Sentences with phrase «risk variants»

It is possible to have other genetic risk variants not included in these reports.

If he carries many risk variants, he is likely to become addicted should he start smoking.

Belsky and his colleagues calculated a genetic risk score for each of 880 individuals in the Dunedin cohort by summing the number of risk variants each of them carried.

deCODE BreastCancer ™ may also be used to modulate the risk profile of the early onset inherited forms of breast cancer in women who have tested positive for risk variants in the BRCA1 or BRCA2 genes.

Newly identified genetic risk variants for celiac disease related to the immune response.

Based on these results, Sebat proposes a more complex model of how autism arises, in which mothers pass on mutations affecting coding regions, which have large effects that women are protected from, while fathers pass on variants affecting noncoding regions; their effects are much more moderate and may only cause symptoms when combined with risk variants from mothers.

independently predict renal function decline in individuals with two copies of APOL1 risk variants.

The most important finding was that over 110 common risk variants show some sort of link to the risk of developing MS.

Profile of common prostate cancer risk variants in an unscreened Romanian population.

The team then extended its analysis to include genetic risk variants associated with hundreds of illnesses beyond lupus.

This suggests that autistic children might have inherited risk variants in regulatory regions from their fathers but not their mothers, the researchers report today in Science.

«We are the first to show a possible genetic connection in this respect,» said Dr. Amin, adding that this implies that such a therapy might be beneficial for patients carrying risk variants in the NKPD1 gene.

«But in this case, when this virus infects cells, the virus makes its own transcription factors, and those sit on the human genome at lupus risk variants (and at the variants for other diseases) and that's what we suspect is increasing risk for the disease.»

«This is really the first time we've gone from risk variants highlighted by GWAS to a mechanistic and molecular understanding — right down to the nucleotide — of how a mutation can contribute to the risk of developing disease,» says Whitehead Founding Member Rudolf Jaenisch, who is also a professor of biology at MIT.

To see if distant gene regulatory elements on the same chromosome carrying SNCA could affect cellular levels of alpha - synuclein, a team of researchers led by Frank Soldner, a senior researcher in the Jaenisch lab, investigated two GWAS - flagged risk variants located in a putative SNCA enhancer.

In an analysis of postmortem human brain tissue from 137 control subjects, they also found an association between the ECR47 risk variant and reduced ADGRL3 expression in the thalamus, a key brain region for coordinating sensory processing in the brain.

Working at the molecular level, the investigators showed how expression of the IFITM3 protein was reduced in killer T cells of patients with the high - risk variant compared to other patients.

«It is now clear that common risk variants fail to explain the vast majority of genetic heritability for any human disease,» they wrote in an essay, arguing that many of the hundreds of GWAS findings to date «stem from factors other than a true association with disease risk.»

More analyses will be needed to detect risk variants with smaller effects, or ultra-rare variants.

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

BACKGROUND The aim of the present study was to explore risk variants for coronary artery disease (CAD) and to evaluate their joint effects (quantified by genetic risk score; GRS) on the

Determining APOL1 renal - risk variant status could better inform physicians and kidney transplant recipients about the projected outcomes of transplanted kidneys.

A new GWAS and meta - analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

New risk variants published today will also be folded into deCODEme ™ Reykjavik, ICELAND, February 10, 2008 - deCODE genetics (Nasdaq: DCGN) today announced the launch of deCODE PrCa ™, a reference laboratory test for common, single - letter variations in the human genome...

5/3: 00 Five independent 6q25 breast cancer risk variants regulate ESR1 and RMND1 and display genotype - phenotype correlations.

Saturday, Oct. 21, 11:20 - 11:40 a.m., South Hall B, South Building Featured Plenary Abstract: Massively parallel reporter assays combined with cell - type specific expression quantitative trait loci profiling identified a functional melanoma risk variant in HIV - 1 inhibitor gene, MX2 J. Choi, National Cancer Institute, et al

Baker, Lauren A., et al. «Genome - Wide Association Anaylsis in Dogs Implicates 99 Loci as Risk Variants for Anterior Cruciate Ligament Rupture.»

This DNA test is able to identify dogs that carry zero, one or two copies of the Type B PRA risk variant.

Dogs that are Homozygous Risk Variant for Type B PRA have a high risk of developing Type B PRA.

Test potential kidney donors of African ancestry for APOL1 risk variants to determine kidney disease risk status.

«Our consortium is devoted to uncovering the genetic causes of migraine and during the past few years we have been able to identify many risk variants.

The SciLifeLab platform NGI Uppsala (SNP&SEQ Technology Platform) has contributed to a large collaborative study which shows that type 2 diabetes is predominantly driven by common risk variants that are widely shared both within and between populations.

Long «molecular haplotypes» greatly increase the information content of the sequence data and make it easier to detect rare inherited genetic risk variants in human diseases.

Professor Peter Kraft at Harvard TH Chan School of Public Health, USA, says: «Given the size of these studies, we expected that we would find a lot of new breast cancer risk variants, but the studies tells us a lot more about which genes are involved, revealing many previously unsuspected genes and genetic mechanisms underlying breast carcinogenesis.

These observations support testing for APOL1 renal - risk variants in deceased African American kidney donors to improve the organ allocation process.

When a DNA variant is known to increase risk for a disease, it is called a genetic risk variant.

In recent years, scientists have identified specific gene variants that increase the risk of these diseases, but these risk variants only go some way to explaining why some people are afflicted by the disease and others are not.

«We then conducted a series of supplementary experiments to identify a probable signal pathway, from the occurrence of the genetic risk variant to clinical symptoms in the form of psychosis and cognitive impairment,» says Professor Landén.

Many of these risk variants localize inside or close to genes that regulate the vascular system.

More than one quarter of children with two copies of a high - risk variant in a specific group of genes develop an early sign of celiac disease called celiac disease autoimmunity (CDA) by age 5.

The risk variants identified in the two studies are common: while some are carried by one woman in a hundred, others are carried by more half of all women.

However, the researchers found that a variation of ECR47 associated with ADHD disrupted ECR47's ability to bind an important neurodevelopmental transcription factor, YY1 — an indication that the risk variant interferes with gene transcription.

«We know that the risk variant HLA - DRB1 * 1501 is common among the population and that its occurrence differs significantly among those who have MS and those who do not,» Dr Harbo explains.