Shasha Zou, Pingping Song, Tingting Chen, Jianhua Chen, Xiaojin He, Peng Xu, Ming Liang, Kailing Luo, Xiaobin Zhu, Erpo Tian, Qiang Du, Zujia Wen, Zhiqiang Li, Meng Wang, Yanwei Sha, Yunxia Cao, Yongyong Shi, Zheng Li, Hongliang Hu
Department of Urology, Renji Hospital, School of Medicine, BIO-X Center, Shanghai Jiao Tong University, Shanghai 200030, China; The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; Shenyang Research Center for Reproductive Techniques, Shenyang 110005, China; Second Affiliated Hospital of Shandong, Chinese Medical University, Jinan 250001, China; The Third Hospital of Guangxi Medical University, Nanning 530031, China; The Male General Hospital of Nanchang City in Jiangxi Province, Nanchang 330001, China. Sheng Jing Hospital of China Medical University, Shenyang 110004, China; Xiamen Women and Children Health Care Hospital, Xiamen 361003, China
*These authors contributed equally to this work and should be regard as joint first authors.
Objective: The 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.
Design: A case-control study of the NOA susceptibility genes within the HLA region associations.
Materials and methods: These 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).
Results: The 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).
Conclusions: In 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.
Keywords: Association study; non-obstructive azoospermia (NOA); single nucleotide polymorphism (SNP)
doi: 10.3978/j.issn.2223-4683.2014.s200
