Variants disease susceptibility. Medical search. Frequent questions

and the recent identification of several CD susceptibility genes has yielded valuable insights into the pathogenesis of this IBD subtype," Dr. Schreiber and colleagues write. (medscape.com)
It has been reported that ITPKC and CASP3 were identified as KD susceptibility genes by genome-wide linkage study and association studies. (nature.com)
Diagnostic and therapeutic methods are provided in this invention involving the correlation of polymorphic variants in MTHFD1 and MTHFD1L and other genes with relative susceptibility for various pregnancy-related and other complications such as cancer, cardiovascular disease, developmental anomalies and psychiatric illnesses. (nih.gov)
Variant filtration prioritized genes based on the enrichment of otherwise rare variants, but did not unambiguously implicate variants shared by a majority of cases. (mcmaster.ca)
it belongs to a class of genes whose products have a role in recognizing bacterial components, and an abnormal inflammatory response to enteric bacteria has been proposed as a pathogenetic mechanism in Crohn disease. (cdc.gov)
These efforts provide new insights into how genomic variants - inherited spelling differences in the DNA code - control how, when and how much genes are turned on and off in different tissues, and can predispose people to diseases such as cancer, heart disease and diabetes. (nih.gov)
GTEx was designed to sample as many tissues as possible from a large number of individuals in order to understand the causal effects of genes and variants, and which tissues contribute to predisposition to disease," said Emmanouil Dermitzakis, Ph.D., professor of genetics at the University of Geneva Faculty of Medicine, Switzerland, and a corresponding author on the main Science paper. (nih.gov)
Background: Genome-wide association studies are widely used to map genomic regions contributing to lung cancer (LC) susceptibility, but they typically do not identify the precise disease-causing genes/variants. (cdc.gov)
To unveil the inherited genetic variants that cause LC, we performed focused exome-sequencing analyses on genes located in 121 genome-wide association study-identified loci previously implicated in the risk of LC, chronic obstructive pulmonary disease, pulmonary function level, and smoking behavior. (cdc.gov)
However, NAFLD is not caused by individual SNPs or genes but by multiple susceptibility genes. (xiahepublishing.com)
Conclusions and Relevance With this meta-analysis of data from African American participants Alzheimer disease was significantly associated with variants in and with additional genes that have been associated CR2 with Alzheimer disease in individuals of Western ancestry. (bio-biz-navi.com)
Understanding what genes are and how changes in genes may affect the body can help you on the journey to diagnosis and treatment of a genetic disease. (nih.gov)
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility. (nih.gov)
Could your genes help determine your susceptibility to Alzheimer's disease? (neurological.org.nz)
The identification of novel genes and pathways involved in disease enables the pursuit of a larger range of disease-specific targets for the development of new therapeutic interventions," the consortium wrote. (genomeweb.com)
DNA sequence variants in known breast cancer susceptibility genes (eg. (otago.ac.nz)
Genetic testing of breast cancer susceptibility genes, BRCA1 and BRCA2, has become common practice for patients with a strong family history of the disease. (otago.ac.nz)
There are several other genes encoding proteins that act in the mismatch repair pathway, but evidence for the involvement of these and other genes in endometrial cancer susceptibility is currently limited. (otago.ac.nz)
Variants in estrogen-related genes and risk of Parkinson's disease. (cdc.gov)
Atlanta 2009/03/09 -A new analysis has found that certain variations in genes that repair DNA can affect a person's risk of developing Hodgkin disease. (cancer.org)
Published in the April 1, 2009 issue of CANCER, a peer-reviewed journal of the American Cancer Society, the study indicates that differences in these genes should be further investigated to better understand individuals' susceptibility to this type of cancer. (cancer.org)
To determine the potential role of genetic variants-or polymorphisms-in DNA repair genes in the development of Hodgkin disease, Dr. Randa El-Zein and colleagues at The University of Texas M.D. Anderson Cancer Center in Houston evaluated the relationship between polymorphisms in five DNA repair genes (XPC, XPD, XPG, XRCC1, and XRCC3) in a population of 200 Hodgkin disease patients and 220 healthy individuals. (cancer.org)
The authors concluded that "these data suggest that genetic polymorphisms in DNA repair genes may modify the risk of Hodgkin disease especially when interactions between the pathways are considered. (cancer.org)
Article: "Genetic polymorphisms in DNA repair genes as modulators of Hodgkin disease risk. (cancer.org)
Common variants in GPR126, PAX1, and other genes has been associated with human AIS. (nih.gov)
A, Peto J. Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. (who.int)

October 6, 2008 - A European genomewide study of ulcerative colitis (UC), a type of inflammatory bowel disease (IBD), has found associations between UC susceptibility and several genetic loci. (medscape.com)
Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity . (bvsalud.org)
A genome-wide association scan in individuals with Crohn's disease by the Wellcome Trust Case Control Consortium detected strong association at four novel loci. (uea.ac.uk)
The researchers first slogged through GWAS data from more than 7,600 patients with advanced AMD and from more than 50,000 controls, homing in on 32 putative loci linked to disease risk. (genomeweb.com)
From this, the researchers reported 19 AMD susceptibility loci, seven of which were novel. (genomeweb.com)
They further estimated that these loci account for between 10 percent and 30 percent of the variability of disease risk. (genomeweb.com)
Breast cancer susceptibility loci and mammographic density. (snpedia.com)
Genetic susceptibility loci for breast cancer by estrogen receptor status. (snpedia.com)
Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort. (snpedia.com)
Although a few loci have been associated with disease susceptibility, most of the genetic contributions to AIS await discovery. (nih.gov)
Nathanson and TECAC teams have used the method to find locations on chromosomes - called loci - that contain variants associated with an increased risk of germ cell tumors. (newswise.com)
Beyond the statistical significance of the new loci, the study also demonstrated two relevant biological pathways tied to disease susceptibility, male germ cell development and chromosomal segregation during cell division. (newswise.com)

We performed whole-exome sequencing of 44 individuals with WNND and identified alleles associated with severe disease by variant filtration in cases, kernel association testing in cases and controls and single-nucleotide polymorphism (SNP) imputation into a larger cohort of WNND cases and seropositive controls followed by genome-wide association analysis. (mcmaster.ca)
Filtering was based on enrichment of rare and potential deleterious variants in cases ( risk alleles) or controls (protective alleles). (cdc.gov)
Bonifati V. LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease. (medlineplus.gov)
This shows that each locus can harbor multiple susceptibility alleles, encouraging searches for rare variants that elucidate disease-related gene function in these regions," the consortium wrote. (genomeweb.com)
Breast cancer susceptibility alleles and ovarian cancer risk in 2 study populations. (snpedia.com)

It will be the new 'family history' that, better yet, gets you both the important variants inherited from each parent and the new mutations that contribute to disease susceptibility. (scienceblog.com)
This is in sharp contrast to the thinking of population geneticists who investigate (by genome wide association studies) how common variants contribute to disease susceptibility. (scienceblog.com)
We find 'rare variants' in aggregate actually contribute to disease susceptibility in a big way. (scienceblog.com)

it maps to the IBD1 region on chromosome 16, previously identified as a susceptibility locus for Crohn disease. (cdc.gov)
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. (snpedia.com)
Interaction between poor glycemic control and 9p21 locus on risk of coronary artery disease in type 2 diabetes. (snpedia.com)
The 9p21 susceptibility locus for coronary artery disease and the severity of coronary atherosclerosis. (snpedia.com)
Association of variation in the chromosome 9p21 locus with myocardial infarction versus chronic coronary artery disease. (snpedia.com)
Variants on a genetic locus related to osteoarthritis also affect the height of an individual, according to research. (hum-molgen.org)

Several SNPs in the HLA region were highly associated with UC susceptibility. (medscape.com)
The JNJ-40411813 association of Alzheimer disease with genotyped and imputed single-nucleotide polymorphisms (SNPs) was assessed in case-control and in family-based data units. (bio-biz-navi.com)
Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. (snpedia.com)
Two recent genome-wide association studies (GWASs) [ 9 , 10 ] indicated associations between single nucleotide polymorphisms (SNPs) of the major histocompatibility complex (MHC) class I region, some cytokines, and BD susceptibility. (molvis.org)
Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study. (snpedia.com)

Genome-wide association studies (GWAS) have revealed numerous common genetic variants that influence susceptibility to disease and adverse drug reactions, as well as inter-individual variation in quantitative traits and drug response ( Manolio, 2013 ). (frontiersin.org)

To identify genetic variants influencing KD susceptibility, we performed a genome-wide association study (GWAS) and replication study using a total of 915 children with KD and 4553 controls in the Korean population. (nature.com)
T), which is in strong linkage disequilibrium (D'=0.926, r 2 =0.798) with the TM6SF2 E167K variant, is also associated with radiologically and histologically characterized NAFLD in both GWAS 20 , 21 and candidate-gene studies. (xiahepublishing.com)
To identify genetic variants associated with Weight in African People in america the Alzheimer Disease Genetics Consortium (ADGC) performed a GWAS among the largest sample to our knowledge of African People in america ever put together for genetic studies of Alzheimer disease. (bio-biz-navi.com)
We performed a genome-wide association study (GWAS) of longitudinal change in CSF t-tau among 317 non-demented elders from the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort in non-Hispanic Caucasians. (researchsquare.com)
Genome-wide association studies (GWAS) have been more successful, identifying common variations associated with risk of the disease. (newswise.com)
CHARGE: Funding support for 'Building on GWAS for NHLBI-diseases: the U.S. CHARGE consortium' was provided by the NIH through the American Recovery and Reinvestment Act of 2009 (ARRA) (5RC2HL102419). (cam.ac.uk)
Sequence data for 'Building on GWAS for NHLBI-diseases: the U.S. CHARGE consortium' was provided by Eric Boerwinkle on behalf of the Atherosclerosis Risk in Communities (ARIC) Study, L. Adrienne Cupples, principal investigator for the Framingham Heart Study, and Bruce Psaty, principal investigator for the Cardiovascular Health Study. (cam.ac.uk)

Researchers funded by the National Institutes of Health Genotype-Tissue Expression (GTEx) project have created a new and much-anticipated data resource to help establish how differences in an individual's genomic make-up can affect gene activity and contribute to disease. (nih.gov)
NIH launched the GTEx Project in 2010 to create a data resource and tissue bank for scientists to study how genomic variants may affect gene activity and disease susceptibility. (nih.gov)
These genomic medicine pilot studies include returning individual genetic variants associated with disease susceptibility or drug response, as well as genetic risk scores for common "complex" disorders. (frontiersin.org)

Researchers have identified more than 100 LRRK2 gene mutations in families with late-onset Parkinson's disease (the most common form of the disorder, which appears after age 50). (medlineplus.gov)
It is unclear how LRRK2 gene mutations lead to the movement and balance problems characteristic of Parkinson's disease. (medlineplus.gov)
A mutation that replaces the amino acid arginine with the amino acid glycine at protein position 1441 (written as Arg1441Gly or R1441G) is a relatively common cause of Parkinson's disease in the Basque region between France and Spain. (medlineplus.gov)
The protein name dardarin comes from the Basque word "dardara," which means tremor, a characteristic feature of Parkinson's disease. (medlineplus.gov)
Studies of several different populations from around the world revealed a common LRRK2 gene mutation in 3 to 7 percent of familial Parkinson's disease cases. (medlineplus.gov)
This particular mutation has also been reported in 1 to 3 percent of sporadic Parkinson's disease cases, in which there is no family history of the disease. (medlineplus.gov)
Studies in Chinese and Japanese populations have identified an LRRK2 gene mutation that occurs more frequently in people with Parkinson's disease than in people without the disease. (medlineplus.gov)
This mutation appears to increase the risk of Parkinson's disease among people in these populations. (medlineplus.gov)
Cookson MR. The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease. (medlineplus.gov)
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. (medlineplus.gov)
Research is increasingly focusing on gut inflammation as a contributor to Parkinson's disease (PD). (researchgate.net)
Background Cognitive impairment is an important and diverse symptom of Parkinson's disease (PD). (researchgate.net)
The translocase of outer mitochondrial membrane 40 ( TOMM40 ) '523' polymorphism has previously been associated with age of Alzheimer's disease onset and cognitive functioning in non-pathological ageing, but has not been explored as a candidate risk marker for cognitive decline in Parkinson's disease (PD). (researchgate.net)
In Parkinson's disease (PD), gut inflammation is hypothesised to contribute to α-synuclein aggregation, but gastrointestinal α-synuclein expression is poorly characterised. (researchgate.net)
Background Several non-motor features of Parkinson's disease (PD) are known to adversely affect patient health-related quality of life (HRQL). (researchgate.net)

Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. (ox.ac.uk)
BACKGROUND AND PURPOSE: Ischemic stroke (IS) and coronary artery disease (CAD) share several risk factors and each has a substantial heritability. (ox.ac.uk)

Santos Silva I. Common breast cancer variants in LSP1 and RAD51L1 associated with mammographic density markers of susceptibility to the disease. (who.int)

PMID 21996731 ] Relevant data indicate that SNP rs889312 in MAP3K1 is correlated with BC susceptibility only in BRCA2 mutation carriers, but is not associated with an increased risk in BRCA1 carriers. (snpedia.com)

In the future, knowing that you have these gene variants and are at increased risk of developing kidney disease may tell you when to start screening for the disease and how to choose therapy," Kopp said. (nih.gov)
Generally, NAFLD is considered a complex disorder in which gene variants and environmental factors interact to determine disease phenotypes. (xiahepublishing.com)
Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome. (snpedia.com)
In a preliminary study, researchers say that they have identified gene variants that are associated with a susceptibility to developing tau deposits in older age. (neurological.org.nz)
The researchers found that people with certain gene variants on chromosomes 1 and 5 had a higher amount of tau in their brains than the people who had the more typical gene sequences in those regions. (neurological.org.nz)
The gene variants were found in around 2 to 3% of the group, and those with the variants had about 10% higher tau levels than those without. (neurological.org.nz)

Importantly, we have established a polygenic risk score that identifies men at highest risk of disease, which could be potentially applied in men with other risk factors, such as [undescended testes] or infertility, to be targeted for early detection and disease mitigation. (newswise.com)
Our approach identifies novel coding variant associations and extends the allelic spectrum of variation underlying diabetes-related quantitative traits and T2D susceptibility. (cam.ac.uk)

Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. (snpedia.com)
With this dataset we identified greater than 10,000 regulatory variants, including those that effect total expression levels, differential splicing and allele specific expression. (europa.eu)
The user is expected to supply the population, age-specific, hazard rate of disease, the allele frequency of causal variants, and the relative-risk of disease for genetic cases. (univ-lyon1.fr)

Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston. (scienceblog.com)
In this study, the whole exome sequencing also identified ways in which physicians could intervene clinically to ameliorate or eliminate negative symptoms and to give families more information about the possible disease course. (scienceblog.com)
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. (cam.ac.uk)

4 - 6 Furthermore, NAFLD, which may be a hepatic manifestation of metabolic syndrome, 7 can result in a variety of extrahepatic complications, including type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD). (xiahepublishing.com)

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues. (bvsalud.org)
Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. (bvsalud.org)
Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome , affecting gene expression levels in a wide variety of tissue types. (bvsalud.org)
We continue to learn more about Omicron each and every day, including about the severity of disease caused by this variant. (cdc.gov)
Note=PLA2G7 variants can be a risk factor for the development of asthma and PLA2G7 may act as a modifier gene that modulates the severity of this disease. (proteopedia.org)

The DNA sequence of ctxB was similar to that of the recently reported Orissa variant identified in India in 2007 ( 3 ). (cdc.gov)
On the basis of the CT-B subunit sequence, these variants differ from variants isolated in southern Africa and from most variants isolated in Asia by having the same modified classical CT as a strain recently isolated in Orissa in eastern India ( 3 ), which has not been reported elsewhere. (cdc.gov)
The revolution in next-generation sequencing has made obtaining both common and rare high-quality sequence variants across the entire genome feasible. (harvard.edu)

Family-based studies to identify genetic susceptibility factors associated with disease have received renewed attention in recent years. (univ-lyon1.fr)

Previous susceptibility studies of IBD have focused more frequently on Crohn's disease (CD) than on UC. (medscape.com)
Several variations in or near the IRGM gene have been associated with an increased risk of developing Crohn's disease. (medlineplus.gov)
An abnormal immune response to bacteria in the intestinal walls may lead to chronic inflammation and the digestive problems characteristic of Crohn's disease. (medlineplus.gov)
Rufini S, Ciccacci C, Di Fusco D, Ruffa A, Pallone F, Novelli G, Biancone L, Borgiani P. Autophagy and inflammatory bowel disease: Association between variants of the autophagy-related IRGM gene and susceptibility to Crohn's disease. (medlineplus.gov)

Children with KD were recruited from 12 tertiary academic hospitals in Korea that participated in the Korean Kawasaki Disease Genetics Consortium (KKDGC). (nature.com)
METHODS: Genome-wide association data were obtained from the METASTROKE, Coronary Artery Disease Genome-wide Replication and Meta-analysis (CARDIoGRAM), and Coronary Artery Disease (C4D) Genetics consortia. (ox.ac.uk)
This research builds on earlier advances in understanding the role of genetics in kidney disease. (nih.gov)
Genetics of coronary artery disease: focus on genome-wide association studies. (snpedia.com)

Breast-ovarian cancer, familial, susceptibility to, 1 (also known as Hboc1 or BRCA1) is an inherited condition that is characterized by an increased risk for a variety of different cancers. (nih.gov)

In this model, individuals who have NOT inherited the causal variant experience disease onset according to the baseline, age-specific, hazard rate of disease. (univ-lyon1.fr)

The NIH Gabriella Miller Kids First Pediatric Research Program (Kids First) and the Knockout Mouse Phenotyping Program (KOMP2) are collaborating on a pilot project to develop mouse strains to study, phenotype, and validate coding and noncoding genetic variants (e.g. missense, structural variants, copy number variants, INDELS, frame shifts) identified from Kids First datasets. (nih.gov)

Identification of eight new ANRIL splice variants. (snpedia.com)

The individual diseases may be rare, but there are thousands of such diseases and many more being defined through genomics," said Lupski. (scienceblog.com)

INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis. (snpedia.com)
PMID 18757290 ] Associations between single nucleotide polymorphisms on chromosome 9p21 and risk of coronary heart disease in Chinese Han population. (snpedia.com)
A genetic variant on chromosome 9p21 and incident heart failure in the ARIC study. (snpedia.com)

The significance of genetic variants in or near the interleukin 10 ( IL10 ) gene, the ARPC2 gene, and the human leukocyte antigen (HLA) complex on chromosome 6 was supported by replication panels in 3 national groups. (medscape.com)
Variants showing the highest association with UC were analyzed further in 3 replication studies from independent European populations in Germany (523 patients with UC, 985 control patients), the United Kingdom (304 patients with UC, 1091 control patients), and Belgium/Netherlands (1028 patients with UC, 1015 control patients). (medscape.com)
Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. (snpedia.com)

GTEx will be a great resource for understanding human biological function, and will have many practical applications in areas such as drug development," said NHGRI Program Director Simona Volpi, Pharm.D., Ph.D. "Scientists studying asthma or kidney cancer, for example, will be interested in understanding how specific variants influence the biological function of the lung, kidney and other organs. (nih.gov)
Research has also shown a link between reduced DNA repair and susceptibility to a variety of cancers, including breast, colon, and lung cancer. (cancer.org)
His laboratory conducted research on how the lung's airspaces become fluid filled (mechanisms of pulmonary edema), how airspace fluid is cleared under both physiologic (fetal lung liquid at birth) and pathophysiologic (pulmonary edema) conditions and population-based studies to discover genetic influences on the development of bronchopulmonary dysplasia and the long term outcomes of neonatal lung disease. (stanford.edu)

The researchers studied a common kidney disease called focal segmental glomerulosclerosis (FSGS), which often progresses to end-stage kidney disease and the need for dialysis or a kidney transplant. (nih.gov)
some of these will be critical in determining susceptibility to common diseases. (nih.gov)
Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of liver dysfunction worldwide, and its prevalence is highly associated with genetic susceptibility. (xiahepublishing.com)
Nonalcoholic fatty liver disease (NAFLD) represents one of the most common chronic liver diseases and has emerged as a prevalent public health concern worldwide. (xiahepublishing.com)
Breast cancer is the most common cancer in women yet for most women the genetic changes underlying their disease remain undetermined or poorly understood. (otago.ac.nz)
Tuberculosis (TB) (see the image below), a multisystemic disease with myriad presentations and manifestations, is the most common cause of infectious disease-related mortality worldwide. (medscape.com)
Although TB rates are decreasing in the United States, the disease is becoming more common in many parts of the world. (medscape.com)
600807 ]. The most common chronic disease affecting children and young adults. (proteopedia.org)

PMID 18048766 ] This SNP was also associated with increased risk for coronary artery disease in a Korean population. (snpedia.com)
A study and meta-analysis of 2,000+ Belgians concluded that rs10757278 is associated with increased risk for coronary artery disease but not ischemic cerebrovascular disease. (snpedia.com)
A study of 1,000+ patients with early-onset angiographic coronary artery disease (CAD) concluded that rs2383206 (G) was associated with an adjusted odds ratio of 1.39 (CI: 1.05-1.85) for (A;G) heterozygotes and 1.73 (CI: 1.26-2.37) for (G;G) homozygotes. (snpedia.com)
T missense in exon 9 of the plasma platelet-activating factor acetylhydrolase gene as an independent risk factor for coronary artery disease in Japanese men. (proteopedia.org)

Chauhan S, Mandell MA, Deretic V. Mechanism of action of the tuberculosis and Crohn disease risk factor IRGM in autophagy. (medlineplus.gov)

We then examined specific overlap across phenotypes for variants that reached a high threshold of significance. (ox.ac.uk)

Importance Genetic variants associated with susceptibility to late-onset Alzheimer disease are known for individuals of Western ancestry but whether the same or different variants account for the genetic risk of Alzheimer disease in African American individuals is unknown. (bio-biz-navi.com)

This invention relates to materials and methods associated with polymorphic variants in two enzymes involved in folate-dependent and one-carbon metabolic pathways important in pregnancy-related complications and neural tube birth defects: MTHFD1 (5,10-methylenetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthase) and methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L). (nih.gov)
They added that genetic variants in the different DNA repair pathways should be further evaluated to better understand their role in Hodgkin disease susceptibility in individuals. (cancer.org)

The genetic contribution to disease risk has been documented more clearly for CD than for UC. (medscape.com)
attributable fraction = f c (R - 1) / R where f c is the fraction of cases with the risk factor and R is the measure of relative risk (or odds ratio for rare diseases). (cdc.gov)
African-Americans with two copies of the APOL1 gene have about a 4 percent lifetime risk of developing a form of kidney disease, according to scientists at the National Institutes of Health. (nih.gov)
African-Americans with no variant or one variant have about the same risk of end-stage kidney disease as their white counterparts," Winkler said. (nih.gov)
People with two APOL1 variants have greatly increased risk of particular kidney diseases - by 17- to 30-fold. (nih.gov)
The researchers found that African-Americans with two copies of the APOL1 variants have about a 4 percent lifetime risk of developing FSGS. (nih.gov)
Possessing two APOL1 variants also raises the risk for African-Americans with HIV of developing HIV-associated nephropathy (HIVAN) - a type of kidney disease that develops in some people with human immunodeficiency virus - to 50 percent among those not getting anti-viral therapy. (nih.gov)
The much higher risk of kidney disease in patients with HIV suggests that a second hit with a virus or other unknown factor is necessary for kidney injury in people who have two APOL1 variants," Winkler said. (nih.gov)
In 2010, working with researchers at Harvard Medical School, among others, Kopp and Winkler found some kidney disease risk is due to variants APOLI, a gene adjacent to MYH9. (nih.gov)
Although this variant appears to be a novel powerful modifier in the development of NAFLD, whether it is associated with an increased risk of NAFLD-related liver fibrosis and hepatocellular carcinoma (HCC) remains to be determined. (xiahepublishing.com)
0.78x reduced risk for Coronary Heart Disease. (snpedia.com)
This SNP, rs10757278 , is one of several clustered together in a region of chromosome 9 that has been linked to increased risk for heart disease and potentially diabetes . (snpedia.com)
rs10757274 and rs2383206 can significantly increase the risk of heart disease [1] . (snpedia.com)
This SNP alone accounted for 21% of the population attributable fraction and was independent of traditional risk factors, myocardial infarction risk, and the extent of disease. (snpedia.com)
This may give us additional avenues for discovery as we work to identify people at risk for this devastating disease and to develop new targets for therapies. (neurological.org.nz)
I'm Commander Ibad Kahn, and I'm representing the Clinician Outreach and Communication Activity, COCA, with the Emergency Risk Communication Branch at the Centers for Disease Control and Prevention. (cdc.gov)
Imaging-based risk stratification identified subclinical disease, and thus an indication for statin treatment, in 86% of the variant carriers. (cdc.gov)
Newly discovered genetic variants in at least six different regions of the genome are associated with increased risk of developing lupus. (hum-molgen.org)
Background: Family-based association tests are important tools for investigating genetic risk factors of complex diseases. (harvard.edu)
On the other hand, individuals who have inherited the rare variant are assumed to have an increased risk of disease relative to those who have not inherited it. (univ-lyon1.fr)
The new findings, published online in Nature Communications , could help doctors understand which men are at the highest risk of developing the disease and signal them to screen those patients. (newswise.com)
Despite significant evidence that susceptibility to these tumors is hereditary, CHEK2 is the only moderate penetrance gene in which pathogenic variants have been associated with risk of the cancer. (newswise.com)
Men with a high polygenic risk score (in the 95th percentile) also had a 6.8-fold increased disease risk compared to men at the median score. (newswise.com)

Studies investigating the association between the tumor necrosis factor (TNF) gene polymorphisms and Behcet's disease (BD) report conflicting results. (molvis.org)
The results of our meta-analysis suggest that TNF (−308A/G, −238A/G, −1031C/T, and −857T/C) polymorphisms are associated with susceptibility to BD. (molvis.org)

STRIDE-II: An Update on the Selecting Therapeutic Targets in Inflammatory Bowel Disease (STRIDE) Initiative of the International Organization for the Study of IBD (IOIBD): Determining Therapeutic Goals for Treat-to-Target strategies in IBD. (nih.gov)
Evidence from both clinical and animal studies have indicated that several GI conditions, including inflammatory bowel disease (IBD), colorectal cancer, and numerous enteric infections are accompanied by considerable changes in mucin quality and quantity. (frontiersin.org)

Chronic inflammation in the etiology of disease across the life span. (nih.gov)

Centers for Disease Control and Prevention. (cdc.gov)
The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)

Many variants of choleragenic vibrios have emerged since the beginning of the seventh pandemic, indicating continuous evolution of this pathogenic agent. (cdc.gov)
The population prevalence of pathogenic or likely pathogenic (P/LP) variants is not known. (cdc.gov)

Protective activity of mRNA vaccines against ancestral and variant SARS-CoV-2 strains. (nih.gov)

Brugada syndrome is a heritable disorder characterized by susceptibility to sudden cardiac death, currently preventable by implantation of an internal cardiac defibrillator. (cdc.gov)

Results: We identified 48 rare variants with deleterious effects in the discovery analysis and validated 12 of the 43 candidates that were covered in the validation platforms. (cdc.gov)
Conclusion: Our results extend the catalogue of regions associated with LC and highlight the importance of germline rare coding variants in LC susceptibility. (cdc.gov)
Questions about rare diseases? (nih.gov)
RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature. (nih.gov)
Many rare diseases have limited information. (nih.gov)
In addition to confirming the 25 percent diagnostic rate in a much larger group of patients, the newest study shows that rare genetic events contribute in a very big way to disease susceptibility, said Yang, first author of the JAMA study. (scienceblog.com)
Rare variants and Mendelian disease are important contributors to disease populations. (scienceblog.com)
The resurgence in popularity is due to the fact that family-based studies have more power to detect rare variants, require smaller sample sizes, and can more accurately detect sequencing errors than case-control studies [9]. (univ-lyon1.fr)
Given a sample of pedigrees we allow for the possibility that different families may segregate different rare variants, but make the assumption that within a family genetic cases are due to a shared rare variant that increases disease susceptibility. (univ-lyon1.fr)
Assume that the variant is rare enough that a single copy has been introduced by one founder, and begin the simulation of the pedigree with this founder, as in [2]. (univ-lyon1.fr)
Simulate the starting founder's rare-variant status with probability equal to the carrier probability of the rare variant in the population. (univ-lyon1.fr)
We note that under this setting pedigrees may not segregate the rare variant. (univ-lyon1.fr)
When the rare variant is present, we transmit it from parent to offspring according to Mendel's laws. (univ-lyon1.fr)
if the disease of interest is sufficiently rare, the user may instead choose to substitute the population age-specific hazard rate for death in the general population. (univ-lyon1.fr)
This identified rare missense variants in the SSPO gene, encoding subcommissural organ spondin, or "sco-spondin", segregating with AIS in five independent families. (nih.gov)
In two of the families we identified rare missense variants in HAPLN1, encoding Cartilage Link Protein 1 (CRTL1) that co-segregated with AIS and were predicted to be deleterious by molecular modeling. (nih.gov)
Further support came from HL120393, 'Rare variants and NHLBI traits in deeply phenotyped cohorts' (Bruce Psaty, principal investigator). (cam.ac.uk)

Scientists have identified a variant in the gene DPP6 that increases susceptibility to amyotrophic lateral sclerosis (ALS). (hum-molgen.org)

Researchers including Jeffrey Kopp, M.D., at the NIH's National Institute of Diabetes and Digestive and Kidney Diseases and Cheryl Winkler, Ph.D, of the National Cancer Institute have begun tracing the effects of having two variants of the APOL1 gene, which occurs in about 12 percent of African-Americans. (nih.gov)
Researchers earlier linked this gene to susceptibility for kidney disease. (nih.gov)
FSGS patients with two APOL1 variants respond as well to steroid treatments as their counterparts who don't have the variants, making steroids a viable treatment option, the researchers found. (nih.gov)
In 2008, Kopp, Winkler and other researchers found that variants in the MYH9 gene on chromosome 22 are linked to susceptibility to various forms of kidney disease . (nih.gov)
Researchers know that the protein tau develops into tangles in the brains of people with Alzheimer's disease. (neurological.org.nz)
The study was supported by the National Institutes of Health, Gerald and Henrietta Rauenhorst Foundation, Alexander Family Alzheimer's Disease Research Award,Elsie and Marvin Dekelboum Family Foundation, Schuler Foundation and Avid Radiopharmaceuticals, which supplied the imaging agent that allows researchers to detect tau in the brain. (neurological.org.nz)
Combining data from multiple studies, this international effort provides insight into the molecular basis of AMD, which will help researchers search for causes of the disease and will inform future development of new diagnostic and treatment strategies," Paul Sieving, the director of the National Eye Institute, said in a statement. (genomeweb.com)
About a quarter of the variants, the researchers added, affect protein sequences. (genomeweb.com)
Researchers identify a candidate tumour suppressor gene for the deletions on chromosome 5q that are associated with certain blood-cell-production diseases. (hum-molgen.org)
Next, researchers will begin to further investigate the increase in TGCT cases observed among Latino men and if the genetic variants observed in mostly white men also exist in that population. (newswise.com)

A variant in a gene called ITPKC is associated with increased susceptibility to Kawasaki disease. (hum-molgen.org)

All strains were tested for antimicrobial susceptibility by MIC determination to tetracycline, trimethoprim/sulfamethoxazole, sulfonamides, ampicillin, chloramphenicol, nalidixic acid, and ciprofloxacin by using Etest (AB bioMérieux, Solna, Sweden) according to Clinical and Laboratory Standards Institute procedures and interpretative standards for V. cholerae ( 1 ). (cdc.gov)
However, more research is needed, including clinical trials that test whether early genetic testing in the African-American population makes a difference, whether screening tests for young adults with the variant copies detects kidney disease at an early stage, and whether early treatment affects long-term outcome. (nih.gov)

Kawasaki disease (KD), a systemic vasculitis of infants and children, manifests as fever and mucocutaneous inflammation. (nature.com)
Kawasaki disease (KD) is an acute, systemic vasculitis that affects mainly children under the age of 5. (nature.com)
Gene Variant Identified for Kawasaki Disease Susceptibility,' February 9, 2017. (calisphere.org)
Mission: To provide an open forum for everyone to freely discuss Kawasaki disease and related matters. (kdforum.org)
When you search parvovirus+kawasaki disease you can find numerous articles as there seems to be a relationship similar to the other pathogens. (kdforum.org)
Kawasaki disease associated with parvovirus B19 infection. (kdforum.org)
Active or recent parvovirus B19 infection in children with Kawasaki disease. (kdforum.org)

To further investigate the association of NOD2 3020insC with Crohn disease, the investigators performed a case-control study. (cdc.gov)
These results are exciting, particularly since we know that tau accumulation is closely related to cognitive impairment in Alzheimer's disease," said study author Vijay Ramanan, M.D., Ph.D., of the Mayo Clinic in Rochester, Minnesota, and a member of the American Academy of Neurology. (neurological.org.nz)
This study found that the frequency of P/LP variants in a predominantly European ancestry population was 1 in 190, significantly higher than prior estimates. (cdc.gov)
Using a large biobank, this study identified and recalled 27 individuals carrying FH-associated variants. (cdc.gov)

However, the prevalence of these 2 diseases in Europe and North America is quite similar: 8 to 214 per 100,000 for CD and 21 to 246 per 100,000 for UC. (medscape.com)
Expected number of controls=(0.04)2×287=0.4592, assuming Hardy-Weinberg equilibrium and prevalence of Crohn disease 1 per 1000 people. (cdc.gov)

Fine mapping and association analyses have not identified a responsible variant, although the role of IL10 as a susceptibility gene for UC seems clear, the authors conclude. (medscape.com)
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn disease. (cdc.gov)
Association between insertion mutation in NOD2 gene and Crohn disease in German and British populations. (cdc.gov)
How strong was the association between NOD2 3020insC and Crohn disease? (cdc.gov)
Allelic association analyses of single-variant and gene-based burden tests of multiple variants were performed. (cdc.gov)
The aim of this review is to describe the functions of the TM6SF2 E167K variant and its association with NAFLD, with particular emphasis on the underlying mechanisms of its role in the development and progression of NAFLD. (xiahepublishing.com)
However, a significant proportion of tests result in the detection of a genetic change for which disease association is not known. (otago.ac.nz)

People who have been previously infected, even with a Delta variant, or ancestral strains, do not necessarily have protection against infection with Omicron. (cdc.gov)

How does this finding implicate NOD2 in Crohn disease? (cdc.gov)

Burden tests revealed strong associations between zinc finger protein 93 gene (ZNF93), DAAM2, bromodomain containing 9 gene (BRD9), and the gene LTB and LC susceptibility. (cdc.gov)
For example, rs4698775 is in strong linkage disequilibrium with a variant that would damage the CCDC109B gene, which encodes a coiled-coil domain-containing protein that is thought to regulate gene expression. (genomeweb.com)

In May and June 2001, three groups of investigators reported that variants of NOD2 were associated with Crohn disease. (cdc.gov)
These investigators studied 416 Crohn disease families, of which 365 had more than one affected member. (cdc.gov)

Anatomy12

Organisms24

Diseases28

Chemicals and Drugs57

Analytical, Diagnostic and Therapeutic Techniques and Equipment38

Psychiatry and Psychology3

Phenomena and Processes83

Disciplines and Occupations5

Anthropology, Education, Sociology and Social Phenomena2

Information Science9

Named Groups4

Health Care22

Geographicals4

Genes26

Loci12

Alleles5

Contribute to disease susceptibility3

Locus6

SNPs5

Influence susceptibility1

GWAS7

Genomic3

Parkinson's15

Ischemic stroke2

Mammographic density1

BRCA21

Gene variants6

Identifies2

Allele3

Exome3

Type 2 diabet1

Severity5

Sequence3

Identify genetic1

Crohn's Disease4

Genetics4

Familial1

Causal1

Copy number v1

Splice variants1

Genomics1

Chromosome 9p213

Replication3

Lung3

Common8

Coronary Artery4

IRGM1

Phenotypes1

Late-onset1

Pathways2

Risk23

Polymorphisms2

Inflammatory2

Chronic1

Centers2

Pathogenic2

Vaccines1

Heritable1

Rare17

Increases1

Researchers10

ITPKC1

Clinical2

Kawasaki7

Study4

Prevalence2

Association7

Previously1

Implicate1

Protein2

Investigators2