Sentences with phrase «disease risk alleles»

Performing genetic studies in multiple human populations can identify disease risk alleles that are common in one population but rare in others, with the potential to illuminate pathophysiology, health disparities, and the population genetic origins of disease alleles.

Not exact matches

Individuals were classified as high risk for Alzheimer's if a DNA test identified the presence of a genetic marker — having one or both of the apolipoprotein E-epsilon 4 allele (APOE - e4 allele) on chromosome 19 — which increases the risk of developing the disease.

Within three weeks, they had collected the data that would fuel a series of landmark papers showing that the APOE4 allele is associated with a greatly increased risk of Alzheimer's disease.

The obvious step, Roses realized, was to find out whether individual APOE alleles influence the risk of developing Alzheimer's disease.

Additional analysis of UK Biobank data from 112,338 people of European ancestry revealed that a specific form of rs9349379 known as the G allele, which was present in 36 % of these individuals, was associated with an increased risk of coronary artery disease.

Reviewing thousands of genome wide associate studies (GWAS) to identify genetic variants in single nucleotide polymorphisms (SNPs), investigators at Dartmouth's Norris Cotton Cancer Center found that some alleles (one of a pair of genes located on a specific chromosome) are more frequently risk - associated with disease than protective.

«With respect to disease, alleles can be categorized into being risk or protective ones.

Around the world, innovative genomic - medicine programs capitalize on singular capabilities arising from local health care systems, cultural or political milieus, and unusual selected risk alleles or disease burdens.

4 allele, which is known to increase risk of Alzheimer's disease, influenced the link between sleep - disordered breathing and cognition.

4 allele, are at increased risk of Alzheimer's disease.

Carriers of the apolipoprotein (ApoE) ɛ4 allele are at greater risk for developing late - onset Alzheimer's disease (AD), develop AD at an earlier age, and experience a more severe cognitive decline and shorter survival times.

In addition, in two of the datasets where researchers had age - of - onset data for age - related diseases, they found that certain longevity alleles also were significantly associated with reduced risks for cardiovascular disease and hypertension.

A new study published in the current issue of Biological Psychiatry suggests that even when controlling for the risk for Alzheimer's disease, the APOE ε4 allele also conveys an increased risk for late - life depression.

«Careful analysis of the total number of repeats, the number of interruptions in the repeat tract, and the methylation status of the FMR1 gene is important for a proper understanding of an individual's risk of transmission of larger alleles to their offspring and to their personal risk of disease pathology.

Genome - wide association studies (GWAS) have demonstrated a significant polygenic contribution to bipolar disorder (BD) where disease risk is determined by the summation of many alleles of small

Mostly, I was interested in two things: BRCA1 / 2 mutations and APOE4 alleles, well - established risk variants for cancer and Alzheimer's disease, respectively.

DONG ET AL.The allele apolipoprotein E ε4 (APOE ε4) is the greatest genetic risk factor for Alzheimer's disease (AD), but the role of the ApoE4 protein in AD has long been elusive.

The impact of a common risk allele with disease risk is often modest, as is its impact on clinical care.

Further, there are currently no validated ways of combining multiple risk alleles for the same disease.

Polymorphisms in five of 15 genes (33 %) encoding molecules known to primarily influence pancreatic beta - cell function - ABCC8 (sulphonylurea receptor), KCNJ11 (KIR6.2), SLC2A2 (GLUT2), HNF4A (HNF4alpha), and INS (insulin)- significantly altered disease risk, and in three genes, the risk allele, haplotype, or both had a biologically consistent effect on a relevant physiological trait in the QT study.

We imputed these variants into 104,220 individuals down to a minor allele frequency of 0.1 % and found a recessive frameshift mutation in MYL4 that causes early - onset atrial fibrillation, several mutations in ABCB4 that increase risk of liver diseases and an intronic variant in GNAS associating with increased thyroid - stimulating hormone levels when maternally inherited.

11 ApoE4 heterozygotes (people with one allele) have a five-fold increased risk of developing AD, and homozygotes (two alleles) are estimated to have a staggering lifetime risk between 50 - 90 percent.12 Despite this seemingly damning genetic heritage, the ApoE4 allele is neither required nor sufficient for development of AD, as 50 percent of people with AD are not carriers, and some E4 homozygotes never develop the disease.13 On the other hand, the other known risk factor — hyperinsulinism — elevates risk by 43 percent independently of ApoE status.

Advice on how to make best use of the DNA test for IG - PRA1 needs to account for the possibility that the disease may be inherited in an ADIP manner and that the presence of a single copy of the risk allele may cause PRA in some Italian Greyhounds.

This could explain why some dogs that carry only one copy of the IG - PRA1 risk allele are diagnosed with PRA - they may be carrying two forms of the disease.

It must be noted however that a subset of PRA - affected Italian Greyhounds in the study carried only one copy of the IG - PRA1 risk allele, suggesting that the disease may represent a mode of inheritance called «Autosomal Dominant with Incomplete Penetrance» (ADIP).

However, caution should be used in aggressively selecting against mutant alleles which have low penetrance or low risk for the disease state when the mutant alleles are common throughout the breed.

Specific assortments of MHC alleles or haplotypes have been associated with an increased risk for the development of diabetes and auto immune diseases in humans.

Review: apolipoprotein E ε4 allele is a risk factor for Alzheimer's disease in different ethnic groups

The associated alleles were common in the studied populations and all had only small effects on disease risk [123].