• PMID: 24648396
• Gene Name: SOX5
• Condition: Nonobstructive azoospermia (NOA)
• Association: Associated
• Mutation: rs12097821, rs2477686, rs10842262
• Population size: 1105
• Population details: 1105 (550 NOA cases, 555 normal controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: PRMT6, PEX10, SOX5
• Other associated phenotypes: Nonobstructive azoospermia (NOA)

Association study between polymorphisms of PRMT6, PEX10, SOX5, and nonobstructive azoospermia in the Han Chinese population

Zou S, Li Z, Wang Y, Chen T, Song P, Chen J, He X, Xu P, Liang M, Luo K, Zhu X, Tian E, Du Q, Wen Z, Li Z, Wang M, Sha Y, Cao Y, Shi Y, Hu H.

A previous genomewide association study of nonobstructive azoospermia (NOA) in the Han Chinese population identified three risk loci (rs12097821, rs2477686, and rs10842262) and provided strong evidence for a genetic influence in male infertility. However, recently, a follow-up study of these single nucleotide polymorphism (SNP) loci in the Japanese population showed that none of them were significantly associated with NOA. Therefore, we conducted an association study, consisting of 550 NOA cases and 555 normal controls, to further validate whether the risk of those three SNPs still existed in an independent Han Chinese male population. The association studies did not support the association of rs12097821 and rs2477686 with NOA for both genotype and allele distributions, but rs10842262 in the SOX5 gene was significantly associated with NOA (chi square = 9.31; P = 0.0095 and chi square = 9.27; P = 0.0023, respectively). Our study provides genetic evidence for SOX5 polymorphism in NOA, contributing to predicting males at high risk of NOA in Han Chinese population. Considering genetic differences among populations, future validating studies in independent samples are suggested. FAU - Zou, Shasha AU - Zou S AD - Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, People's Republic of China. FAU - Li, Zheng AU - Li Z FAU - Wang, Yanan AU - Wang Y FAU - Chen, Tingting AU - Chen T FAU - Song, Pingping AU - Song P FAU - Chen, Jianhua AU - Chen J FAU - He, Xiaojin AU - He X FAU - Xu, Peng AU - Xu P FAU - Liang, Ming AU - Liang M FAU - Luo, Kailing AU - Luo K FAU - Zhu, Xiaobin AU - Zhu X FAU - Tian, Erpo AU - Tian E FAU - Du, Qiang AU - Du Q FAU - Wen, Zujia AU - Wen Z FAU - Li, Zhiqiang AU - Li Z FAU - Wang, Meng AU - Wang M FAU - Sha, Yanwei AU - Sha Y FAU - Cao, Yunxia AU - Cao Y FAU - Shi, Yongyong AU - Shi Y