Sample size and statistical power genetic association studies. Medical search. Frequent questions

Benchmarking association analyses of continuous exposures with RNA-seq in observational studies. (escholarship.org)
Large datasets of hundreds to thousands of individuals measuring RNA-seq in observational studies are becoming available. (escholarship.org)
Obesity and obesity-related traits have been reported in several epidemiological observational studies to be risk factors for meningioma. (escholarship.org)
Several observational studies have explored the associations between Sjögren's syndrome (SS) and certain cancers. (biomedcentral.com)
Since data on the association of CRP levels with ALS are often derived from observational studies, which could be subject to potential confounding bias and reverse causes, such as chronic diseases, cardiovascular risk factors and so on, it is unclear whether CRP levels are a risk factor for ALS. (frontiersin.org)
Clinicians are well versed in the strengths and limitations of such trials and have an increasingly sophisticated understanding of traditional analyses of observational studies. (bmj.com)
1 6 7 8 It is increasingly being used because it can overcome a major limitation of evidence from observational studies: unmeasured confounding. (bmj.com)
One source of evidence is the association between alcohol and blood pressure in observational studies. (bmj.com)
TT, BT, DHEAS and estradiol increase the risk of ER+ type BCs similar to observational studies. (biomedcentral.com)
Their application in human observational studies (HOS) has become feasible in recent years due to a spectacular increase in the sensitivity, resolution and throughput of OMICS-based assays. (bmj.com)
Doubly-robust estimators of treatment-specific survival distributions in observational studies with stratified sampling. (unc.edu)
The inconsistencies among observational studies may ascribe to many reasons, including different study designs, small case numbers, incomplete adjustment for confounding factors, reverse causation, and failure to measure lifetime use and patterns of alcohol intake [ 11 ]. (biomedcentral.com)

We compare popular software for gene expression-DESeq2, edgeR and limma-as well as linear regression-based analyses for studying the association of continuous exposures with RNA-seq. (escholarship.org)
Heritability estimates using genome-wide genotyping data can be biased if analyses do not appropriately account for the nonuniform distribution of genetic effects across the allele frequency and linkage disequilibrium (LD) spectrum. (escholarship.org)
Our combined dataset reveals 21 further loci and shows, using gene set and tissue-specific analyses, that genes expressed in foetal brain cells and adult prefrontal cortex are enriched for genetic variation affecting lifespan, as are gene pathways involving lipoproteins , lipid homeostasis , vesicle-mediated transport , and synaptic function. (fightaging.org)
In this present study, summary-level data for ALS (20,806 cases and 59,804 controls) was obtained from large analyses of genome-wide association studies. (frontiersin.org)
As all analyses were performed using publicly available genome-wide association study (GWAS) summary data, no additional ethical permission was required from institutional research ethics committees. (frontiersin.org)
An important aim of systematic reviews and meta-analyses is to assess the extent to which different studies give similar or dissimilar results. (bmj.com)
1 Clinical, methodological, and biological heterogeneity are often topic specific, but statistical heterogeneity can be examined with the same methods in all meta-analyses. (bmj.com)
How uncertain is the extent of statistical heterogeneity in meta-analyses? (bmj.com)
It also depends on the number of studies and cannot be compared across different meta-analyses. (bmj.com)
This statistic can be used to compare the amount of inconsistency across different meta-analyses even with different numbers of studies. (bmj.com)
Meta-analysis based on genome-wide association (GWA) analyses with SNPs was followed by gene-based association tests, and the overlap in results with a meta-analysis in the Psychiatric Genomics Consortium (PGC) case-control ADHD study was investigated. (amsterdamumc.org)
Both SNP- and gene-based analyses indicated overlap with the PGC meta-analysis results with the genetic correlation estimated at 0.96. (amsterdamumc.org)
Higher-order branching and clustering of the populations are consistent with the geographic origins of populations and with previously published genetic analyses. (princeton.edu)
In contrast to the common approach of analysing disorders one-by-one using case-control comparisons derived from clinical diagnoses, sometimes followed by exploratory analyses of their possible genetic relationship, in this project empirically-based psychological theories, extant epidemiological evidence, and established genetic risk structures to construct and test phenotypic models that examine shared versus disorder-specific genetic effects for comorbid, genetically-related anxiety spectrum disorders, are being applied. (ukw.de)
At the same time, statistically rigorous approaches that quantitatively assess, minimize, or account for various sources of heterogeneity before, within, and after association analyses are taken into account. (ukw.de)
With regard to the analyses, in this project GWAS, metaanalyses, gene-based tests, as well as polygenic association testing are performed. (ukw.de)
The hereby identified variants conveying (statistically) a risk to the development of anxiety disorders are subsequently analysed with in-silico validation approaches to assess their potential functionality, followed by pathway-based analyses to investigate biological mechanisms of genetic liability that can inform new treatment targets. (ukw.de)
Subtype-specific analyses showed similar associations with ER+ expressing subtypes: luminal A-like BC, luminal B-like BC and luminal B/HER2-negative-like BC. (biomedcentral.com)
Looking for changes in putative adaptations in vertically migrant populations, determining the heritability of putative adaptive traits and genetic association analyses have all been used to evaluate the relative contributions of nurture and nature to the Andean phenotype. (silverchair.com)
Therefore, the causal genes and pathways are still not well known and additional genomic functional analyses are required to elucidate the biological mechanism between genetic variants and the risk of cervical cancer [ 12 , 13 ]. (jcancer.org)
Single polymorphisms as well as haplotypes of the variants were tested for association with TB using statistical analyses. (biomedcentral.com)
The ENV Section of and paral el analyses, as well as for together and conducting a meta-analysis IARC, the Institute for Prevention and col aboration with other consortia of nine separate GWA studies of lung Occupational Medicine (IPA, Germany) and partners. (who.int)
Further analyses identified shared genetic variants found in metabolism of alpha-linolenic pathway for type 2 diabetes. (plos.org)
Additive Cox regression model and nonlinear Mendelian randomization (NLMR) analyses were performed to evaluate the association of alcohol intake with HCC. (biomedcentral.com)
Using large-scale phylogenetic analyses, combined with epidemiological and travel data, we quantify the size, spatio-temporal origins and persistence of genetically-distinct UK transmission lineages. (cdc.gov)
We conducted linear regressions analyses (adjusted for sex, waist circumference, physical activity, hormone use, and season) to assess the relationship between 25-hydroxyvitamin D and biomarkers of dysglycemia, dyslipidemia, and inflammation in the study population. (cdc.gov)
Inadequate vitamin D status has been associated with elevated cardiometabolic disease risk, although results are inconsistent, as evidenced by recent meta-analyses pooling multiple study populations (6-8). (cdc.gov)

Genetic variation has a substantial contribution to chronic obstructive pulmonary disease (COPD) and lung function measurements. (escholarship.org)
Recent studies suggest that variation in complex disorders (e.g., schizophrenia) is explained by a large number of genetic variants with small effect size (Odds Ratio ≈ 1.05-1.1). (escholarship.org)
When it comes to the overall interaction between genes and longevity, many lines of evidence lead the scientific community to believe that the genetic contribution to human variation in aging is smaller than the environmental contribution. (fightaging.org)
With the advancement of pharmacogenomic technologies, genetic variation has been identified to contribute to individual response to antidepressants. (researchsquare.com)
Values of I 2 range from 0% to 100%, and it tells us what proportion of the total variation across studies is beyond chance. (bmj.com)
RESULTS: SNP-based heritability ranged from 5% to 34%, indicating that variation in common genetic variants influences ADHD symptom scores. (amsterdamumc.org)
Understanding the distribution of human genetic variation is an important foundation for research into the genetics of common diseases. (princeton.edu)
Mendelian randomisation uses genetic variation as a natural experiment to investigate the causal relations between potentially modifiable risk factors and health outcomes in observational data. (bmj.com)
Additional evidence stems from genetic studies of rare variation in non-syndromic forms of ASD. (springer.com)
6 The aim of our study was to prove that common genetic variation in the DOT1L gene is important in hip OA at this level of confidence. (bmj.com)
The "skyline" - Manhattan plot graph of genetic variation associated with schizophrenia - has risen dramatically over the past few years, Due to the enhanced ability to detect subtle effects of common gene variants that comes with larger sample sizes. (nih.gov)
While the suspect variation identified so far only explains only about 3.5 percent of the risk for schizophrenia, these results warrant exploring whether using such data to calculate an individual's risk for developing the disorder might someday be useful in screening for preventive interventions," explained Thomas R. Insel, M.D., director of the NIH's National Institute of Mental Health, one funder of the study. (nih.gov)
There was an association confirmed with variation in the gene that codes for a receptor for the brain chemical messenger dopamine, which is known to be the target for antipsychotic medications used to treat schizophrenia. (nih.gov)
The overlap strongly suggests that common and rare variant studies are complementary rather than antagonistic, and that mechanistic studies driven by rare genetic variation will be informative for schizophrenia," say the researchers. (nih.gov)
Among the strongest associations detected, as in in previous genome-wide genetic studies, was for variation in tissues involved in immune system function. (nih.gov)
Here, we test (1) whether these scores contribute to prediction over-and-above family history, (2) the extent to which PGS prediction reflects inherited genetic variation v. demography (population stratification and assortative mating) and indirect genetic effects of parents (genetic nurture), and (3) whether PGS prediction is mediated by behavioral disinhibition prior to substance use onset. (cambridge.org)
The aim of this review was to quantify the global variation in childhood myopia prevalence over time taking account of demographic and study design factors. (bmj.com)
Amino acid substitutions are caused by coding-sequence genetic variation. (jamanetwork.com)

Association mapping has been most widely applied to the study of human disease, specifically in the form of a genome-wide association study (GWAS). (wikipedia.org)
Proven to serve as a powerful tool to identify novel loci for genetic susceptibility factors, genome-wide association studies (GWAS) have already been applied successfully to a wide range of disorders including psychiatric illnesses. (ukw.de)
However, only few GWAS have been conducted focussing on primary anxiety disorders so far, although there is evidence for a genetic component of these disorders. (ukw.de)
Then, we will perform SNPs (Single Nucleotide Polymorphism) association studies with the previously extracted features to identify the SNPs , We will test various genetic model and follow GWAS (genome-wide association study) good practices analysis using genetic tools like PLINK (whole genome association analysis toolset). (ox.ac.uk)
The results of genome-wide association studies (GWAS) can be used to estimate the weights needed for constructing polygenic scores. (aeaweb.org)
Although genome-wide association studies (GWAS) have successfully identified multiple genetic variants associated with cervical cancer, the functional role of those variants is not well understood. (jcancer.org)
To bridge such gap, we integrated the largest cervical cancer GWAS ( N = 9,347) with gene expression measured in six human tissues to perform a multi-tissue transcriptome-wide association study (TWAS). (jcancer.org)
In the past few years several large-scale genome-wide association studies (GWAS) have discovered a lot of single nucleotide polymorphisms (SNPs) associated with the risk of cervical cancer ( Table S1 ) and provide new insight into the genetic architecture of this type of cancer. (jcancer.org)
The consortia that we based our study on (the original GWASs) have GWAS summary statistics available. (plos.org)

The software is designed to facilitate decision making for case-control association studies of candidate genes, fine-mapping studies, and whole-genome scans. (cancer.gov)
The underlying hypothesis was that at least some of the genetic variants related to a common outcome are collocated in segments of chromosomes at a wider scale than single genes. (escholarship.org)
It seems fairly clear from the extensive existing evidence, data that results from many association studies carried out in search of gene variants correlated with longevity, that a large number of genes contribute to life span . (fightaging.org)
Only a very few genes have exhibited a robust correlation with longevity in multiple studies, and their effect sizes are ( with one exception ) quite small. (fightaging.org)
Rather than studying the effects of one or more selected genes on lifespan, they looked across the whole genome to answer the question in a more open-ended way and identify new avenues to explore in future work. (fightaging.org)
Because the effect of any given gene is so small, the large sample size was necessary to identify genes relevant to lifespan with enough statistical power. (fightaging.org)
Using this sample, the researchers validated six previously identified associations between genes and aging, such as the APOE gene, which has been tied to risk of neurodegenerative disease . (fightaging.org)
Using a person's genetic information alone, we can identify the 10 percent of people with the most protective genes, who will live an average of five years longer than the least protected 10 percent. (fightaging.org)
Power and sample size estimation is one of the crucially important steps in planning a genetic association study to achieve the ultimate goal, identifying candidate genes for disease susceptibility, by designing the study in such a way as to maximize the success possibility and minimize the cost. (jpmph.org)
Limited analysis to our knowledge, no published studies have examined of 2 genes important to the innate immune response found the association between specifi c host genetic variants and no association between genetic variants and fatal infl uenza severe infl uenza disease outcomes. (cdc.gov)
Due to the random assignment of genes at conception, genetic variants predate disease development and are not influenced by environmental risk factors. (frontiersin.org)
Therefore, the certain variants in the serotonin-related genes, such as serotonin transporter (5-HTT), 5-HT1A receptor (5-HTR1A), 5-HT2A receptor (5HTR2A) and catechol-O-methyltransferase (COMT) genes, may influence 5-HT neurotransmission, and they are good candidates for the study of PD. (researchsquare.com)
Assuming multiple small effects of different genes are acting in concert to disease susceptibility presupposes the use of large sample sizes which provide sufficient statistical power for a successful identification of these genetic variants. (ukw.de)
While the Human Genome Project (and many other genome projects, for that matter) showed how many genes living things share, they also demonstrated the importance of genetic variants. (bitesizebio.com)
2] Along with the known significance of mutations in the BRCA1 and BRCA2 genes , these variants are an excellent and promising example of the medical importance of genetic variations and their role in cancer diagnosis , among other therapeutic applications. (bitesizebio.com)
Sample sizes in these studies were individually too small to detect many of the subtle effects on risk exerted by such widely shared versions of genes. (nih.gov)
Yet evidence from the study supports the view that most variants associated with schizophrenia appear to exert their effects via the turning on and off of genes rather than through coding for proteins. (nih.gov)
Overall, our study identified multiple candidate genes, especially four non-MHC genes, which may be causally associated with the risk of cervical cancer. (jcancer.org)
Pinpointing the genes most responsible for asthma has proven to be a daunting task with too many genetic possibilities to sift through. (rdworldonline.com)
Modern researchers have postulated associations between asthma and more than 400 genes, but to discover the ailment's foundations they must identify both the causative genes and the specific mutations within them that point to the disease. (rdworldonline.com)
The researchers originally identified 251 genes that they then attempted to replicate through a genetic analysis of an independent population. (rdworldonline.com)
I will look for these genes by studying the whole genome of a large adult population. (rdworldonline.com)
Fifty-four polymorphisms in eight candidate genes were genotyped in over 800 tuberculosis cases and healthy controls in a population-based case-control association study in a South African population. (biomedcentral.com)
We applied novel statistical tools for polygenic architectures to investigate if there are common genes for depression, coronary artery disease and cardiovascular risk factors (body mass index, blood pressure, lipids, type 2 diabetes and c-reactive protein). (plos.org)

We employ a resampling approach that allows for assessment of false positive detection across methods, power comparison and the computation of quantile empirical P-values. (escholarship.org)
Several standard methods to test for association. (wikipedia.org)
Methods: 233 patients with PD and 231 healthy controls were enrolled in the study. (researchsquare.com)
Some of the alleles that modify common disease risk are themselves likely to be common and, thus, amenable to identification using gene-association methods. (princeton.edu)
Such type I errors can be eliminated by using either family-based association tests or methods that sufficiently adjust for population stratification. (princeton.edu)
These methods require the availability of genetic markers that can detect and, thus, control for sources of genetic stratification among populations. (princeton.edu)
Although numerous guides exist for conducting 1 2 3 and reporting Mendelian randomisation studies and related methods, 4 5 here we focus on helping clinicians and practitioners read and interpret them. (bmj.com)
Many epidemiological methods attempt to correct for, or minimise, observed differences in confounders between study participants. (bmj.com)
These methods can give useful evidence about causal relations if we measure enough confounders so that, after adjustment or matching, study participants who consume different amounts of alcohol are otherwise comparable. (bmj.com)
Instrumental variables regression methods can correct for such bias under a set of assumptions, mostly notably the exclusion restriction, but the practical value of these strategies depends upon the strength of the instruments and the size of the sample used to carry out the estimation. (aeaweb.org)
Sample size considerations of prediction-validation methods in high-dimensional data for survival outcomes. (unc.edu)
In this review, we discuss considerations of the study design for each data feature, the limitations in gene and protein abundance and their rate of expression, the current data integration methods, and microbiome influences on gene and protein expression. (rsc.org)
Increasingly, logistic regression methods for genetic association studies of binary phenotypes must be able to accommodate data sparsity, which arises from unbalanced case-control ratios and/or rare genetic variants. (karger.com)
We evaluated the statistical properties of our proposed two-step method and compared its performance to other shrinkage methods by a simulation study. (karger.com)
We used the statistical methods the bivariate causal mixture model (MiXeR) and the conditional/conjunctional false discovery rate (pleioFDR) to quantify genome-wide overlap and to identify shared genetic variants. (plos.org)
Since 1990, many improvements have occurred in data resources, investigative techniques, and analytic/statistical methods, and much has been learned from both large- and small-scale cancer cluster investigations. (cdc.gov)

0.99), suggesting that previously reported associations may be the result of more complex epistatic interactions, genetic heterogeneity, or false-positive associations because of limited sample sizes. (nih.gov)
Therefore, the perception of statistical heterogeneity or homogeneity often influences meta-analysts and clinicians in important decisions. (bmj.com)
Many statistical tests are available for evaluating heterogeneity between studies. (bmj.com)
4 Cochran's Q usually has only low power to detect heterogeneity, however. (bmj.com)
9 The authors decided to exclude the two studies that were most different, saying that their removal eliminated all of the across study heterogeneity (Q=5.59, P=0.588, I 2 =0.00). (bmj.com)
We start with the canonical theory for health due to Grossman (1972) and add genetic heterogeneity in preferences and health production, and potentially addictive behavior. (aeaweb.org)
Sample size estimation in educational intervention trials with subgroup heterogeneity in only one arm. (unc.edu)
Recent multi-omics studies have revealed the heterogeneity and complexity of tumor features such as their genetic mutations, transcriptome, proteins, and signaling pathways. (rsc.org)

We performed an analysis of genetic variants associated with obesity-related traits to assess the relationship with meningioma risk using Mendelian randomization (MR), an approach unaffected by biases from temporal variability and reverse causation that might have affected earlier investigations. (escholarship.org)
Prior to the new study, schizophrenia genome-wide studies had identified only about 30 common gene variants associated with the disorder. (nih.gov)
The study found a notable overlap between protein-related functions of some linked common variants and rare variants associated with schizophrenia in other studies. (nih.gov)

Asthma is what we in the field of genetic epidemiology classify as a complex trait," DeWan said. (rdworldonline.com)
As epidemiological studies and consortia epidemiology focuses on identifying risk coordinated by the Agency. (who.int)
accordingly, its epidemiology has been well studied in the United States and internationally. (medscape.com)
The field of infectious disease genetic epidemiology has long described the unique and complex implications that a requirement of exposure to the infectious agent imposes on study design. (cdc.gov)

This data is now beginning to show up in epidemiological studies that tackle questions of health, choice, aging, and longevity. (fightaging.org)
The study here reinforces that consensus, producing a model that predicts the difference in life expectancy for the best and worst human genomes to be somewhat less than the difference between a good lifestyle and a bad lifestyle established in other epidemiological studies. (fightaging.org)
4 Clinical Trial Service Unit and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health, University of Oxford, Richard Doll Building, Old Road Campus, Roosevelt Drive, Oxford OX3 7LF, UK. (bmj.com)
Observational epidemiological studies suggest a positive association between testosterone, estradiol, dehydroepiandrosterone sulphate (DHEAS) and other sex steroid hormones with postmenopausal BC. (biomedcentral.com)
One area where the Agency's contribution The remainder of this section describes has been particularly significant is the some of the current examples of coordination of large, international, multicentre, international, collaborative multicentre epidemiological studies. (who.int)

A next step is to combine data from population-based and case-control cohorts in genetic association studies to increase sample size and to improve statistical power for identifying genetic variants. (amsterdamumc.org)
Identifying genetic variants can be difficult, but studying them is important as they can play a role in evolution, disease, and drug metabolism. (bitesizebio.com)

In genetics, association mapping, also known as "linkage disequilibrium mapping", is a method of mapping quantitative trait loci (QTLs) that takes advantage of historic linkage disequilibrium to link phenotypes (observable characteristics) to genotypes (the genetic constitution of organisms), uncovering genetic associations. (wikipedia.org)
Association mapping seeks to identify specific functional genetic variants (loci, alleles) linked to phenotypic differences in a trait to facilitate detection of trait causing DNA sequence polymorphisms and selection of genotypes that closely resemble the phenotype. (wikipedia.org)
300-400 dogs) so that contributing genetic loci can reliably be discovered. (pwdfoundation.org)
Approximately 70% of the genetic risk associated with breast cancer is still unaccounted for and it is predicted that the remainder of susceptibility loci will include common, low-effect variants that most likely have regulatory effects. (springer.com)
We used the bivariate causal mixture model (MiXeR) to quantify genome-wide polygenic overlap and the conditional/conjunctional false discovery rate (pleioFDR) method to identify shared loci, based on genome-wide association study summary statistics on depression (n = 450,619), coronary artery disease (n = 502,713) and nine cardiovascular risk factors (n = 204,402-776,078). (plos.org)
Genetic loci were functionally annotated using FUnctional Mapping and Annotation (FUMA). (plos.org)

Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data. (escholarship.org)
The data gained by ANX hence is used to test the hypotheses that anxiety disorders share molecular genetic risk variants with other anxiety spectrum phenotypes. (ukw.de)
Thus, they are pertinent phenotypes to perform variant and gene association studies. (ox.ac.uk)
This would provide us with better statistical power to characterize the largest possible number of SNPs associated with these cortical structures considered as phenotypes. (ox.ac.uk)
The genetic relationship between depression and these cardiovascular phenotypes is not known. (plos.org)

We considered 11 obesity-related traits, identified genetic instruments for these factors, and assessed their association with meningioma risk using data from a genome-wide association study comprising 1,606 meningioma patients and 9,823 controls. (escholarship.org)
To evaluate the causal relationship between the obesity-related traits and meningioma risk, we consider the estimated odds ratio (OR) of meningioma for each genetic instrument. (escholarship.org)
Association mapping is based on the idea that traits that have entered a population only recently will still be linked to the surrounding genetic sequence of the original evolutionary ancestor, or in other words, will more often be found within a given haplotype, than outside of it. (wikipedia.org)
The advantage of association mapping is that it can map quantitative traits with high resolution in a way that is statistically very powerful. (wikipedia.org)
Polygenic scores, which are constructed as indexes of genetic variants, are variables that can be used as genetic predictors of traits of interest. (aeaweb.org)
Infection with the tuberculosis (TB) agent Mycobacterium tuberculosis ( M. tuberculosis ) and its subsequent outcomes (active TB, latent infection or clearance of the bacterium by the pulmonary immune system) are complex traits due to interactions between numerous host genetic susceptibility factors and the environment. (biomedcentral.com)

We then performed a permutation-based binomial test to determine whether this region contained significantly more nominally significant SNPs than expected under the null hypothesis of no association, taking linkage into account. (escholarship.org)
Using this approach we identified a region at chromosome 5q23.3-q31.3 (128-160 Mbp) that was significantly enriched with nominally associated SNPs in three independent case-control samples. (escholarship.org)
It is most often performed by scanning the entire genome for significant associations between a panel of single nucleotide polymorphisms (SNPs) (which, in many cases are spotted onto glass slides to create "SNP chips") and a particular phenotype. (wikipedia.org)
Association mapping, however, also requires extensive knowledge of SNPs within the genome of the organism of interest, and is therefore difficult to perform in species that have not been well studied or do not have well-annotated genomes. (wikipedia.org)
A genome-wide association study is performed by scanning an entire genome for SNPs associated with a particular trait of interest, or in the case of human disease, with a particular disease of interest. (wikipedia.org)
To date, thousands of genome wide associations studies have been performed on the human genome in an attempt to identify SNPs associated with a wide variety of complex human diseases (e.g. cancer, Alzheimer's disease, and obesity). (wikipedia.org)
For instrumental variables, 37 single nucleotide polymorphisms that had been previously identified to be related to CRP levels were used, including 4 SNPs of conservative CRP genetic variants and 33 SNPs of liberal CRP genetic variants. (frontiersin.org)
In this study, single nucleotide polymorphisms (SNPs) related to CRP levels were used as instrumental variables. (frontiersin.org)
These studies are of particular studies aim to identify relevant genetic importance as the knowledge of the susceptibility variants by genotyping up etiology of cancers more prevalent in to 1 000 000 genetic variants (or SNPs). (who.int)

The falling cost of gene sequencing allows for genetic data to be incorporated into studies of ever larger populations. (fightaging.org)
Another variant of association mapping in related populations is family based association mapping. (wikipedia.org)
The family-based association mapping can be used in situations where the mutant alleles have been introgressed in populations. (wikipedia.org)
Using three US resident populations (European-American, African-American and Puerto Rican), we demonstrate how such studies can proceed, quantifying proportional ancestry levels and detecting significant admixture structure in each of these populations. (princeton.edu)
However, further investigations with larger sample size are warranted to validate our findings in diverse populations. (jcancer.org)
We're trying to understand which inherited genetic variants are contributing to an individual's risk of developing asthma by looking in large populations, and these big data sets will give us the statistical power to find what is really a needle in a haystack. (rdworldonline.com)
Multilevel binomial logistic regression of log odds of myopia was used to examine the association with age, gender, urban versus rural setting and survey year, among populations of different ethnic origins, adjusting for study design factors. (bmj.com)
2 , 13-15 In contrast, studies from Asian populations suggest rapid increases in the prevalence of childhood myopia (in terms of prevalence and absolute levels of myopia), affecting 80-90% of school-leavers in East Asia. (bmj.com)
In addition, While GWA studies do not require prior they provide the opportunity to study knowledge of the functional significance the consistency of effects in different of the variants studied, they do require populations, and to test the applicability very large sample sizes, typical y of approaches for prevention in different thousands of cancer cases and controls. (who.int)
However, those in high-risk populations of HCC, such as men and older people, and those with abnormal ALT levels and carry genetic risk variants, should abstain from drinking alcohol. (biomedcentral.com)

The statistical power to detect these genetic variants in Genome Wide Association (GWA) studies with large numbers of cases and controls (v 15,000) is still low. (escholarship.org)
However, by using a significantly larger data set from the Alzheimer's Disease Genetics Consortium, we fail to detect an association between TF rs1049296 or HFE rs1800562 with AD risk (TF rs1049296 p = 0.38 and HFE rs1800562 p = 0.40). (nih.gov)
A problem with this approach is that the large sample sizes required for sufficient statistical power to detect alleles with moderate effect make gene-association studies susceptible to false-positive findings as the result of population stratification. (princeton.edu)
These data provide a valuable resource for the definition of marker panels to detect and control for population stratification in population-based gene identification studies. (princeton.edu)
To detect the small effects of these genetic variants on asthma, we need much larger sample sizes and we're now getting to that point," DeWan said. (rdworldonline.com)
Chorionic villus sampling (CVS) and amniocentesis are prenatal diagnostic procedures that are performed to detect fetal abnormalities. (cdc.gov)
Borderline tumors, as with other ovarian tumors, are difficult to detect clinically until they are advanced in size or stage. (medscape.com)

We leveraged the COVID-19 Host Genetics Initiative 6 , 7 to perform a genome-wide association study for Long COVID including up to 6,450 Long COVID cases and 1,093,995 population controls from 24 studies across 16 countries. (medrxiv.org)
Perhaps one of the most significant discoveries in modern genetics, after the human genome was sequenced, is the role of genetic variations in evolution, disease, and the creation of plants and animals. (bitesizebio.com)

They used their results to develop a polygenic risk score for lifespan: a single, personalized genomic score that estimates a person's genetic likelihood of a longer life. (fightaging.org)
Living long and healthy lives is of great interest to us all, yet investigation into the genomic basis of lifespan has been hampered by limited sample sizes, both in terms of gene discovery and identification of longevity pathways. (fightaging.org)
A study of host genomic factors related to infected by the same strain remain asymptomatic or become severe infl uenza outcomes in children was recommended only mildly ill. (cdc.gov)
Reports from in-life sampling of blood or saliva have also been very limited in sample size and/or genomic coverage. (springer.com)
The largest genomic dragnet of any psychiatric disorder to date has unmasked 108 chromosomal sites harboring inherited variations in the genetic code linked to schizophrenia , 83 of which had not been previously reported. (nih.gov)
Statistical power in COVID-19 case-control host genomic study design. (cdc.gov)

The samples of choice for association studies are usually blood and saliva, however, relatively little is known about how DAE compares in multiple human tissues and it is questionable whether studying DAE in blood would be a proper surrogate for what happens in the disease target tissue. (springer.com)
This systematic review shows that saliva sampling seems to be a similarly sensitive and less costly alternative that could replace nasopharyngeal swabs for collection of clinical samples for SARS-CoV-2 testing. (cdc.gov)

We conducted the two-sample Mendelian randomization with the public genome-wide association studies (GWASs) summary statistics in European population to evaluate the causality between SS and nine types of cancers. (biomedcentral.com)
Here, we performed a two-sample Mendelian randomization to further understand the causal effects of C-reactive protein levels on the risk of ALS. (frontiersin.org)
As with all epidemiological approaches, findings from Mendelian randomisation studies depend on specific assumptions. (bmj.com)
Mendelian randomisation is an analytical method that uses genetic variants as instrumental variables for modifiable risk factors that affect population health. (bmj.com)
We used a two-sample Mendelian randomization analysis to investigate this association. (biomedcentral.com)

ABSTRACT This case-control study investigated risk factors for cerebral palsy in a Palestinian population. (who.int)

Our findings support the use of differential allelic expression in blood as a surrogate for breast tissue in future studies on predisposition to breast cancer. (springer.com)

OBJECTIVE: The aims of this study were to elucidate the influence of common genetic variants on childhood attention-deficit/hyperactivity disorder (ADHD) symptoms, to identify genetic variants that explain its high heritability, and to investigate the genetic overlap of ADHD symptom scores with ADHD diagnosis. (amsterdamumc.org)
IL-10 gene polymorphisms have been investigated for their potential roles in hepatocellular carcinoma This study aimed to investigate the relationship between polymorphisms of IL-10 (-1082 A/G, -819 T/C, -592 A/C), and hepatocellular carcinoma by performing a meta-analysis with eligible individual studies. (biomedcentral.com)
To illustrate the current status of the application of OMICS in OEH research, we will provide examples of studies that used OMICS technologies to investigate human health effects of two well-known toxicants, benzene and arsenic. (bmj.com)
The White House asked the Department of Health and Human Services to investigate the issues raised by the study. (cdc.gov)
Many state, local, and tribal health departments have used the 1990 Guidelines as a basis for developing and implementing protocols to investigate suspected cancer clusters, employing the four-step approach (initial response, assessment, major feasibility study, and etiologic investigation) identified in the 1990 Guidelines. (cdc.gov)
To investigate if an association exists between diet and oral squamous cell carcinoma (OSCC) in a Brazilian population. (bvsalud.org)

Genome Wide Association data of three independent schizophrenia case/control cohorts with European ancestry (Dutch, German, and US) using segments of DNA with variable length (2 to 32 Mbp) was analyzed. (escholarship.org)
In the largest ever genome-wide association study of lifespan to date, they paired genetic data from more than 500,000 participants in the UK Biobank and other cohorts with data on the lifespan of each participant's parents. (fightaging.org)
We identified the first genome-wide significant association for Long COVID at the FOXP4 locus. (medrxiv.org)
To compute these estimate we used separately a pedigree study with SOLAR (Sequential Oligogenic Linkage Analysis Routines) and an independent population with the genetic information using GCTA (Genome-wide Complex Trait Analysis). (ox.ac.uk)
Genetic association data for rs12982744 and hip OA were derived from the Translational Research in Europe Applied Technologies for OsteoArthritis (TREAT-OA) consortium and combined with data from the UK (arcOGEN consortium), Estonia (Estonian Genome Center of the University of Tartu) and other studies (Nottingham, GOAL). (bmj.com)
1 The idea that the field of molecular biology needed to move from studying isolated biological molecules towards a broad analysis of large sets of biological molecules was underscored with the completion of the human genome project (HGP) in 2001. (bmj.com)
In this review we define the field of occupational and environmental health (OEH) research as the study of interactions between the following domains: environment (the exposome), 4 individual (genetic) susceptibility (the (epi)genome), and biological outcomes (the responsome) 5 ( figure 1 ). (bmj.com)
Recent well-powered genome-wide association studies have enhanced prediction of substance use outcomes via polygenic scores (PGSs). (cambridge.org)

We review two mathematical frameworks most commonly used to compute power in genetic association studies prior to the main study: Monte-Carlo and non-central chi-square estimates. (jpmph.org)
The individual study estimates and sample sizes are shown in figure 1 . (bmj.com)
However, most within-pair PGS prediction estimates were substantially smaller than the corresponding between-pair estimates, suggesting that prediction is driven in part by demography and indirect genetic effects of parents. (cambridge.org)
Here, we draw on current estimates of exposure, infectivity, and test accuracy of COVID-19 to demonstrate the feasibility of detecting host genetic factors associated with COVID-19 susceptibility and severity with current study designs. (cdc.gov)

As the disease has several genetic risk elements and is influenced by environmental factors like diet and exercise, it is of paramount importance that genetic association studies are conducted using adequately-sized cohorts of genotyped diseased and healthy animals. (pwdfoundation.org)

SS had significant causal relationships with lymphomas, prostate cancer, and endometrial cancer, and suggestive evidence of association was found in liver and bile duct cancer and cancer of urinary tract, indicating that SS may play a vital role in the incidence of these malignancies. (biomedcentral.com)
This study suggests that genetically predicted CRP levels may not be a causal risk factor for ALS. (frontiersin.org)
This association may be a poor indicator of the causal effects of alcohol if there are other factors-"confounders"-that influence both alcohol intake and blood pressure. (bmj.com)

In the last decade, many association studies have identified genetic markers that are associated with AD status. (nih.gov)
This study provides a step toward precision therapeutics for PTSD by demonstrating that comorbid MDD and genetic markers may help guide treatment selection. (nature.com)
In recent years, polygenic scores have become the favored tool for summarizing the influence of genetic predispositions on phenotypic characteristics and behavior when the genetic effect arises from the accumulation of small effects from a potentially very large number of genetic markers. (aeaweb.org)
it biases downward the estimated effect of genetic markers on the outcome of interest, and it biases the effect of behavioral and environmental variables that are entered into the same specification as the genetic variables. (aeaweb.org)
Genetic markers could also help identify which individuals will respond, or not respond, to certain drugs and treatments, opening the way to effective targeted therapies. (rdworldonline.com)
Associations between gut microbiota composition, levels of cytokines and inflammatory markers in patients with COVID-19 suggest that the gut microbiome is involved in the magnitude of COVID-19 severity possibly via modulating host immune responses. (cdc.gov)

Epigenome-wide association studies (EWAS) in autism spectrum disorder (ASD) may shed light on particular biological mechanisms. (springer.com)
The search has been compared to finding a needle in a stack of needles because of the comparative rarity of genetic variations and the copious amount of genetic code that needs to be studied to confirm they exist and assess their biological significance. (bitesizebio.com)
OMICS technologies are relatively new biomarker discovery tools that can be applied to study large sets of biological molecules. (bmj.com)
In the biological sciences the suffix -omics is used to refer to the study of large sets of biological molecules. (bmj.com)
Three data points (representing 3 independent biological replicates) were plotted for all tested CYP39A1 genetic variants. (jamanetwork.com)
With the advancement of next-generation sequencing and mass spectrometry, there is a growing need for the ability to merge biological features in order to study a system as a whole. (rsc.org)

Moreover, additional analysis was used to assess the associations between SS and well-accepted risk factors of cancers. (biomedcentral.com)
Woofle, in 1955, proposed a relative risk statistic that could be used to assess genotype dependent risk. (wikipedia.org)
We aimed to perform a more extensive evaluation of differential allelic expression between blood and breast in order to assess the potential usefulness of LCL and fresh blood in association studies, to identify regulatory polymorphisms related to susceptibility to breast cancer. (springer.com)
The primary objectives of the consortium the power to correctly assess the joint development of SYNJEM - a country, are to: further elucidate genetic effect of multiple risk factors. (who.int)
This is the first study to fully assess case exposure with findings suggesting that sporadic cases of BFV in people living further away from the coast do not reflect alternative exposure sites but are likely to result from travel to coastal regions. (who.int)

PGA is a package of algorithms and graphical user interfaces developed in Matlab for power and sample size calculation under various genetic models and statistical constraints. (cancer.gov)
September 9th 2008 - PGA1 was updated to fix a bug that caused a bias in the power calculation for a co-dominant (1df) model. (cancer.gov)
Sample size calculation for cluster randomization trials with a time-to-event endpoint. (unc.edu)
Sample size/power calculation for stratified case-cohort design. (unc.edu)
Sample size calculation for studies with grouped survival data. (unc.edu)
Subgroup detection and sample size calculation with proportional hazards regression for survival data. (unc.edu)

Many popular software packages for analysis of RNA-seq data were constructed to study differences in expression signatures in an experimental design with well-defined conditions (exposures). (escholarship.org)
As it will be difficult to further increase sample size, we decided to explore an alternative method for analyzing GWA data in a study of schizophrenia, dramatically reducing the number of statistical tests. (escholarship.org)
The statistical power of our study will be increased if we can include all the subjects with structural images and genetic data available in UK Biobank (currently around ~10000 subjects). (ox.ac.uk)
We present the largest case-control EWAS for ASD to date, combining data from population-based case-control and case-sibling pair studies. (springer.com)
DNA from 968 blood samples from children in the Study to Explore Early Development (SEED 1) was used to generate epigenome-wide array DNA methylation (DNAm) data at 485,512 CpG sites for 453 cases and 515 controls, using the Illumina 450K Beadchip. (springer.com)
We also tested for enrichment of ASD EWAS CpGs for being targets of meQTL associations using available SNP genotype data in the SEED sample. (springer.com)
Discovery-oriented EWAS for ASD using blood samples will likely need even larger samples and unified genetic data to further understand DNAm differences in ASD. (springer.com)
A large-scale meta-analysis combining case-control data from 58 studies found that HRT use was associated with an increased risk of BC within 4 years of current use, with the increasing risk associated with a longer duration of current use [ 6 ]. (biomedcentral.com)
By combining data from all available schizophrenia genetic samples, researchers supported by the National Institutes of Health powered the search for clues to the molecular basis of the disorder to a new level. (nih.gov)
The PGC investigators sought to maximize statistical power by re-analyzing not just published results, but all available raw data, published and unpublished. (nih.gov)
A comparison of the combined study data with findings in an independent sample of cases and controls suggest that considerably more such associations of this type are likely to be uncovered with larger sample sizes, say the researchers. (nih.gov)
The researchers used a combination of high-speed sequencing with the growing quantity and availability of genetic data. (rdworldonline.com)
Participants in the population-based New Hampshire Skin Cancer Study provided detailed risk factor data, and subsequent cancers were identified via linkage with the state cancer registry. (cdc.gov)
The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. (cdc.gov)
Using pilot data to size a two-arm randomized trial to find a nearly optimal personalized treatment strategy. (unc.edu)
Hypothesis testing at the extremes: fast and robust association for high-throughput data. (unc.edu)
Sample size determination in shared frailty models for multivariate time-to-event data. (unc.edu)
Sample size and power determination in joint modeling of longitudinal and survival data. (unc.edu)
The height of the data marker is proportional to the size of the sample. (jamanetwork.com)
Each method specifically integrates a subset of omics data using approaches such as conceptual integration, statistical integration, model-based integration, networks, and pathway data integration. (rsc.org)
This study used case follow-up of cases from the surveillance system to demonstrate that routinely collected BFV notification data were an unreliable indicator of the true location of exposure. (who.int)
It contains descriptions and evaluations of toxicological studies and epidemiological investigations and provides conclusions, where possible, on the relevance of toxicity and toxicokinetic data to public health. (cdc.gov)

This study sought to overcome methodological problems (e.g., sampling frame, lack of blinding) in the earlier pilot study. (cdc.gov)

Even though the explanatory power of polygenic scores continues to improve due to the combination of improved statistical techniques and larger sample sizes for genetic discovery, polygenic scores typically capture less variance than implied by the heritability of a trait. (aeaweb.org)

Genetic variants are differences in DNA sequence between individuals in a population. (bitesizebio.com)
These inconsistencies may result partly from differences in sample size, dosage, geographic location, and disease progression across studies. (cdc.gov)

Clinical studies also demonstrated that selective serotonin-reuptake inhibitors (SSRIs) increasing the synaptic availability of 5-HT and are effective in the treatment of PD[7]. (researchsquare.com)
In this study, we performed IgH HTS on the diagnostic bone marrow of 105 children treated between 2004 and 2008 in Belgium for BCP-ALL in the European Organization for Research and Treatment of Cancer (EORTC)-58951 clinical trial. (frontiersin.org)
Even so, convincing evidence for its importance in the control of mycobacterial infections has been found in both experimental and clinical studies. (biomedcentral.com)
The diagnosis of Steinert disease, firstly Inhibitors,research,lifescience,medical based on family history and clinical evaluation, had been subsequently confirmed by genetic test in all patients, to evaluate the CTG triplet expansion. (plcsignaling.com)
Epidemiological and clinical studies have found associations between depression and cardiovascular disease risk factors, and coronary artery disease patients with depression have worse prognosis. (plos.org)

TSA plots indicated that the information size for firm evidence of effect was sufficient only for the analysis of IL-10 (-592 A/C), but not for the − 1082 A/G or -819 T/C. (biomedcentral.com)
IL-10 (-592 A/C) polymorphism was not associated with hepatocellular carcinoma albeit with sufficient information size. (biomedcentral.com)

c Polymorphism Phenotyping version 2 (Polyphen-2) is a widely used computer algorithm to identify genetic variants that damage protein function. (jamanetwork.com)

Background: A number of studies have shown that genetic factor plays an important role in etiology of panic disorder (PD). (researchsquare.com)
The etiology of this disease remains unclear because of the small number of cases and the lack of randomized, controlled studies. (medscape.com)
Similar to other tumors, the risk factors for the development of meningiomas can be divided into those with clearly defined genetic etiology and those that are attributed to environmental and other nongenetic factors. (medscape.com)

This study used openly available software and code, specifically LD-score regression [ https://github.com/bulik/ldsc/ ] (if we report genetic correlation), MiXer ( https://github.com/precimed/mixer ) and conjunctional FDR [ https://github.com/precimed/pleiofdr/ ]. (plos.org)
To fill these gaps, in the current study, we dissected the correlation between alcohol consumption and the risk of HCC among 329 thousand UK Biobank participants with the full considerations of potential limitations. (biomedcentral.com)

Cervical cancer has multiple complex etiologies and is caused by the combination of genetic risk factors and various external environmental exposures. (jcancer.org)

In particular, population stratification can produce false positive associations. (wikipedia.org)
Population based association mapping has been modified to control population stratification or relatedness in nested association mapping. (wikipedia.org)

This research group expects that with such a strongly powered study all major genetic risk factors can be uncovered with a high statistical significance. (pwdfoundation.org)
No single CpG site showed a large enough DNAm difference between cases and controls to achieve epigenome-wide significance in this sample size. (springer.com)
Among the seven sites achieving suggestive statistical significance, we observed consistent, and stronger, effects at the same sites among brain samples. (springer.com)

Case control studies - Case control studies was among the first approaches utilized to determine whether particular genetic variant is associated with increased risk of disease in humans. (wikipedia.org)
A complex trait is influenced by multiple genetic and environmental factors and, in humans, it is inherently very difficult to determine what proportion of the trait is dictated by an individual's genetic heritage and what proportion develops in response to the environment in which the person is born and raised. (silverchair.com)
As the evidence for a genetic contribution to high-altitude adaptation in humans has been the subject of several recent reviews, this article instead focuses on the methodology that has been employed to isolate the effects of 'nature' from those of 'nurture' on the acquisition of the high-altitude phenotype in Andean natives (Quechua and Aymara). (silverchair.com)

In preliminary works, we have estimated the heritability of these cortical structures by studying a variety of features such as the depth of sulci. (ox.ac.uk)

Statistical powers are computed by these two approaches for case-control genotypic tests under one-stage direct association study design. (jpmph.org)

We provide the proposed pipeline with fast algorithms in an R package Olivia, and implemented it to study the associations of measures of sleep disordered breathing with RNA-seq in peripheral blood mononuclear cells in participants from the Multi-Ethnic Study of Atherosclerosis. (escholarship.org)
Based on weighted contributions from relevant genetic variants, this score allowed the researchers to predict which participants were likely to live longest. (fightaging.org)
PGSs for alcohol, cannabis, and nicotine use/use disorder were calculated for Minnesota Twin Family Study participants ( N = 2483, 1565 monozygotic/918 dizygotic). (cambridge.org)
Forest plot describing the association between the burden of damaging CYP39A1 allelic variants and exfoliation syndrome among 20 441 participants from 14 countries. (jamanetwork.com)
Further information on selection of the study participants based on self-reported ancestry appears in the eAppendix in Supplement 1 . (jamanetwork.com)
[ 4 ] A multinational study in high-, middle-, and low-income countries showed that 46.5% of participants with hypertension were aware of their diagnosis, with BP control in only 32.5% of those being treated. (medscape.com)
Participants included geneticists, obstetricians, pediatricians, epidemiologists, teratologists, dysmorphologists, and genetic counselors who had a particular interest in CVS studies or who represented professional organizations and government agencies. (cdc.gov)

Several studies have evaluated the role of CRP as a prognostic marker in ALS and the relationship between CRP and disease progression/survival rate. (frontiersin.org)
Among the genetic factors, Interleukin-10 (IL-10) is one of the anti-inflammatory cytokines [ 14 ] as well as a multifunctional cytokine, which can inhibit development of tumour and disease progression. (biomedcentral.com)

We detail the rational for the subject sample size in the ?expected value of any results? (ox.ac.uk)
However, our results suggest the potential to observe disease associations from blood-based samples. (springer.com)
Results of published studies of the association between the factor V Leiden mutation and ischemic stroke. (jamanetwork.com)
Results of published studies of the association between the methylenetetrahydrofolate reductase C677T polymorphism and ischemic stroke. (jamanetwork.com)
That's one reason genetic epidemiologists require that results be replicated," he said. (rdworldonline.com)
Results highlight indirect sources of genetic associations and preadolescent elevations in behavioral disinhibition as two routes through which these scores may relate to substance use. (cambridge.org)
As part of an NCI-led initiative to fol ow- chromosomes 5 and 15 up on results from GWA studies of cancer, the TRICL consortium was established and started work in 2010. (who.int)
Our results showed polygenic overlap between depression, coronary artery disease and several cardiovascular risk factors and suggest molecular mechanisms underlying the association between depression and increased cardiovascular disease risk. (plos.org)
A public meeting was convened on March 11, 1994, to discuss the results of studies of CVS-associated limb deficiencies and preliminary counseling recommendations that had been drafted at CDC (3). (cdc.gov)

0.0031 was considered significant, and P value between 0.0031 and 0.05 was considered to be suggestive of an association. (biomedcentral.com)
Suggestive associations were found in liver and bile duct cancer (OR = 0.9999, 95% CI: 0.9997-1.0000, P = 0.0291) and cancer of urinary tract (OR = 0.9996, 95% CI: 0.9992-1.0000, P = 0.0281). (biomedcentral.com)

We conducted a hypothesis-generating pilot study associated deaths among previously healthy persons remain to examine if host genetic variants were associated with largely unknown ( 1 ). (cdc.gov)
The aim of the present study was to examine the association of serotonin-related gene polymorphisms with PD risk. (researchsquare.com)
The aim of this study was to examine the individual risk factors associated with the development of subsequent cancers after non melanoma skin cancer. (cdc.gov)
The objectives of this study were to examine the association between vitamin D and traditional and novel biomarkers of cardiometabolic disease and to describe the extent of the month-to-month fluctuations of vitamin D in the Canadian population. (cdc.gov)

Finally, there is direct evidence from case-control postmortem brain studies supporting epigenetic involvement in ASD. (springer.com)
Fifteen case-control studies (n = 8182) were identified. (biomedcentral.com)
Future well-designed large case-control studies on IL-10 (-1082 A/G and − 819 T/C) with different ethnicities are recommended. (biomedcentral.com)
In a hospital-based, retrospective, case-control study in 20112012, adult cases of lymphoproliferative disorders (n = 130) were recruited from outpatient clinics in Menoufia, Egypt, while controls (n = 130) were age- and sex-matched fracture patients. (who.int)
An inverse relationship between the risk of developing oral and pharyngeal cancer and the consumption of fruit and vegetables has been observed in various case-control studies [8-10]. (bvsalud.org)

This study followed the PRISMA 2020 Checklist. (biomedcentral.com)

While knowledge of possible epigenetic underpinnings of the association between exposure to trauma and risk of PTSD has been discussed in several reviews, it remains to be established whether trauma-induced epigenetic modifications can be passed from traumatized individuals to subsequent generations of offspring. (mdpi.com)

In January 2001, a pilot study comparing the echocardiograms of residents of Vieques and Ponce, Puerto Rico reported substantial valvular abnormalities and pericardial thickening in a large proportion of Vieques residents - findings not seen among Ponce residents. (cdc.gov)
Explanatory variables (eg, age, education, race) and dynamic associations between conditions (higher odds for each when 1 of the other conditions were present) for chronic disease in men with MS were similar to findings in the general population literature for select conditions. (cdc.gov)

This will in turn help to better identify and understand the potential genetic patterns underlying diseases for which the particular shapes of cortical structures have been shown to be a biomarker, such as polymicrogyria, schizophrenia or autism. (ox.ac.uk)
The use of Bayesian hierarchical models for adaptive randomization in biomarker-driven phase II studies. (unc.edu)

A recent large whether these polymorphisms were associated with sudden family study that used genealogic databases found an death and bacterial co-infection among persons with fatal elevated risk for infl uenza death among relatives of persons infl uenza. (cdc.gov)
The SLC6A4(rs140701, rs3813034, 5-HTTLPR and STin2), 5-HTR1A rs6295, 5-HTR2A rs6313 and COMT rs4680 gene polymorphisms were genotyped and assessed for the potential association. (researchsquare.com)
A few studies have investigated the association between the 5-HTT linked polymorphic region (5-HTTLPR), 5-HTR1A rs6295, 5-HTR2A rs6313, COMT rs4680 polymorphisms and PD[8-16]. (researchsquare.com)
It is important to note that previous studies have been conducted in different ethnic groups, few of them have examined the relationship between these gene polymorphisms and PD in Chinese population. (researchsquare.com)
Pharmacogenomic studies focusing on candidate gene polymorphisms implicated in antidepressant response, especially in the serotonergic pathway. (researchsquare.com)
For example, a few studies investigated that 5-HTTLPR, intron 2 (STin2), 5-HTR1A rs6295, 5-HTR2A rs6313 and COMT rs4680 polymorphisms associated with antidepressant response[17-26]. (researchsquare.com)

A meta-analysis showed genetic factors explain approximately 43% of the variance in the PD[4], indicating an important role in the pathological PD. (researchsquare.com)

To date, the PCG is the largest consortium in the field, comprises over 800 investigators worldwide, and has more than 900,000 samples in analysis. (ukw.de)

Several studies have shown an increased risk of cancer after non melanoma skin cancers (NMSC) but the individual risk factors underlying this risk have not been elucidated, especially in relation to sun exposure and skin sensitivity to sunlight. (cdc.gov)
Our population-based study indicates an increased cancer risk after NMSC that cannot be fully explained by known cancer risk factors. (cdc.gov)
Studies have found associations between depression and both cardiovascular disease risk factors and worse cardiovascular disease prognosis. (plos.org)

This study observes that clonal complexity as accessed by IgH HTS is linked to prognostic factors in childhood BCP-ALL, suggesting that it may be a useful diagnostic tool for BCP-ALL status and prognosis. (frontiersin.org)
Some genetic variants are inherited from parents, while others arise spontaneously during cell division or due to environmental factors. (bitesizebio.com)
However, only ~1% of women finally develop cervical neoplasia with HPV infection [ 6 ] because of the strong heritable component and host genetic factors [ 7 ]. (jcancer.org)
Scientists know that asthma is caused by a combination of genetic inheritance and environmental factors including air pollution, chemical substances and indoor and outdoor allergens. (rdworldonline.com)
It is unknown if shared genetic factors contribute to these associations. (plos.org)
Additionally, genetic factors that are closely linked to liver diseases may modify the association between alcohol use and liver diseases but were rarely considered in previous studies [ 12 ]. (biomedcentral.com)

On stratification, IL-10 (-1082 A/G) was significantly associated with hepatocellular carcinoma risk in the non-Asian population under dominant (OR: 0.62, 95% CI: 0.45-0.86, 4 studies), heterozygous (OR: 0.60, 95% CI: 0.43-0.85) and allelic models (OR: 0.79, 95% CI: 0.64-0.99). (biomedcentral.com)
Alleles predicted to be benign were excluded because their inclusion could have masked disease associations caused by damaging allelic variants. (jamanetwork.com)

A Review of Power and Sample Size Estimation in Genomewide Association Studies. (jpmph.org)

Anatomy15

Diseases28

Chemicals and Drugs18

Analytical, Diagnostic and Therapeutic Techniques and Equipment83

Psychiatry and Psychology11

Phenomena and Processes78

Disciplines and Occupations11

Anthropology, Education, Sociology and Social Phenomena4

Technology, Industry, Agriculture2

Information Science24

Named Groups10

Health Care70

Geographicals9

Observational studies12

Analyses27

Variation18

GWAS9

Genes24

Methods16

Heterogeneity8

Variants associated3

Epidemiology4

Epidemiological studies5

Identifying genetic variants2

Loci6

Phenotypes5

Traits6

SNPs9

Populations10

Detect7

Genetics2

Genomic6

Saliva2

Mendelian5

Abstract1

Predisposition1

Investigate6

Genome8

Estimates4

Cohorts1

Causal3

Markers6

Biological6

Assess5

Calculation6

Data22

Methodological1

Polygenic scores1

Differences2

Clinical5

Sufficient2

Identify genetic variants1

Etiology3

Correlation2

Exposures1

Population stratification2

Significance3

Humans3

Heritability1

Approaches1

Participants7

Disease progression2

Results9

Suggestive2

Examine4

Case-control5

20201

Epigenetic1

Findings2

Biomarker2

Polymorphisms6

Showed genetic factors1

Consortium1

Risk factors3

Factors6

Allelic2

Estimation1