• We conducted a genome-wide association study (GWAS) for ischemic stroke and its subtypes in 3,548 affected individuals and 5,972 controls, all of European ancestry. (nature.com)
  • The ability to perform large-scale association analysis, including genome-wide association studies (GWAS) in many thousands of samples from different populations, and subsequently, the shift to form large international collaborations to perform meta-analyses across many studies has taken the number of independent loci showing genome-wide significant associations with T2D to 44. (nih.gov)
  • Replication study is a commonly used verification method to filter out false positives in genome-wide association studies (GWAS). (springer.com)
  • Thus, it is a better choice when designing replication studies of GWAS. (springer.com)
  • Genome-wide association studies (GWAS) are widely used to identify susceptibility variants of common diseases. (springer.com)
  • More and more associations will be discovered from GWAS. (springer.com)
  • In a sample of 2382 AA individuals from 482 families drawn from the Collaborative Study on the Genetics of Alcoholism (COGA), we performed a genome-wide association study (GWAS) on resting-state fast beta EEG power. (nih.gov)
  • In the last decade, genome-wide association studies (GWAS) have readdressed the perspective of viewing asthma and have identified some novel genes associated with the susceptibility of asthma. (banglajol.info)
  • Here, we identified loci associated to multi-environmental yield-related traits under stripe rust stress in 244 wheat accessions from Sichuan Province through genome-wide association study (GWAS) using 44,059 polymorphic markers from the 55 K single nucleotide polymorphism (SNP) chip. (biomedcentral.com)
  • Genome-wide association study (GWAS) is a powerful tool to identify loci associated to target traits based on linkage disequilibrium (LD) using natural populations. (biomedcentral.com)
  • Several recent genome-wide association studies (GWAS) have identified variants that may affect susceptibility to infectious diseases, demonstrating the potential value of GWAS in this arena. (biomedcentral.com)
  • In genome-wide association studies (GWAS) genetic loci that influence complex traits are localized by inspecting associations between genotypes of genetic markers and the values of the trait of interest. (lu.se)
  • The advent of genome-wide association studies (GWAS) has allowed the search for this class of susceptibility allele to be conducted on a genome-wide basis. (oncotarget.com)
  • To identify genes associated with these economically important traits, columnaris resistance and head size, genome-wide association studies (GWAS) was performed using the catfish 250k SNP array with backcross progenies derived from crossing female channel catfish (Ictalurus punctatus) with male F1 hybrid catfish (female channel catfish I. punctatus × male blue catfish I. furcatus). (auburn.edu)
  • We performed a genome-wide association study (GWAS) in 9919 current and former smokers in the COPDGene study (6659 non-Hispanic Whites [NHW] and 3260 African Americans [AA]) to identify associations with spirometric measures (post-bronchodilator FEV1 and FEV1/FVC). (uib.no)
  • This was accomplished by gathering summary-level data from published genome-wide association studies (GWAS) and analyzing them using fixed effects inverse variance meta-analysis. (pitt.edu)
  • identified six AF susceptibility loci ( PRRX1 , CAV1 , C9orf3 , SYNPO2L , SYNE2 , and HCN4 ) in addition to three previously reported loci ( PITX2 , ZFHX3 , and KCNN3 ) by a genome-wide association study (GWAS) conducted in individuals of European ancestry. (nature.com)
  • Fifty risk-associated variants within 34 glioma genetic risk regions have been found by genome-wide association studies (GWAS) with a sex difference reported for 8q24.21 region. (edu.au)
  • 05). Conclusions: Our study supports a stronger female risk association for the region 8q24.21 CCDC26 and highlights the importance of analyzing glioma GWAS by sex. (edu.au)
  • To identify genetic associations with hip osteoarthritis (HOA), we performed a meta-analysis of genome-wide association studies (GWAS) of HOA. (escholarship.org)
  • Results from GWAS and functional studies provided suggestive links between IGFBP3 and HOA. (escholarship.org)
  • Genome-wide association studies (GWAS) of lung cancer in Asian never-smoking women have previously identified six susceptibility loci associated with lung cancer risk. (elsevierpure.com)
  • To further discover new susceptibility loci, we imputed data from four GWAS of Asian non-smoking female lung cancer (6877 cases and 6277 controls) using the 1000 Genomes Project (Phase 1 Release 3) data as the reference and genotyped additional samples (5878 cases and 7046 controls) for possible replication. (elsevierpure.com)
  • This 27 population is ideal for genome-wide association studies (GWAS) due to the accumulated recombinations 28 among well-defined haplotypes, the relatively high allele frequencies, access to a large collection of tissue 29 samples, and the large allelic effect size compared to human studies. (nih.gov)
  • We performed a GWAS for the IOP phenotype using a linear mixed model and used permutation to 33 determine a genome-wide significance threshold. (nih.gov)
  • Our GWAS results 34 identified three genome-wide significant loci for elevated IOP on chromosomes 1, 5, and 16. (nih.gov)
  • In summary, GWAS using HS rats is a powerful method for 40 identifying genome regions that harbor variants responsible for the variation in quantitative traits, such as IOP. (nih.gov)
  • In the current study, we therefore sought to further investigate the findings of the GWAS and examine the association between 5-HTTLPR and subjective well-being. (gold.ac.uk)
  • We found associations between one SNP derived from the GWAS (rs4958581, NMUR2) and life satisfaction. (gold.ac.uk)
  • Genomewide association studies (GWAS) are increasingly used to detect novel genes and genetic elements associated with bacterial phenotypes, which may provide insight for future preventive strategies and control measures ( 9 - 12 ). (cdc.gov)
  • Recently, a genome-wide association study (GWAS) conducted in Korean subjects identified four CTNNA3 (alpha-T catenin) single nucleotide polymorphisms (SNPs) (rs10762058, rs7088181, rs1786929, and rs4378283) associated with diisocyanate -induced occupational asthma (DA). (cdc.gov)
  • In conclusion, we replicated results from the only reported GWAS study of DA demonstrating an association between two closely linked CTNNA3 gene SNPs and DA. (cdc.gov)
  • Genetic association studies, such as recent genome-wide association studies (GWAS), have provided a springboard for exploring the contribution of inherited genetic variation and gene/environment interactions in relation to disease. (cdc.gov)
  • Recently, genome-wide association studies (GWAS) have begun to systematically examine large numbers of genetic associations [ 4 ]. (cdc.gov)
  • Figure 1: Genome-wide association results at autosomal SNPs in combined UK and German discovery samples. (nature.com)
  • If genotyping cost is a major concern, which often is the case at the present time for genome-wide association studies, these singleton tagging SNPs would be the primary targets to be removed from genotyping. (nature.com)
  • It is important, however, to understand the characteristics of such SNPs and estimate the impact of removing them in a study. (nature.com)
  • Using the HapMap genotype data and genome wide expression data, we assessed the distribution and functional implications of singleton SNPs in the human genome. (nature.com)
  • We further assessed whether singleton SNPs can be tagged using haplotypes of tagSNPs in the three genome wide chips, that is, GeneChip 500k of Affymetrix, HumanHap300 and HumanHap550 of Illumina, and discussed the general implications on genetic association studies. (nature.com)
  • Large scale genome-wide association studies using single nucleotide polymorphisms (SNPs) are now becoming the state of the art in disease genetic studies. (nature.com)
  • It is now known that LD is not only present between SNPs in close physical proximity along the genome, but is also often present between widely spaced markers to form haplotype blocks. (nature.com)
  • If genotyping cost is the primary concern, which may often be the case at the present time for genome-wide association studies, these singleton tagging SNPs would be the primary targets for further removal from the final list of SNPs to be genotyped. (nature.com)
  • In this study, we investigate the distribution and functional implications of singleton SNPs in the human genome using the phase II HapMap data. (nature.com)
  • Commonly, single nucleotide polymorphisms (SNPs) are genotyped across the whole genome in different individuals, and statistical methods are used to detect the associations between SNPs and disease status. (springer.com)
  • Four of the genome-wide SNPs were also associated with Diagnostic and Statistical Manual of Mental Disorders Alcohol Dependence in COGA AA families, and two (rs13093097, rs7428372) were replicated in an independent AA sample (Gelernter et al. (nih.gov)
  • In order to identify a gene(s) susceptible to idiopathic pulmonary fibrosis (IPF), we conducted a genome-wide association (GWA) study by genotyping 159 patients with IPF and 934 controls for 214 508 tag single-nucleotide polymorphisms (SNPs). (bmj.com)
  • Secondary analyses assessed associations of SNPs with pathogen type. (bmj.com)
  • Researchers often use SNPs as genetic markers in disease studies. (biomedcentral.com)
  • A set of 15,214 scorable SNPs was used for the genome-wide analysis. (peerj.com)
  • The preparative yield of tuber starch is a polygenic trait that is associated with a number of SNPs from various regions and chromosomes in the potato genome. (peerj.com)
  • We identified over 1.6 million genome-wide SNPs, which revealed little genetic differentiation among provenances. (inrae.fr)
  • Linkage disequilibrium (r2) decayed below 0.2 over 2 kb, suggesting that our genome-wide SNPs were sufficient to capture most genetic variation. (inrae.fr)
  • Family-based association analyses were used to identify associated variants in the linkage regions, with a cluster of SNPs (minimum association p = 1.3 × 10 -8 ) found at the 5q31 linkage peak. (northwestern.edu)
  • Genome-wide, clusters of multiple SNPs in the 10 -6 to 10 -8 p-value range were found at chromosomes 5p13, 5q31, 7q32, 8p22, and 10q23, highlighting glutamate-related genes. (northwestern.edu)
  • Methods: We analyzed genome-wide data from the Australian Genomics and Clinical Outcomes of Glioma (AGOG) consortium for 7 573 692 single nucleotide polymorphisms (SNPs) for 560 glioma cases and 2237 controls of European ancestry. (edu.au)
  • Logistic regression analysis was used to assess the associations of SNPs with glioma risk by subtype and by sex. (edu.au)
  • Here we conducted a large-scale genetic association analysis of educational attainment in a sample of approximately 1.1 million individuals and identify 1,271 independent genome-wide-significant SNPs. (dundee.ac.uk)
  • In a separate analysis of the X chromosome, we identify 10 independent genome-wide-significant SNPs and estimate a SNP heritability of around 0.3% in both men and women, consistent with partial dosage compensation. (dundee.ac.uk)
  • In this paper, we first conducted a genome-wide association analysis by using the SNP genotype data and phenotype data provided by Genetic Analysis Workshop 17 , in order to filter significant SNPs associated with the diseases. (scirp.org)
  • Hence, the discovery of causal variants for common diseases is set to accelerate and it would be advantageous if the functional effects of SNPs could be predicted bioinformatically, in order to direct functional studies and narrow down the best candidate SNPs in regions of the genome that show high LD. (biomedcentral.com)
  • As in the Korean study, highly linked CTNNA3 rs7088181 and rs10762058 SNPs (but not rs4378283 and rs1786929) were significantly associated with DA+ when compared with AWs but not in comparison with DA. (cdc.gov)
  • The human genome is estimated to contain one single nucleotide polymorphism (SNP) every 300 base pairs. (nature.com)
  • The phenotypic datasets were used for 55K single-nucleotide polymorphism (SNP) array-based genome-wide association studies to identify effective resistance loci. (unboundmedicine.com)
  • No single nucleotide polymorphism (SNP) reached genome-wide statistical significance for any outcome measure. (elsevierpure.com)
  • Genome-wide association analysis revealed a novel significant association with a single nucleotide polymorphism on chromosome 4 (rs56405341) in a locus containing three genes, including JADE1 which was significantly upregulated in tangle-bearing neurons by single-soma RNA-seq. (mssm.edu)
  • The human genome is thought to contain one SNP every 100-300 bp. (nature.com)
  • Ours is the first study that has attempted to evaluate the entire human genome for variants potentially involved in the acquisition or severity of SAB. (biomedcentral.com)
  • The recent sequencing of the human genome has provided a wealth of information detailing several million genetic variations between individuals. (biomedcentral.com)
  • Millions of single nucleotide polymorphisms have been identified as a result of the human genome project and the rapid advance of high throughput genotyping technology. (cdc.gov)
  • Variation in the human genome contributes to differences in response to environmental risk factors and disease susceptibility [ 1 ]. (cdc.gov)
  • As a result of the Human Genome Project [ 2 ] and advances in new genotyping technology [ 3 ], genetic association studies have been flourishing. (cdc.gov)
  • Gene Prospector ranks the genes according to the amount of published literature in human genome epidemiology, as well as relevant, published research in two animal (rat and mouse) models. (cdc.gov)
  • Gene Prospector is a component of HuGE Navigator, an integrated knowledge base for genetics association and human genome epidemiology [ 7 ]. (cdc.gov)
  • Gene Prospector was developed as a component of HuGE Navigator, an integrated, searchable, Web-based knowledge base of genetic associations and human genome epidemiology. (cdc.gov)
  • Published literature in human genome epidemiology is selected from PubMed and deposited in the HuGE Navigator database. (cdc.gov)
  • 12 , 14 The extent of LD determines the number of markers needed to cover a region or the whole genome. (nature.com)
  • To investigate the genetic bases of leaf specialized metabolites, we performed whole-genome low coverage (~10X) sequencing of all individuals phenotyped in order to perform genome-wide association mapping. (inrae.fr)
  • Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. (thieme-connect.com)
  • I. Iossifov, T. Zheng, M. Baron, T. C. Gilliam and A. Rzhetsky, "Genetic-Linkage Mapping of Complex Hereditary Disorders to a Whole-Genome Molecular-Interaction Network," Genome Research, Vol. 18, 2008, pp. 1150-1162. (scirp.org)
  • To address this aim we have designed the lungNENomics study, an international cohort of over 250 cases of pulmonary carcinoids, with clinical data and central pathology review, as well as whole-genome sequencing, RNA sequencing, DNA methylation array, and digital spatial profiling data. (who.int)
  • Key characteristics of study populations and analytic approaches used, along with publication impact (e.g., number of citations), were tabulated. (cdc.gov)
  • Although this study identified no common variant of large effect size to have genome-wide significance for association with either the risk of acquiring SAB or severity of SAB, the variant (rs2043436) most significantly associated with severity of infection is located in a biologically plausible candidate gene ( CDON , a member of the immunoglobulin family) and may warrant further study. (biomedcentral.com)
  • rs11158547 in PPP1R36-PLEKHG3 and rs1028727 near SERPINE3 at genome-wide significance that replicate in independent Asian cohorts imputed to 1000 Genomes. (qub.ac.uk)
  • Among them, variants at 4q25, located upstream of PITX2 , far exceeded the preset threshold for genome-wide significance and demonstrate strong association with AF in both Europeans and Japanese popupations. (nature.com)
  • In this paper, we perform a genome-wide association study using a 22K SNP potato array to identify for the first time genomic regions associated with starch granule morphology and to increase number of known genome loci associated with potato starch yield. (peerj.com)
  • International Glaucoma Genetics Consortium, NEIGHBORHOOD consortium & UK Biobank Eye and Vision Consortium 2019, ' Multi-trait genome-wide association study identifies new loci associated with optic disc parameters ', Communications Biology , vol. 2, no. 1, 435. (qub.ac.uk)
  • We found some significant associations with candidate loci associated with AD (SLC24A4, MS4A6A, HS3ST1) and progressive supranuclear palsy (MAPT and EIF2AK3). (mssm.edu)
  • This study aimed to identify psychological and neuroimaging metrics collected before acupuncture treatment that might determine acupuncture efficacy in knee osteoarthritis. (medscape.com)
  • We performed a genome-wide association analysis for the leaf specialized metabolites, identified candidate genes and checked for signatures of selection along the genome. (inrae.fr)
  • Markus, H.S. Genetics studies in ischaemic stroke. (nature.com)
  • Fast beta (20-28 Hz) electroencephalogram (EEG) oscillatory activity may be a useful endophenotype for studying the genetics of disorders characterized by neural hyperexcitability, including substance use disorders (SUDs). (nih.gov)
  • Richard Dawkins, have used a wider definition of "gene" than the one used in genetics on occasion, extending it to any DNA sequence with a function. (wikipedia.org)
  • Although GWASs essentially combine epidemiological study designs with molecular genetic analysis techniques, it has also fundamentally changed the way in which research was done in human genetics by the introduction of large consortia of collaborating investigators. (thieme-connect.com)
  • This 38 study highlights the efficacy of HS rats for investigating the genetics of elevated IOP and identifying potential 39 candidate genes for future functional testing. (nih.gov)
  • Our study underlines that research investigating complex traits in the field of behavioral genetics is challenging due to their (a) pleiotropic and (b) polygenic effects, resulting in tiny effect sizes of each marker investigated. (gold.ac.uk)
  • Genetics of physiological dysregulation: findings from the long life family study using joint models. (sdu.dk)
  • Although linkage and small-scale candidate gene studies were highly successful in the identification of genes, which, when mutated, caused monogenic forms of T2D, they were largely unsuccessful when applied to the more common forms of the disease. (nih.gov)
  • QTLs and candidate genes detected in our study for yield-related traits under stripe rust stress will facilitate elucidating genetic basis of yield-related trait and could be used in marker-assisted selection in wheat yield breeding. (biomedcentral.com)
  • 41 Additional studies are ongoing to further narrow the list of candidate genes in these intervals. (nih.gov)
  • The pathogenesis of PART is not known, but evidence suggests an association with genes that promote tau pathology and others that protect from Aβ toxicity. (mssm.edu)
  • Due mainly to the rapidly decreasing cost of sequencing (currently below $5k per genome), it is likely that within the next 5-10 years we will identify genes which account for a significant fraction of total IQ variation. (discovermagazine.com)
  • The best-studied of these genes are involved in a part of the body's immune response known as the complement system. (medlineplus.gov)
  • Changes in both genes have been studied as possible risk factors for the disease. (medlineplus.gov)
  • Given the capacity of such studies to produce a plethora of information that may then be described in a number of publications, selecting possible disease susceptibility genes and identifying related modifiable risk factors is a major challenge. (cdc.gov)
  • We developed a Web-based application that selects and prioritizes potential disease-related genes by using a highly curated and updated literature database of genetic association studies. (cdc.gov)
  • We compared Gene Prospector results for the query "Parkinson" with a list of 13 leading candidate genes (Top Results) from a curated, specialty database for genetic associations with Parkinson disease (PDGene). (cdc.gov)
  • In fact, Gene Prospector included more published genetic association studies for the 13 leading candidate genes than PDGene did. (cdc.gov)
  • Investigators planning studies within cohorts have many options for choosing an efficient sampling design for genome-wide association and other molecular epidemiology studies. (aacrjournals.org)
  • Nonetheless, choosing the sampling design for a particular molecular epidemiology study is always challenging, and investigators choose among sampling schemes for reasons that are not always obvious or explained. (aacrjournals.org)
  • Epidemiology of Perceived Physical Fatigability in Older Adults: The Long Life Family Study. (sdu.dk)
  • RESULTS: NBDPN publications focused on prevalence estimates (N=17), surveillance methods (N=11), risk factor associations (N=10), mortality and other outcomes among affected individuals (N=6), and descriptive epidemiology of various birth defects (N=5). (cdc.gov)
  • Reich K, Kruger K, Mossner R, Augustin M. Epidemiology and clinical pattern of psoriatic arthritis in Germany: a prospective interdisciplinary epidemiological study of 1511 patients with plaque-type psoriasis. (medscape.com)
  • We additionally identified a novel genome-wide significant locus with FEV1 on chromosome 9 [DBH] in a meta-analysis of three study populations. (uib.no)
  • In separate study populations, the rs788748 A allele was also associated with lower circulating IGFBP3 protein levels (p=4×10(-13)), suggesting that this SNP or a variant in linkage disequilibrium could be an IGFBP3 regulatory variant. (escholarship.org)
  • Background: We examined how expanding electrocardiographic trait genome-wide association studies to include ancestrally diverse populations, prioritize more precise phenotypic measures, and evaluate evidence for shared genetic effects enabled the detection and characterization of loci. (elsevierpure.com)
  • We investigate this problem through a mixture of research questions and by studying individuals, families and populations. (brookes.ac.uk)
  • Results: We illustrate the use of AliGater in a high-resolution flow cytometry-based genome-wide association study on 46 immune cell populations in 14 288 individuals. (lu.se)
  • Further genome-wide association studies in obese and diabetic Arab populations could add to our understanding of the pathophysiology, prevention and reversal of this disease. (who.int)
  • The association of the 4q25 susceptibility variant for atrial fibrillation with stroke is limited to stroke of cardioembolic etiology. (nature.com)
  • A large number of studies have been conducted to examine the genetic susceptibility of asthma over the past three decades. (banglajol.info)
  • Abstract #1906: Common sequence variants confer susceptibility to thyroid cancer. (aacrjournals.org)
  • Conclusions This study identified three novel coding variants and four new susceptibility gene regions for SLE. (bmj.com)
  • Whether these genetic susceptibility loci modify previously identified exposure-disease associations is unclear. (who.int)
  • A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). (medscape.com)
  • If an association between one specific SNP and a certain disease has been identified in the primary study and confirmed in the replication study, we usually treat this association as true positive with a high confidence. (springer.com)
  • The second one uses a genome wide study on Parkinson disease (data acquired by using Illumina HumanHap300 SNP chips). (biomedcentral.com)
  • To our knowledge, MegaSNPHunter is the first approach that is capable of identifying the disease-associated SNP interactions from WTCCC studies and is promising for practical disease prognosis. (biomedcentral.com)
  • Since the sheer volume of data generated by SNP studies is difficult to be manually analyzed, an efficient computational model is required to detect or indicate which pattern is most likely associated with the disease. (biomedcentral.com)
  • This review examines the most used current epigenetic clocks and details the associations between epigenetic age acceleration and asthma/allergic disease. (mdpi.com)
  • In large meta-analyses, associations between FADS1-2-3 and carotid intima media thickness, AGPAT1 and type 2 diabetes, and APOA1 and coronary artery disease were observed. (uni-luebeck.de)
  • abstract = "Primary age-related tauopathy (PART) is a neurodegenerative pathology with features distinct from but also overlapping with Alzheimer disease (AD). (mssm.edu)
  • Similarly, the genetic association database (GAD) [ 13 ] has archived over 3,600 dbSNP and HGVBase entries that have reported disease associations from published clinical studies, although very few of these statistical associations are validated. (biomedcentral.com)
  • 2018). Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. (harvard.edu)
  • 2018) Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk. (harvard.edu)
  • A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. (medscape.com)
  • Highly active antiretroviral therapy (HAART) improves survival in HIV-associated Hodgkin's disease: results of a multicenter study. (medscape.com)
  • Some variants found may yield new insight if studied in conjunction with both types of cancer in the meta-analysis, such as ABO for endometrial cancer, a known genetic factor in ovarian cancer risk. (pitt.edu)
  • We performed meta-analysis of five genome-wide association studies of femoral neck and lumbar spine BMD in 19,195 subjects of Northern European descent. (eur.nl)
  • We conducted a meta-analysis of five European family-based genome-wide association studies (N = 4034) on plasma levels of 24 sphingomyelins (SPM), 9 ceramides (CER), 57 phosphatidylcholines (PC), 20 lysophosphatidylcholines (LPC), 27 phosphatidylethanolamines (PE), and 16 PE-based plasmalogens (PLPE), as well as their proportions in each major class. (uni-luebeck.de)
  • Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy. (bvsalud.org)
  • Prevalence of psoriatic arthritis in patients with psoriasis: A systematic review and meta-analysis of observational and clinical studies. (medscape.com)
  • A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32. (medscape.com)
  • Eleven markers located on chromosomes 1A, 2B, 5A, 5D, 7B, and 7D by the genome-wide association studies analysis showed significant associations with at least two resistance-associated traits in two of the environments. (unboundmedicine.com)
  • Preparative yield, amylose/amylopectin content, and phosphorylation of potato tuber starch are starch-related traits studied at the genetic level. (peerj.com)
  • In this project, we studied QTLs for two economically important traits. (auburn.edu)
  • A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. (qub.ac.uk)
  • Genome wide association studies use "phenes" or "traits" (symptoms) to distinguish groups in the human population. (wikipedia.org)
  • In conclusion, our study identified nine novel phospho- and sphingolipid loci, substantially increasing our knowledge of the genetic basis for these traits. (uni-luebeck.de)
  • 30% Hispanic/Latino) into 6 contiguous, physiologically distinct (P wave, PR segment, QRS interval, ST segment, T wave, and TP segment) and 2 composite, conventional (PR interval and QT interval) interval scale traits and conducted multivariable-adjusted, trait-specific univariate genome-wide association studies using 1000-G imputed single-nucleotide polymorphisms. (elsevierpure.com)
  • 2018). Mixed-model association for biobank-scale datasets. (harvard.edu)
  • Study protocols were approved by the Ethics Committee of Guangdong Pharmaceutical University (2019-19) and the Ethics Committee of Liuzhou Maternity and Child Healthcare Hospital (2018-84). (cdc.gov)
  • Study design Previously generated GWA data from the Neonatal Research Network's anonymised genomic database biorepository of extremely premature infants were used for this study. (bmj.com)
  • This review focuses on the principal findings of the genomic studies investigating the genome-wide association of moderate to severe asthma and how it is transitioning the phenotype-based approach towards the fundamental genomic studies. (banglajol.info)
  • Four major lessons can be derived from ongoing genomic and genetic studies. (humankinetics.com)
  • To determine the evolutionary mechanisms of opportunistic pathogenicity, we conducted a genomic surveillance study in China. (cdc.gov)
  • By using a 2-stage genomewide association study process, we compared genomic differences between infection and carriage isolates to address genomic variation associated with pathogenicity. (cdc.gov)
  • Conclusions: Despite including one-third as many participants as published electrocardiographic trait genome-wide association studies, our study identified 6 novel loci, emphasizing the importance of ancestral diversity and phenotype resolution in this era of ever-growing genome-wide association studies. (elsevierpure.com)
  • Objective To identify genetic variants associated with sepsis (early-onset and late-onset) using a genome-wide association (GWA) analysis in a cohort of extremely premature infants. (bmj.com)
  • Simulation studies and a real data example illustrate the advantages of this new approach compared to single-marker analysis or modern model selection strategies based on separately analyzing genotype and ancestry data, as well as to single-marker analysis combining genotypic and ancestry information. (lu.se)
  • This has changed substantially with the introduction of genome-wide association studies (GWASs) a decade ago, fueled by studies and reference projects of human genetic diversity and the development of novel DNA analysis technology applicable to high-throughput and large-scale data generation. (thieme-connect.com)
  • The APOE ε4 allele is associated with a reduction in FEV1/FVC in women: A cross-sectional analysis of the Long Life Family Study. (sdu.dk)
  • Second, we conducted a bioinformatics analysis of gene-phenotype association matrix to identify gene modules (biclusters). (scirp.org)
  • These evidences are often based on the derivation of standard measures of association, linking (epi-)genetic markers to gene expression combined with gene expression analysis (Wagner, Busche, Ge, Kwan, & Pastinen, 2014). (researchgate.net)
  • Each publication was reviewed and classified by type (e.g., risk factor association analysis). (cdc.gov)
  • Mediators of the association between childhood trauma and pain sensitivity in adulthood: a Multidisciplinary Approach to the Study of Chronic Pelvic Pain Research Network analysis. (medscape.com)
  • abstract = "Motivation: AliGater is an open-source framework to accelerate the development of bioinformatic pipelines for the analysis of large-scale, high-dimensional flow cytometry data. (lu.se)
  • Results from a genome-wide association study. (aacrjournals.org)
  • On the contrary the results of these studies implicate a large number of gene alleles that have a very small effect (phene). (wikipedia.org)
  • Results from functional studies were consistent with association results. (escholarship.org)
  • Golimumab, a new human tumor necrosis factor alpha antibody, administered every four weeks as a subcutaneous injection in psoriatic arthritis: Twenty-four-week efficacy and safety results of a randomized, placebo-controlled study. (medscape.com)
  • Gina Lundberg, MD, a preventive cardiologist from Emory University in Atlanta, Georgia, who was not involved in the study, said the results aren't that surprising because it's known that metabolic syndrome , which includes a waist circumference over 40 inches for men or 35 inches for women as one of its five criteria, is more common in women than men, and more dangerous. (medscape.com)
  • A systematic review of genome-wide association studies for pain, nociception, neuropathy, and pain treatment responses. (medscape.com)
  • To map loci for CGN, we conducted a genome-wide linkage scan (GWLS) using SNP genotypes. (northwestern.edu)
  • We replicated previous associations for cardioembolic stroke near PITX2 and ZFHX3 and for large vessel stroke at a 9p21 locus. (nature.com)
  • Figure 2: Forest plot for the associations between rs11984041 and large vessel stroke in discovery and replication collections. (nature.com)
  • If an association can be confirmed in a replication study, it will have a high confidence to be true positive. (springer.com)
  • To design a replication study, traditional approaches calculate power by treating replication study as another independent primary study. (springer.com)
  • However, this approach will make the designed replication study underpowered since we are only interested in the positive associations from the primary study and the problem of the "winner's curse" will occur. (springer.com)
  • An Empirical Bayes (EB) based method is proposed to estimate the power of replication study for each association. (springer.com)
  • This is used to determine the sample size of replication study. (springer.com)
  • Our new method can objectively determine replication study's sample size by using information extracted from primary study. (springer.com)
  • Replication study is a commonly used approach to verifying positive findings [ 3 , 4 ]. (springer.com)
  • If an association identified in the primary study cannot be confirmed in the replication study, we often suspect that it is a false positive. (springer.com)
  • The power of replication study is crucial in this validation process. (springer.com)
  • If the replication study is underpowered, then the positive findings will have a low chance to be replicated. (springer.com)
  • It's essential to design a replication study with enough statistical power. (springer.com)
  • How to estimate the power of a replication study in the design phase? (springer.com)
  • Traditionally, a replication study is regarded as another independent primary study. (springer.com)
  • One may think to plug the observed effect sizes from the primary study in the power calculation of the replication study. (springer.com)
  • Replication of genome-wide significant SNP associations (p ≤5×10(-8)) was examined in five studies (3243 cases and 6891 controls, combined). (escholarship.org)
  • CTNNA3 (alpha-catenin) gene variants are associated with diisocyanate asthma: a replication study in a Caucasian worker population. (cdc.gov)
  • Replication studies identify several genetic variants in Arabs with obesity-linked diabetes. (who.int)
  • Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. (medscape.com)
  • We conducted a candidate gene association study to replicate these findings in Caucasian workers. (cdc.gov)
  • Analyses in the AA adolescent/young adult (offspring from COGA families) subsample indicated association of rs11720469 with heavy episodic drinking (frequency of consuming 5+ drinks within 24 h). (nih.gov)
  • Genome-wide association analyses of leaf rust resistance in cultivated emmer wheat. (usda.gov)
  • Although these methods perform well on small data sets, most of them (except BEAM) are unable to efficiently detect the multi-SNP interactions in genome wide association study. (biomedcentral.com)
  • Methods We performed a large-scale exome-wide study in 5004 SLE cases and 8179 healthy controls in a Han Chinese population using a custom exome array, and then genotyped 32 variants with suggestive evidence in an independent cohort of 13 246 samples. (bmj.com)
  • ABSTRACT The Arab world is experiencing an epidemic of obesity and type 2 diabetes mellitus. (who.int)
  • A new study provides further evidence that higher waist size and waist-to-hip ratio signal a greater risk for myocardial infarction (MI) than general obesity , especially in women. (medscape.com)
  • Peters noted that previous studies have indeed shown that central adiposity might be a stronger risk factor than overall obesity, but there have been studies that have shown the opposite - that it actually does not matter where adiposity is measured. (medscape.com)
  • A major limitations on the study design in our particularly in central obesity, which is health issue in the Arab world is the ris- exclusion criteria. (who.int)
  • Figure 3: Genetic heterogeneity of different stroke subtypes for the four loci with significant associations. (nature.com)
  • Additionally, we evaluated the joint effect of the host and pathogen genomes in association with severity of SAB infection via logistic regression, including an interaction of host SNP with bacterial genotype, and adjusting for age (by decade), sex, the 6 significant principal components, and dialysis status. (biomedcentral.com)
  • Conclusions In a large genome-wide association study of lung function in smokers, we found genome-wide significant associations at several previously described loci with lung function or COPD. (uib.no)
  • Very large genome wide association studies have not found many significant gene linkages. (wikipedia.org)
  • This effort yielded 25 genome-wide significant loci for phospholipids (smallest P-value = 9.88×10 -204 ) and 10 loci for sphingolipids (smallest P-value = 3.10×10 -57 ). (uni-luebeck.de)
  • Although many works have been done to identify and quantify the importance of multi-SNP interactions, few of them could handle the genome wide data due to the combinatorial explosive search space and the difficulty to statistically evaluate the high-order interactions given limited samples. (biomedcentral.com)
  • In order to identify genetic predictors of response, we have combined data from two consortia to carry out a genome-wide study of response to MTX in 1424 early RA patients of European ancestry. (elsevierpure.com)
  • This study updates cancer incidence rates and trends using the most recent and comprehensive US cancer registry data available. (cdc.gov)
  • Empirical evidence from genome-wide association studies can supplement intuition and simulations in comparing properties of various case-control designs within cohorts. (aacrjournals.org)
  • The mechanisms underlying the association of 4q25/ PITX2 with AF phenotypes have not been elucidated. (nature.com)
  • LifeLines Cohort Study. (thieme-connect.com)
  • Mechanisms underlying familial aggregation of exceptional health and survival: A three-generation cohort study. (sdu.dk)
  • Multimodal hypersensitivity derived from quantitative sensory testing predicts pelvic pain outcome: an observational cohort study. (medscape.com)
  • These groups are then employed to identify associations with genetic alleles that are more common in the symptomatic group than in the asymptomatic control group. (wikipedia.org)
  • The purpose of this study was to identify 30 genetic loci underlying elevated IOP using HS rats. (nih.gov)
  • To identify new risk variants and to confirm reported associations, we conducted a genome-wide association study in 1,701 CRC cases and 14,082 cancer-free controls from the Finnish population. (ucl.ac.uk)
  • Currently, genome-wide association studies have been proved to be a powerful approach to identify risk loci. (scirp.org)
  • Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. (cdc.gov)
  • This study was undertaken to identify the predominant HIV-1 subtypes among infected female sex workers (FSWs) in Nigeria. (bvsalud.org)
  • on the other hand, their interactions are suspected to possess stronger associations with complex diseases. (biomedcentral.com)
  • abstract = "Male sexual orientation is influenced by environmental and complex genetic factors. (northwestern.edu)
  • abstract = "Bone mineral density (BMD) is a heritable complex trait used in the clinical diagnosis of osteoporosis and the assessment of fracture risk. (eur.nl)
  • abstract = "Background: Glioma accounts for approximately 80% of malignant adult brain cancer and its most common subtype, glioblastoma, has one of the lowest 5-year cancer survivals. (edu.au)
  • BACKGROUND: Given the lack of a national, population-based birth defects surveillance program in the United States, the National Birth Defects Prevention Network (NBDPN) has facilitated important studies on surveillance, research, and prevention of major birth defects. (cdc.gov)
  • BACKGROUND: While previous studies have identified a range of factors associated with mask wearing in the US, little is known about drivers of mask-wearing among racial and ethnic minority groups. (cdc.gov)
  • However, few genetic studies have been conducted focusing the moderate to severe asthma, and the molecular targets explain a small proportion of asthma heritability. (banglajol.info)
  • Genome-wide association studies of common diseases for common, low penetrance causal variants are underway. (biomedcentral.com)
  • The invisible cost of pain management by the current International Classification of Diseases coding system: a study in a tertiary care inpatient setting. (medscape.com)
  • Here, we performed a genetic association study in an autopsy cohort of individuals with PART (n = 647) using Braak neurofibrillary tangle stage as a quantitative trait. (mssm.edu)
  • E7 from human papil omavirus type 16 cooperate to cancer: the European prospective investigation into doi:10.1093/carcin/bgp321 PMID:20047954 target the PDZ protein Na/H exchange regulatory cancer and nutrition study. (who.int)
  • Functional studies were performed using in vitro models of chondrogenesis and osteogenesis. (escholarship.org)
  • Recent statistics indicate that number of epidemiological studies standing of the role of excessive fat dep- nearly 50% of the total Arab population from each country, we did not set any osition in promoting insulin resistance, are less than 25 years of age. (who.int)
  • Next, I discuss ongoing Genome Wide Association Studies which investigate the genetic basis of intelligence. (discovermagazine.com)
  • Converging findings presented in this study provide support for the role of genetic variants within 3q26 in neural and behavioral disinhibition. (nih.gov)
  • Figure 4: Plot of association signals around rs11984041 for large vessel stroke in the combined UK and German discovery samples. (nature.com)
  • Large part of this research was performed during MB visit at Stanford University, financed by the Advanced Researchers Fellowship from the Fulbright Association. (lu.se)
  • Taylor W, Gladman D, Helliwell P, Marchesoni A, Mease P, Mielants H. Classification criteria for psoriatic arthritis: development of new criteria from a large international study. (medscape.com)
  • Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remains unexplained variability in genetic risk. (ucl.ac.uk)