title: Association study between polymorphisms of PRMT6, PEX10, SOX5, and nonobstructive azoospermia in the Han Chinese population.
abstract: 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.
authors.affiliation: Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, People's Republic of China.
authors.forename: Shasha
authors.initials: S
authors.lastname: Zou
authors.forename: Zheng
authors.initials: Z
authors.lastname: Li
authors.forename: Yanan
authors.initials: Y
authors.lastname: Wang
authors.forename: Tingting
authors.initials: T
authors.lastname: Chen
authors.forename: Pingping
authors.initials: P
authors.lastname: Song
authors.forename: Jianhua
authors.initials: J
authors.lastname: Chen
authors.forename: Xiaojin
authors.initials: X
authors.lastname: He
authors.forename: Peng
authors.initials: P
authors.lastname: Xu
authors.forename: Ming
authors.initials: M
authors.lastname: Liang
authors.forename: Kailing
authors.initials: K
authors.lastname: Luo
authors.forename: Xiaobin
authors.initials: X
authors.lastname: Zhu
authors.forename: Erpo
authors.initials: E
authors.lastname: Tian
authors.forename: Qiang
authors.initials: Q
authors.lastname: Du
authors.forename: Zujia
authors.initials: Z
authors.lastname: Wen
authors.forename: Zhiqiang
authors.initials: Z
authors.lastname: Li
authors.forename: Meng
authors.initials: M
authors.lastname: Wang
authors.forename: Yanwei
authors.initials: Y
authors.lastname: Sha
authors.forename: Yunxia
authors.initials: Y
authors.lastname: Cao
authors.forename: Yongyong
authors.initials: Y
authors.lastname: Shi
authors.forename: Hongliang
authors.initials: H
authors.lastname: Hu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D053713:Azoospermia / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000379:methods; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D000074401:Peroxins; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011484:Protein-Arginine N-Methyltransferases / Q000235:genetics*; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D055755:SOXD Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: D009687:Nuclear Proteins; C116156:PEX10 protein, human; D000074401:Peroxins; D018160:Receptors, Cytoplasmic and Nuclear; C490301:SOX5 protein, human; D055755:SOXD Transcription Factors; D004247:DNA; C447833:PRMT6 protein, human; D011484:Protein-Arginine N-Methyltransferases
keywords: association study; nonobstructive azoospermia (NOA); single nucleotide polymorphism (SNP)