Sentences with phrase «of the allele associated»

The genetic variant identified to be associated with the brain aging rate at the TMEM106B locus is also extremely frequent: 80 percent of the population carries at least one copy of the allele associated with increased aging rate in their genome, Rhinn said.

So every lab has these two pairs and when you breed two dogs they each pass on one of the allele associated with their pair.

Not exact matches

For example, population processes associated with colonization, periods of geographic isolation, socially reinforced endogamy, and natural selection all have affected allele frequencies in certain populations (Jorde et al. 2000b; Bamshad and Wooding 2003).

Until recently, half of the human race died from infectious causes before adulthood, providing strong selective pressure for genetic alleles that enhance host defence but why are the genetic alleles that are most frequently associated with depression so common in the modern gene pool?

(2) The prevalence of the MTHFR A1298C associated 3 genotypes and A / C alleles in the recurrent miscarriage group did not differ significantly from the control.

Inherited Neanderthal genes come in alleles that help fight off nasty viruses such as Epstein - Barr — associated with several kinds of cancer, says Stanford University immunologist Laurent Abi - Rached.

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.

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.

Again, the increased activity in these areas was associated with the number of copies of the A allele carried by individuals — people with two copies showed a larger increase in activity than those with just one.

The team looked for patterns associated with two COLIA1 alleles, called S and s. Women who had one copy of the s allele had bone density in the thighbone and lower spine that was 2 % less than that of women with no s alleles.

The brain scans also showed that the A allele was associated with increased activity in the lateral and medial prefrontal cortex, regions that belong to a network involved in the encoding of emotional memories.

A forward genetic screen in Drosophila melanogaster (fruit flies) identified mutant copies, or alleles, of a gene called cacophony associated with defects in autophagy and cellular homeostasis.

The alleles associated with light pigmentation swept to near fixation outside of Africa due to positive selection, and we show that these lineages coalesce ~ 60 ka, corresponding with the time of migration of modern humans out of Africa.

Finally, in a group of Hispanic children, the researchers found that the C allele (CT, CC types) was associated with a higher BMI score.

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.

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.

I am the Associate Director of the BCM Intellectual and Developmental Disabilities Research Center (IDDRC), Director of the BCM IDDRC and Texas Children's Hospital (TCH) Neurobehavioral Core Facilities, and am the Academic Lead for the behavioral phenotyping component of BCM's Knock Out Mouse Project, an NIH Common Fund Research Program contributing to the International Mouse Phenotyping Consortium's overall goal to create and characterize a null allele of every protein - coding gene of the mouse.

In the current study, the genotype and allele frequency of a SNP in exon 3 of the IL15RA gene were associated with elite human endurance athletes stratified by sport.

A similar pattern has been observed in humans, where alleles associated with lactase persistence in Europe did not rise to significant frequencies until at least the Bronze Age, that is, 3,000 years after the introduction of pastoral livestock35.

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).

Box plots of SF - 36 or DSQ symptom scores associated with mtDNA alleles.

We addressed the potential of different recessive alleles to contribute to the enigmatic pleiotropy associated with XPD recessive disorders in compound heterozygous mouse models.

Here we report the generation of additional mutant Xpd alleles that fail to support viability on their own but nevertheless ameliorate TTD - associated premature segmental ageing, cutaneous features, cellular DNA repair capacity, and UV survival when present in a compound heterozygote state.

Seventy mtDNA SNPs met our minimum minor allele frequency threshold of 5 %, and were included in association tests with demographic and symptomatic variables associated with ME / CFS.

Additionally, we found that CGG10023 carried the alternative allele at ACN9 homologue (S. cerevisiae; ACN9), CKM, and COX4 / 1, all of which are associated with increased winning performance in modern race horses (37, 38).

Exceptions included the ZFAT gene, which is associated with variation in wither height (36), for which both ancient individuals carried a mixture of reference and alternative alleles.

ONE - PARENT SAMPLE SET PARENTAL GUIDANCE RULES: Maternally methylated (red dots) and paternally methylated (blue dots) regions across the human autosomal chromosomes, based on studies of uniparental disomy samplesGENOME RES, 24:554 - 69, 2014 RESEARCHERS Kazuhiko Nakabayashi, Division Chief, Department of Maternal - Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan; David Monk, Principal Investigator, Epigenetics and Cancer Biology Program, Bellvitge Institute for Biomedical Research ORGANISM Human METHODS Bisulfite - seq; bisulfite - chip Methylation is typically associated with the silencing of the nonexpressed allele, making it a convenient marker for imprinted genes, though it's possible for patterns of differential methylation to exist in tissues where both alleles are expressed.

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.

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.

Burger, J., Kirchner, M., Bramanti, B., Haak, W. & Thomas, M. G. Absence of the lactase - persistence - associated allele in early Neolithic Europeans.

The latter work addresses questions including whether infection with different serotypes is associated with distinct types of T cell responses, whether any HLA alleles are associated with pathogenesis or protection, and whether vaccination with a formulation in clinical trials is associated with T cell responses similar to those following infection that might serve as correlates of protection.

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.

A model will be discussed which proposes that such protein factors and associated chromatin features regulate the allele specificity of DNA methylation at differentially methylated imprinting - control regions.

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.

Analysis of cancers in the pedigree of the proband carrying the S98R variant and in two other pedigrees carrying clear loss - of - function alleles showed the presence of BAP1 - associated cancers such as renal cell carcinoma, mesothelioma and meningioma, but not uveal melanoma.

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).

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.

A striking example of the use of LoF alleles to guide therapeutic development for CHD is PCSK9, for which LoF mutations were associated with low levels of LDL cholesterol and protection from CHD; this led to the development of PCSK9 inhibitors.

The gain - of - function sup - 10 (n983) allele [51] confers a rubberband phenotype with focus of action in body wall muscles [52]; the focus of action of daf - 6 is in the amphid and phasmid sheath cells that derive from ABp [53], and daf - 6 animals are defective in the dye - filling (Dyf phenotype) of sensory neurons associated with these structures.

Here we describe a multiplex PCR (MxPCR) approach for capturing 13 leukemia - associated mutation hotspots followed by MiSeq sequencing that enables robust detection of mutations with a variant allele fraction (VAF) as low as 0.8 % (0.008) in blood DNA.

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

Campbell, M.C.; Ranciaro, A.; Froment, A.; Hirbo, J.; Omar, S.; Bodo, J.M.; Nyambo, T.; Lema, G.; Zinshteyn, D.; Drayna, D.; Breslin, P.A.; Tishkoff, S.A. (2012) Evolution of functionally diverse alleles associated with PTC bitter taste sensitivity in Africa.

The benefit seemed to be particularly pronounced in individuals with the apolipoprotein E-e4 allele, a genetic marker associated with late - onset Alzheimer's, which usually happens after the age of 65, and is the most common type of the disease

Per Allele Association of a Sexually Dimorphic Instrument Testing if Waist - to - Hip Ratio Adjusted for Body Mass Index Associates With Type 2 Diabetes and / or Coronary Heart Disease

When participants were stratified by CYP1A2 genotype, the increased risk of MI associated with coffee intake was observed only among carriers of the slow * 1F allele (P =.04 for gene × coffee interaction).

With the advent of micro-satellite markers in late 1990's Bedlington CT came to be associated with the presence of what is known as the 2 - 2 C04107 allele on a particular chromosome.

Frequency of the mutant MDR1 allele associated with ivermectin sensitivity in a sample population of collies from the northwestern United States.