1. 频率主导的major与minor allelemajor和minor allele的区分基于特定群体的频率。在一个二态SNP（单核苷酸多态性）环境中，频率最高的那个allele被称为major allele，频率较低的则是minor allele。在多态性更高的SNP中，minor allele通常是指频率第二高的。例如，在PLINK 1.9中
major allele 与 minor allele 通常针对某一大小确定的特定群体而言,频率最高的allele为该群体的major allele, 频率次高的为 minor allele,对于最常见的bi-allelic SNP来说,两个allele频率一高一低,就是这个群体中这个snp的major和minor allele,对于tri- 或者quad-allelic SNP (位点有三种或四种碱基的SNP)而言,mino...
For SNPs, we contrasted cardiovascular disease incidence of minor-allele heterozygotes and homozygotes (variant) vs. major-allele homozygotes (reference) and for haplotypes carriers vs. non-carriers. In adjusted analyses, we accounted for family clusters and baseline covariables, including sex, age,...
Table 1. Genotype frequencies and association tests of SNPs in the class II region (313 cases of IgAN vs 816 controls) DOA DMB DQB2 DRA SNP information Contig number Location Genetic variation IgAN Major allele Minor allele Total Major homozygous Heterozygous Minor homozygous Total Control Major ...
whereyijwas the pre-adjusted VNN resistance phenotypic value (binary survival or days to death) of theith individual,bjis the allele substation effect of thejth variant,xijare thejth variant genotype classes coded as 0, 1, 2 (number of copies of the minor allele),aiis the random additive ...
(P = 1.25E−05) for all 803 patients (Supplementary TableS8). The variant allele for this SNP was associated with more severe symptoms at baseline. This SNP was associated with increased DEFB1 expression and lower KYN concentrations. None of theAHRSNPs was associated with HAMD-17 or...
risk allele 则很好理解,就是对疾病发生有贡献的那个allele,在复杂疾病的研究中,一般情况下risk allele经常为minor allele,但也会有例外。effect allele的概念也类似,就是我们想要研究其对疾病或表型效应的allele,所以通常是对表型或疾病有贡献的allele,关联检验结果中effect一栏指的就是effect allele的效应。
asSNP—SNP that is associated with significant allele-specific binding bias, rSNP—regulatory SNP, DE—differential expression, MAF— minor allele frequency, ENCODE—encyclopedia of DNA elements, ICGC—international cancer genome consortium Bryzgalov et al. BMC Neurosci 2018, 19(Suppl 1):22 Page 45...
Unlike the approach of most genetic studies that fit an additive effect of allele dose, in our study for SNPs with more than 10% of subjects with the rarest genotype (ie, minor allele frequency > √0.10 = 0.3162), we used a genotypic model parameterized with orthogonal polynomials, providing...
The correlation coefficient would undoubtedly decrease, if we included data from Balkan countries with a moderate prevalence of lactose tolerance, but high frequencies of the local subbranch I2a1-P37.2, which apparently has little to do with the origin of the lactose tolerance allele. Nevertheless,...