Sentences with phrase «variant association studies»

For example, age - related macular degeneration — which affects 10 million Americans and helped establish the value of rare variant association studies for common disease — was cut because it's not fatal.

Not exact matches

But, a new study by Netherlands - based consumer association Consumentenbond, which tested gluten - free variants, found that they contain more fat, sugar and / or salt and less fibre than similar products with gluten.

In this genome - wide association study, researchers found gene variants mapping to five loci associated with intrinsic epigenetic age acceleration (IEAA) and gene variants in three loci associated with extrinsic epigenetic age acceleration.

Meta - analyses of genome - wide association studies conducted in these ethnically - diverse populations identified a total of 878 genetic variants belonging to 18 loci associated with asthma risk.

A second, genome - wide association study scanned the genome for common variants behind autism in more than 10,000 affected children, their families, and controls.

The association study matches genetic variants with a trait by looking at large groups of people with that trait and then compares how their genomes differ from a group without the trait.

Genome - wide association studies are notoriously weak in identifying variants that strongly determine our health.

While several studies in the intervening years have investigated whether particular genes were responsible for modifying HD onset, this is the first to employ genome - wide association (GWA) analysis, which scans an individual's whole genome to identify chromosomal regions containing variants that are associated with the disease traits that are being studied.

A genome - wide association study (GWAS) of 1570 Africans identified variants significantly associated with skin pigmentation, which clustered in four genomic regions that together account for almost 30 % of the phenotypic variation.

All of these studies were genome - wide association studies (GWAS) based on millions of genetic variants called Single Nucleotide Polymorphisms (SNPs).

To capture uncommon genetic variants, the study used an exome genotyping array to genotype 7,060 epithelial ovarian cancer (EOC) cases and 6,712 cancer - free women from the Ovarian Cancer Association Consortium.

Interestingly, a variant of the WNT10A gene associated with lower levels of its protein's expression has been linked to a greater likelihood of male pattern baldness, according to a recent genome - wide association study.

«Face shape is in the genes: Genome - wide association study identifies genetic variants that contribute to healthy facial traits.»

To identify these variants, scientists performed a genome - wide association study.

Ehret, a research associate in Chakravarti's lab, crunched the numbers from all the study sites and found variants at 66 sites in the genome — 17 of them newly reported — that had statistically significant associations with blood pressure levels.

This technique, known as a genome - wide association study, turned up two genetic variants.

Scientists for years have looked for the biological roots of the problem using tools such as genome - wide association studies and gene - linkage analysis, which crunch genetic and health data from thousands of people in an effort to pinpoint disease - causing genetic variants.

So far, «genome - wide association studies» have identified variant DNA sequences showing statistical association with these and other complex diseases, but demonstrating a mechanistic role for these variants has proven elusive.

Candidate gene and genome - wide association studies have identified variants associated with HBV - related disease progression or hepatocellular carcinoma in various populations [46][52].

«A genome - wide association study of positive emotion identifies a genetic variant and a role for microRNAs.»

A decade into the era of well powered and reproducible genome wide association studies, one thing is clear: many complex diseases are extremely polygenic, with thousands or perhaps tens of thousands of segregating variants contributing to variation in risk among individuals.

We found that loss - of - function variants in ABCA7 confer risk of Alzheimer's disease in Icelanders (odds ratio (OR) = 2.12, P = 2.2 × 10 − 13) and discovered that the association replicated in study groups from Europe and the United States (combined OR = 2.03, P = 6.8 × 10 − 15).

While those studies identified several gene variants that appeared to increase the risk of each disorder, none of the associations were strong enough to meet the strict standards of genome - wide significance.

April 17, 2013 Gene study helps understand pulmonary fibrosis A new study looking at the genomes of more than 1,500 patients with idiopathic pulmonary fibrosis, a rare and devastating lung disease, found multiple genetic associations with the disease, including one gene variant that was linked to an increase in the risk of death.

Thus far, nearly all association studies have used data from SNP arrays that measure only a subset of all the common variants.

With the aim of searching for sequence variants that predispose to SSS, a genome - wide association study was performed including 792 Icelanders with SSS and 37,592 Icelandic controls.

For example, genetic association studies of psychiatric disorders have located gene variants associated with the disorders, but have been able to explain only a small percentage of their heritability.

Some of the associated variants were super rare (MAF < 1 %), suggesting that genotyping studies like this are well - powered to detect associations even at allele frequencies below one percent.

Following up on findings from a an earlier genome - wide association study (GWAS) of type 2 diabetes (T2D) in Latinos, researchers from the Broad Institute of MIT and Harvard and Massachusetts General Hospital (MGH) traced an association detected in that study to variants in a specific gene, SLC16A11, and uncovered two distinct mechanisms by which those variants disrupt the gene's function in liver cells, possibly contributing to the pathogenesis of T2D.

In my last post, I reviewed a genome - wide association study highlighting the importance of rare genetic variants in complex disease, specifically age - related macular degeneration (AMD).

Genome - wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.

EML4 was novel, but when the authors imputed sequencing variants into a much larger sample collection (44,414 individuals from 17 other studies), the association didn't hold up.

Genome - wide association studies (GWAS) have been particularly effective in identifying multiple common variants with strong contribution to TGCT risk.

Per the other study led by Prüfer, Kelso and Dannemann could only identify associations between Neanderthal genetic variants and traits of people today, as opposed to determining what these variants actually did in Neanderthals, and how they precisely function now in their distant living relatives.

Recent genetic association studies identified variants in a locus on chromosome 15 (specifically, in the adjacent genes HERC2 and OCA2) that are major determinants of eye color, but the trait is influenced by interaction among at least ten different genes.

The paper, «Genome - wide association study identifies sequence variants on 6q21 associated with age at menarche,» is published in the online edition of Nature Genetics, at www.nature.com/ng, and will be published in an upcoming print edition of the journal.

Potential projects include identifying common pathways that modify retinal degenerative disease from a large collection of actively maintained mouse models; determining molecular networks implicated in pathological disruption of the retinal pigment epithelium; identifying molecular pathways that regulate postnatal ocular growth; and using mouse models to assess the pathogenic role of gene variants that increase the risk of age - related macular degeneration as identified by human genome - wide association studies.

Genome - wide association study identifies a second prostate cancer susceptibility variant at 8q24.

It's no secret that while genome - wide association studies (GWAS) have implicated thousands of genetic loci in human phenotypes, the variants uncovered collectively explain only a fraction of the observed variance between individuals.

This variant, identified by deCODE last year, has been confirmed in over 40 independent populations and has been shown to be the variant with strongest association to diabetes risk in five genome - wide association studies around the world.

«We started with candidate gene studies, then moved to common variants and genome wide association studies, and then, most recently, leveraged exome sequencing, he said.

Genome - wide association study of restless legs syndrome identifies common variants in three genomic regions.

Weighting sequence variants based on their annotation increases power of whole - genome association studies.

This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence varstudies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence varstudies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence varStudies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence varStudies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.

The sequencing work for this project has been done at the Wellcome Trust Sanger Institute, and the next phase of work is to develop a detailed catalogue of variants and a reference panel of quality - controlled genotyping data that can be used for accurate imputation in genome - wide association studies of malaria and other diseases.

Genome - wide association and replication studies identify four variants associated with prostate cancer susceptibility.

Rafnar T Genome - wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.

Genome - wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.

Genome - wide association study identifies sequence variants on 6q21 associated with age at menarche.

The aims of this study were to evaluate whether there is an association between Asp358Ala and COPD or asthma risk, and to explore the role of the Asp358Ala variant in sIL - 6R shedding from neutrophils and its pro-inflammatory effects in the lung.