Sentences with phrase «of risk allele»

OptiGen is able to provide updates on the actual frequency of the risk allele in the population as more widespread testing of the breed occurs.

The majority of dogs in the research that carried only one copy of the risk allele did not develop PRA.

All Italian Greyhounds that were homozygous for the IG - PRA1 risk allele were diagnosed with PRA and two copies of the risk allele were never observed in any Italian Greyhounds with normal eye exams (at the risk age or older).

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.

Such strategies may identify compensatory mutations that reduce the pathophysiological effects of the risk alleles, and help determine the cellular pathways required for the normal function of hSERT.

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.

Because of this, risk alleles are overrepresented among minor alleles.»

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.

Women with two copies of s fared even worse: They had bones that were 4 % less dense — and faced a 280 % higher risk of fracture — than did women without any s alleles, says team member Andre Uitterlinden, a molecular geneticist at Erasmus University in Rotterdam, the Netherlands.

«Carriers of this allele had a roughly 2-fold increase in risk for PTSD.»

The research by scientists at Children's Hospital Los Angeles and Columbia University shows a link between a particular allele for serotonin found at a higher frequency in those at risk of depression because of family history, and those who go on to develop major depressive disorder.

Having this allele reduces the risk of severe malaria by about 40 % in Kenyan children, with a slightly smaller effect across all the other populations studied.

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.

As a genetic explorer Peltonen has followed the movement of populations in history, knowing that genes had diversified during the moves, but in Finland as elsewhere only a tiny fraction of the alleles and health risks are distinctive.

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.

«The study also revealed that the risk allele reduces the possibilities of reaching one hundred years of age.»

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.

Given that two separate teams found evidence for the same variant in a large number of sick people, «one can be absolutely confident that this risk allele is real,» says McPherson.

«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.

Intermediate alleles are thought to be at risk of expanding in the offspring of people who carry them.

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

Current collaborative efforts using germ line DNA to identify risk alleles are ongoing.112 An improved understanding of the interaction between inherited risk alleles and the environment (lifestyle choices) could provide a potential means of prevention.

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.

Furthermore, sex - specific differences in gene polymorphism are suggested by one study showing that diabetic women carrying ACE D allele have a higher risk for development of diabetic nephropathy, which was not seen in diabetic men (Table 2)(331).

The results remained significant after adjusting for multiple risk factors including age, sex, race, education, and presence of an APOE ɛ 4 allele.

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.

Published in the European Journal of Cancer Galore - Haskel G, Azizi E, Mohamdi H, Scope A, Chaudru V, Laitman Y, Barak F, Pavlotsky F, Demenais F, Friedman E. MC1R variant alleles and malignant melanoma risk in Israel.

The presence of a common risk allele can indicate a need for increased surveillance, while a negative result implies a risk similar to the general population.

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

We found a significant association between rs10524523 and risk of LOAD in APOE 33 homozygotes but in the opposite direction as the previously reported association (the very long allele was underrepresented in cases vs controls in this study (P =.004]-RRB-.

These limitations can make the interpretation of common risk alleles challenging.

The MAF of common risk alleles can range from 5 % to 50 %.

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

Use of common risk alleles for changes in clinical management can be challenging without a professional guideline.

In contrast, more than 70 other common alleles have been associated with breast cancer susceptibility, most of which confer only a mild to moderate increase in risk.

Common risk alleles with a known association with a condition can inform an individual of an increased or decreased risk of developing the condition in question; however, the degree of certainty is often unknown.

In addition, the clinical sensitivity of tests for common risk alleles is not necessarily high.

However, in subgroup analyses stratified by age, we found that the deletion allele was associated with increased risk for lung cancer among individuals < 50 years of age (OR 2.17, CI 1.19 - 3.97), and that the association was gradually reduced with increasing age (p = 0.01).

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.

Alleles associated with lower levels of low density lipoprotein cholesterol (LDL - C) have recently been associated with an increased risk of type 2 diabetes (T2D), highlighting the complex relationship between LDL - C and diabetes.

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.

At low - density lipoprotein receptor (LDLR), carriers of rare non-synonymous mutations were at 4.2-fold increased risk for MI; carriers of null alleles at LDLR were at even higher risk (13-fold difference).

This observation begs the question whether LDL - C - raising alleles are associated with a decreased risk of T2D.

Another group at increased CVD risk are those with one or two copies of the apoE4 allele (gene).

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.