We conducted a transcriptome-wide analysis of the expression quantitative trait loci (eQTLs) to identify the target genes associated with previously described QTLs associated with gender imbalance. A mixed model explaining polygenic effects by genomic...
We conducted a transcriptome-wide analysis of the expression quantitative trait loci (eQTLs) to identify the target genes associated with previously described QTLs associated with gender imbalance. A mixed model explaining polygenic effects by genomic covariance among individuals was used to identify the eQTLs using gene expression and genotype data from 462 European/African individuals. Eight eGenes were identified for association with four QTLs (P < 4.00 × 10-5), with strong associations found (P < 4.00 × 10-8) between rs2485007 and eGenes ANKRD26P3 (P = 3.40 × 10-9) and LINC00421 (P = 1.35 × 10-9). ANKRD26P3 and LINC00421 are both lncRNAs associated with the control of testis-dominant genes and Y-linked genes, as well as several genes with roles in spermatogenesis and sex determination. These eGenes contribute directly or indirectly to gene regulation for sex determination and spermatogenesis; thus, serving important functional clues for gender-biased selection.