Illustration of mediation analyses between historical pathogen prevalence, S
allele frequency of 5 - HTTLPR and cultural values of individualism — collectivism across 29 nations.
Similarly, in the mediation regression where both S allelic frequency and cultural value of individualism — collectivism were included as predictors of global depression prevalence across 12 nations, individualism — collectivism remained a reliable predictor (β = − 0.23, p < 0.05), and the effect of S
allele frequency decreased significantly (from r (12) = − 0.51 to r (12) = − 0.01; Sobel test Z = − 1.92, p < 0.05)(figure 3b).
In the mediation regression where both S allelic frequency and cultural values of individualism — collectivism were included as predictors of global anxiety prevalence across 12 nations, individualism — collectivism remained a reliable predictor (β = − 0.24, p < 0.05), and the effect of S
allele frequency decreased significantly (from r (12) = − 0.55 to r (12) = − 0.08; Sobel test Z = − 1.60, p = 0.05)(figure 3a).
We subsequently conducted a mediation regression where historical pathogen prevalence and S
allele frequency were included as predictors of cultural values of individualism — collectivism across 29 nations.
(b) In the mediation regression where both S allelic frequency and cultural value of individualism — collectivism were included as predictors of global depression prevalence across 12 nations, individualism — collectivism remained a reliable predictor (β = − 0.21, p < 0.05), and the effect of S
allele frequency decreased significantly (from r (12) = − 0.51 to r (12) = − 0.03; Sobel test Z = − 1.92, p < 0.05).
Although the maltreated and comparison groups were comparable in terms of racial composition, to prevent spurious associations that can result from variation in
allele frequency and prevalence of trait by population (24), ancestry proportion scores were generated and included as a covariate in all analyses.
There were no differences in 5 - HTTLPR
allele frequency between the two groups (χ2 = 0.37, df = 2, and P = 0.83).
A weakness of the correlational approach used here is the degree to which this pattern of results could occur as a result of random processes such as genetic drift (fluctuations in
allele frequency due to chance; Keinan et al., 2007).
For the A118G polymorphism, individualism — collectivism partially mediated the relationship between G
allele frequency and depression.
Although fewer countries have data on
the allele frequency of the MAOA polymorphism, there was a significant correlation between allele prevalence and individualism — collectivism (Figure 2) as well.
Across multiple genes then it appears that there is a relationship between
allele frequency and cultural orientation.
Measurement of the human
allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans
These data also raise a fundamental question concerning the nature of the relationship between
allele frequency and cultural orientation.
Ultimately, other methodologies will be necessary for clarifying the relationship between
allele frequency, culture and measures of well - being like depressive symptomatology.
The relationship between
allele frequency and depression was partially mediated by individualism — collectivism, suggesting that reduced levels of depression in populations with a high proportion of social sensitivity alleles is due to greater collectivism.
That's what
allele frequency is all about.
POPTREE2: software for constructing population trees from
allele frequency data and computing other population statistics with Windows - interface
It is fixed in the Dalmatian breed and occurs at high
allele frequency in the Bulldog and Black Russian Terrier breeds [29].
The randomized study reveals a current 2 % PFK mutant
allele frequency in the field trial ESSP breeding population.
HUU test A DNA test for the hyperuricosuria mutation is now available and may be used by breeders to decrease the mutant
allele frequency in breeds that carry the mutation.
Prevalence of HUU mutation The mutant
allele frequency varies among breeds.
Doing a genetic test and subsequently eliminating an individual from the breeding population may not be the best strategy, as by targeting a particular allele at one genetic locus for removal from the gene pool of a particular breed, breeders may in fact increase
allele frequency of genetic variants on alternative haplotypes at the same, or a different locus, that are recessively deleterious.
Illumina 170 K CanineHD datasets for English bulldog and Standard poodle were obtained from other GWAS studies [28, 29] and filtered for minor
allele frequency (< 0.05) and genotype (> 90 %).
As genealogical data was not available for all the DNA tested dogs,
the allele frequency was calculated based on all dogs.
Moreover, overrepresentation of a popular sire's genome risks the widespread dissemination of monogenetic inherited disorders by inflating
the allele frequency of recessive deleterious variants carried by the sire and increasing the probability of identity by descent of undesirable alleles in his descendants [18,20,21].
This variant is also present in a number of Irish Setter dogs with PRA and has an estimated
allele frequency of 0.26 in the breed.
MAIN OUTCOME MEASURE (S): Genotype distribution and
allele frequency of the +1730 G / A polymorphism in the ER - beta gene.
The median mutant
allele frequency (MAF) in the urinary cells with detectable mutations was 8 % (8.14 %.
We identified rare variants with
allele frequency up to 1 % in a reference panel of 433 European individuals from modern Finland, Spain, Italy, Netherlands and Denmark, for which genome - wide sequence data are available16, 17,18.
We selected 1518 single - nucleotide polymorphisms (SNPs) with minor
allele frequency > 5 % in NO and CO signalling pathways.
203/2: 15
Allele frequency distribution of pathogenic sequence variants in ExAC and the implications for clinical genetic testing.
The differences between the samples are highest in low - frequency alleles and decrease with increasing
allele frequency.
We enumerated 49,138 rare (< 1 % minor
allele frequency) pLoF mutations.
For the Dutch and Danish samples, only
allele frequency data was available.
Conversely, in both Eastern and Southwestern regions the Vgsc - 1014F alleles were close to fixation, whilst Ace1 - 119S
allele frequency was 12 % (although frequencies may be underestimated due to copy number variation at both loci).
Because rarecoal explicitly models rare mutations, it estimates separations in mutation clock time rather than genetic drift time, in contrast to methods based on
allele frequency changes in common variants20.
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.
Rarecoal is a new framework to calculate the joint
allele frequency spectrum across multiple populations using rare alleles.
A genome - wide FST scan comparison with previous sequence data from an area in West Africa with higher infection endemicity indicates that regional gene flow prevents genetic isolation, but revealed
allele frequency differentiation at three drug resistance loci and an erythrocyte invasion ligand gene.
Two novel cardiometabolic associations are at lead variants unique to the founder population sequences: chr16: 70790626 (high - density lipoprotein levels beta -1.71 (SE 0.25), P = 1.57 × 10
-11 , effect
allele frequency (EAF) 0.006); and rs145556679 (triglycerides levels beta -1.13 (SE 0.17), P = 2.53 × 10
-11 , EAF 0.013).
Therefore, we developed THE REAL McCOIL, Turning HEterozygous SNP data into Robust Estimates of ALelle frequency, via Markov chain Monte Carlo, and Complexity Of Infection using Likelihood, to incorporate polygenomic samples and simultaneously estimate
allele frequency and COI.
By analyzing imputed data for a large number of human traits, we empirically derive a model that more accurately describes how heritability varies with minor
allele frequency (MAF), linkage disequilibrium (LD) and genotype certainty.
In tumor samples, where we frequently encounter variants with a very small
allele frequency due to contamination with normal tissue, copy number variation, and tumor heterogeneity, high coverage is essential for accurate detection of these variants with high power.
We estimated an average fixation index (FST) value of 0.084 across all polymorphisms and of 0.169 across polymorphisms with a minor
allele frequency (MAF) threshold of 10 % (132,199 SNPs).
Thanks to efforts like the Exome Aggregation Consortium, we now have
allele frequency data from cohorts of more than 50,000 individuals.
Tumor content was estimated at greater than 60 % by histopathologic review of tumor sections (Fig. 1B) and variant
allele frequency analysis.
A - Contrasting patterns of introgression between subspecies of the European rabbit summarized with pie charts of
allele frequency data across the rabbit hybrid zone and shape of genealogies for four representative loci (DIAPH2, HPRT1, FMR1, and MSN; data from [21], [26]--[27].
The polyT repeat in intron 6 of TOMM40 (rs10524523) was genotyped using fluorescence - based fragment size analysis (Supplemental Figure 1; http://neuroscienceresearch.wustl.edu/pages/cruchaga2011.aspx).19 A detailed explanation of the fluorescence - based fragment size genotyping, quality control steps,
allele frequency, and linkage disequilibrium between the studied polymorphisms can be found at http://neuroscienceresearch.wustl.edu/Pages/cruchaga2011.aspx.
Note that the loci represented are biased towards loci previously ascertained to show sharp
allele frequency differences between both ends of the subspecies distributions, and even for some of these we are able to detect introgressed alleles.
A) Histogram of FST values for all SNPs and SNPs showing a minor
allele frequency (MAF) of 10 %.