title: PRDM9 gene polymorphism may not be associated with defective spermatogenesis in the Chinese Han population.
abstract: PRDM9 is essential for the progression through early meiotic prophase, including double strand break repair, homologous chromosome pairing, and sex body formation during spermatogenesis. In order to evaluate the association of the PRDM9 gene variants with defective spermatogenesis in the Chinese Han population, we assessed two single nucleotide polymorphisms (SNPs) in the PRDM9 gene (rs1874165 and rs2973631) using Sequenom iplex technology in 309 cases of severely defective spermatogenesis (199 cases with non-obstructive azoospermia and 110 cases with severe oligozoospermia) and 377 controls. The allele frequencies of the SNPs were not statistically different between the study groups and the controls (P = 0.95 in rs1874165 and P = 0.80 in rs2973631, respectively). The genetic model analysis of the two SNPs indicated that these SNPs variants may not be associated with defective spermatogenesis in the Chinese Han population.
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University.
authors.forename: Xiao-Jin
authors.initials: XJ
authors.lastname: He
authors.forename: Jian
authors.initials: J
authors.lastname: Ruan
authors.forename: Wei-Dong
authors.initials: WD
authors.lastname: Du
authors.forename: Yun-Xia
authors.initials: YX
authors.lastname: Cao
authors.forename: Gang
authors.initials: G
authors.lastname: Chen
authors.forename: Xian-Bo
authors.initials: XB
authors.lastname: Zuo
authors.forename: Yu-Wan
authors.initials: YW
authors.lastname: Peng
authors.forename: Huan
authors.initials: H
authors.lastname: Wu
authors.forename: Bing
authors.initials: B
authors.lastname: Song
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D053713:Azoospermia / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics*; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013091:Spermatogenesis / Q000235:genetics*
chemical_list: D011495:Histone-Lysine N-Methyltransferase; C544431:PRDM9 protein, human