Sentences with phrase «minor allele»

There is evidence that minor alleles of both DRD2 and DRD4 (A1 and 7R respectively) decrease the sensitivity and / or concentrations of their respective receptors [17 — 24].

They're not all rare variants, either: 86 million variants are classified as common (G5, G5A, or COMMON), with minor allele frequencies > 1 % in at least one population.

We researched if the proportion of the risk - associated alleles was higher among minor alleles and found selection against risk alleles is drives their frequencies down.

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.

In fact, the most informative markers are likely to have high minor allele frequencies, which likely makes them neutral with respect to selection, and therefore not functional variants.

They found that minor allele carriers had less IL - 28B gene product activation stronger antibody immune response to influenza vaccination.

The Gly661Arg variant of ADAMTS10 was the only variant with minor allele frequency consistent with the prevalence of primary glaucoma in the general beagle population.

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

The MCEE (methylmalonyl — coenzyme A epimerase) variant occurs with African descent (minor allele frequency of 6.8 %).

In particular, the genetic sequencing data demonstrates that the Iceman had a very specific genetic mutation, namely that he was homozygous for the minor allele (GG) of rs10757274, located in chromosomal region 9p21.

The researchers found that individuals who had at least one copy of the minor allele were more likely to achieve seroconversion (i.e. have detectable antibodies against the particular influenza strain) after vaccination.

While 90 % of human SNPs have a minor allele frequency (MAF) below 5 % and therefore are hard to be identified as having an effect, the DO population is balanced by its design and rare variants are uncommon (only 2 % SNPs with MAF < 5 %).

Of the genotyped Icelanders, 7.7 % are homozygotes or compound heterozygotes for loss - of - function mutations with a minor allele frequency (MAF) below 2 % in 1,171 genes (complete knockouts).

They applied a strategy for seraching genes with multiple rare (minor allele frequency < 0.001) variants in cases but not in controls with a potentially damaging effect.

Four histograms that all have «Number of observations of minor allele» as their X-axis.

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.

It is found with African descent at a minor allele frequency of 3.4 %.

The minor allele of rs25532 significantly decreased luciferase reporter gene expression levels by 15 — 80 %, depending on 5 - HTTLPR allele background and cell type.

Research has demonstrated that the minor allele of this SNP is associated with increased binding of transcription factors in the promoter region of the gene which produces a 2.3-fold increase in gene transcription [62].