Sentences with phrase «alleles associated»

Quantitative trait locus analysis of candidate gene alleles associated with attention deficit hyperactivity disorder (ADHD) in five genes: DRD4, DAT1, DRD5, SNAP - 25, and 5HT1B

Although not balanced in frequency, genetic assessment of the seven STR alleles associated with the DLA class I and II regions showed them to be randomly segregating at this time.

This haplotype has sequence similarities to human major histocompatibility complex alleles associated with susceptibility to type 1 diabetes (89).

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.

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.

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.

We also identify variants at OCA2 that are correlated with alternative splicing; alleles associated with light pigmentation are correlated with a shorter transcript, which lacks a transmembrane domain.

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.

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.

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

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.

Malaria, on the other hand, ebbs and flows over time, so the physiological benefits associated with the sickle - cell allele may be tempered.

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.

The study found that among those at low risk for depression, the «S» (short) allele is associated with a thinner cortex than those with the «L» (long) allele.

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.

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

In African American adults, the team found that the C allele was associated with higher BMI and body fat percentage in those with CT or CC types.

What they found somewhat surprising is that some Neanderthal alleles are associated with lighter skin tones and others with darker skin tones.

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.

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).

To determine whether the homozygous lethal Xpd † XPCS allele was unique in its ability to ameliorate symptoms associated with the XpdTTD allele, we generated compound heterozygous XpdTTD / † XP mice by crossing the corresponding heterozygous animals.

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.

Additionally, we used interface species that were naturally segregating the «rock» allele and «sand» allele at the NCAM CNE to confirm that genotype at the locus is associated with behavioral variation among full siblings within a species.

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.

Consistent with this interpretation, a different targeted Xpd mutation encoding XPDR683W, which is associated with XP in the homozygous state in humans, was similarly underexpressed and lethal in the homozygous state (designated as † XP allele)(Figure 1A — 1C; Table 1; unpublished data).

We study naturally - occurring mutations in prohormone convertases which are associated with obesity, and have shown that inactivating mutations can lead to dominant - negative effects on peptide hormone biology in mice bearing only one mutant allele.

When they expressed a mutant allele from a human sample with CD2AP - associated NS, the renal damage remained unchanged.

This repeat contains nine adenines in NOD / ShiLtJ, A / HeJ, A / WySnJ, and SKH2 / J and 10 adenines in A / J, and NZB / B1NJ, and likely enhances the hearing loss associated with the Cdh23ahl allele (Johnson et al. 2001).

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.