AB200. Association of rs3129878 and rs498422in the HLA region with non-obstructive azoospermia in the Han Chinese population

Abstract

ObjectiveThe previous genome-wide association study (GWAS) of non-obstructive azoospermia (NOA) in the Han Chinese populations identified two NOA-risk loci (rs498422 and rs3129878) within the HLA region, and provided strong evidence for the genetic influence of male infertility. A further case-control study found that only rs3129878 remained to be significantly associated with NOA in the Japanese population. Therefore, we conducted the association study to further validate whether the risk of NOA caused by these two SNPs was still existed in an independent Han Chinese male population, consisting of 550 NOA cases and 555 normal controls.DesignA case-control study of the NOA susceptibility genes within the HLA region associations.Materials and methodsThese two SNPs were analyzed in 550 NOA patients and 555 controls of Chinese origin using direct sequencing. Then, the genotype and allele distributions of them were further analyzed using the online software SHEsis (http://analysis.bio-x.cn).ResultsThe association studies strongly supported the significant association ofrs498422 and rs3129878 with NOA for both genotype and allele distributions (P=0.047 and P=1.87×10, respectively).ConclusionsIn our replication study of Chinese samples, we provided genetic evidence for the contribution of these two NOA-risk SNPs within the HLA genes region in predicting males at high risk of NOA in Han Chinese population. Considering genetic differences among populations, future validating studies in independent samples are suggested.