Sentences with phrase «of disease 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.

Variation in genetic background may alter expression of the disease allele in affected animals, thus accounting for variation in phenotypic expression of the disease.

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.

The process then evaluates the frequency of these alleles, using the results to chart disease progression and assess the effectiveness of treatment.

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.

Several variants, such as the HLA B * 5701 allele, have been associated with the pace of HIV disease progression in both controllers and «normals.»

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.

«Our findings show that a specific genetic marker (known as allele * 2 of the HS1, 2 A enhancer region) influences not just disease activity in RA patients, but also response to therapy in the early stages of their disease,» said lead investigator Dr Gabriele Di Sante of the Institute of Rheumatology and Related Sciences, Catholic University of the Sacred Heart, Rome, Italy.

Genotyping of a population of 329 patients with early RA revealed just over one - quarter had the allele * 2 HS1, 2 A enhancer, and one in 10 the allele * 1 HS1, 2 A enhancer, which is comparable with previously published data.7 Patients with the allele * 2 genotype had more active disease at the start of treatment and were significantly less likely to achieve a good response and / or remission after three months treatment than those patients with the allele * 1 genotype.

Valeriya Lyssenko of Lund University in Malmö, Sweden, and her colleagues set out to determine whether detecting common forms, or alleles, of nine diabetes - linked genes could predict who would develop the disease among a large population.

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.

Because diseases can be endemic to specific regions of the world, these genes exist in thousands of versions, known as alleles.

Even more interesting, the allele is a variant of a gene that might actually be part of the disease process.

The alleles for lactose intolerance and lactose tolerance represent time - tested genes of the human race, just the opposite of the alleles of the Finnish Disease Heritage, which are native born and recent.

With patented DNA chips and corporate backers, he is looking for alleles that distinguish healthy Finns from patients with a family history of heart disease.

Pickrell also reported that the frequency of the ApoE4 allele, which is associated with Alzheimer's disease, drops in older people because carriers died early.

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.

It also contains some of the most variable human genes: hundreds of versions — or alleles — exist of each gene in the population, allowing our bodies to react to a huge number of disease - causing agents and adapt to new ones.

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.

The research also demonstrated how these non-random outcomes can be harnessed to produce a desired effect, such as a gene knockout or the reading frame restoration of a disease - causing allele.

In fairness, I had a fairly unexciting 23andMe profile, absent of hidden Mendelian disease alleles or high - penetrance variants for late onset disease.

Despite reduced levels of mRNA expression, the homozygous lethal Xpd † XPCS allele ameliorated multiple XpdTTD - associated disease symptoms in compound heterozygous XpdTTD / † XPCS animals including the hallmark brittle hair and cutaneous features fully penetrant in homo - and hemizygous TTD mice (Figure 2A — 2C).

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

This classification of alleles as either causative or null currently defines what we refer to as a «monoallelic» paradigm of XPD disease.

We report a variety of biallelic effects on organismal phenotype attributable to combinations of recessive Xpd alleles, including the following: (i) the ability of homozygous lethal Xpd alleles to ameliorate a variety of disease symptoms when their essential basal transcription function is supplied by a different disease - causing allele, (ii) differential developmental and tissue - specific functions of distinct Xpd allele products, and (iii) interallelic complementation, a phenomenon rarely reported at clinically relevant loci in mammals.

In contrast to two hemizygous XPDXPCS patients carrying the XPDG47R - or XPDR666W - encoding alleles who died of the disease before 2 y of age, two compound heterozygous XPDXPCS patients carrying the same XPDG47R - or XPDR666W - encoding alleles in addition to the presumed null XPDL461V + del716 − 730 both had considerably milder disease symptoms and survived more than ten times longer (A. Lehmann, personal communication)(Figure 5).

Examples of compound heterozygous patients in which a second, presumed null allele is likely to contribute to disease outcome are provided above in comparison to corresponding homo - or hemizygous patients with the same causative allele.

We further found that in about 15 % of patients with FLT3 - ITD mutations, loss of the wt - FLT3 allele can be observed, and these patients have a particularly poor outcome, with a median disease free survival between 4 and 6 months.

However, prevailing GWA data analysis methods are focusing on the association of individual SNP alleles with a complex disease, although multiple alleles are involved by definition.

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.

To determine why previously described mutated EYA4 alleles cause SNHL without heart disease, we examined biochemical interactions of mutant Eya4 peptides.

Alternatively, a basic gene drive could spread protective alleles through a population in advance of an impending ecological or disease - based challenge.

At the same time, several studies have outlined the fine specificity of different closely related alleles, in some cases clearly associated with predisposition to disease resistance or susceptibility.

Not so long ago, there was a hope in the research community that common genetic variation, i.e. variants present at minor allele frequencies > 5 % in human populations, might explain most or all of the heritability of common complex disease.

The identification of a single disease allele in 3 related myeloid diseases suggests that the JAK2V617F mutation may be important in the pathogenesis of additional hematopoietic malignancies.

Our objective is to generate a resource that facilitates research into human immune - related diseases by creating a comprehensive database of cell type - and allele - specific epigenomic and transcriptomic data for the immunology community.

These mutant kinases are attractive therapeutic targets, as demonstrated by the efficacy of imatinib in BCR - ABL — positive chronic myelogenous leukemia (CML), 5 as well as in MPD associated with activating alleles involving PDGFRA or PDGFRB.2, 6,7 In addition, activating mutations in the FLT3 receptor tyrosine kinase are the most common genetic event in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknown.

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

The association of an allele with disease is a measure of statistical, not clinical significance.

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

Now a research team led by Broad Institute Imaging Platform director Anne Carpenter and postdoctoral fellow Mohammad Rohban has shown that a high - throughput, computerized imaging technique for studying morphology, called Cell Painting, can provide insight into the cellular roles of genes or disease - linked gene alleles whose function or impact is unknown.

The identification of a single disease allele in 3 different MPDs prompted us to search for JAK2V617F mutations in CMML / aCML, AML, and MDS.

Martins RN, Association of alleles carried at TNFA - 850 and BAT1 - 22 with Alzheimer's 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.