title: The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese.
abstract: A significant proportion of male infertility is accompanied by an abnormal semen analysis, azoospermia or severe oligozoospermia, which is generally assumed to be the result of spermatogenic failure. The genetic contribution in the process of spermatogenesis, particularly the role of the Y chromosome in determination of semen quality, is still obscure. In order to explore the relationship between Y chromosome haplogroup and spermatogenic failure, we collected 285 idiopathic infertile males with azoo-/oligozoospermia and 515 fertile men, adopted 12 binary markers and recruited the subjects (cases and controls) in the same region to test whether there is a possible susceptibility of certain Y haplogroups to spermatogenic failure in the Han Chinese population. The results indicated that the prevalences of hg K in the control and the case population were 0.78% (4/515) and 2.80% (8/285), respectively. The difference between the frequencies of the hg K in the infertile males and the normal control population was significant [odds ratio (OR) = 3.69; 95% confidence interval (CI) = 1.10-12.36] (P = 0.028). However, in the other haplogroups no significant differences were found. In conclusion, Y haplogroup-K might bear a risk factor of male infertility, and the individuals in the haplogroup need to be further examined.
authors.affiliation: Jiangsu Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Chuncheng
authors.initials: C
authors.lastname: Lu
authors.affiliation: MOE Key Laboratory of Contemporary Anthropology and Center for Evolutionary Biology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, 200433, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Jiangsu Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Yankai
authors.initials: Y
authors.lastname: Xia
authors.affiliation: Jiangsu Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Wu
authors.affiliation: Jiangsu Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Aihua
authors.initials: A
authors.lastname: Gu
authors.affiliation: Jiangsu Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Ningxia
authors.initials: N
authors.lastname: Lu
authors.affiliation: Jiangsu Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Shoulin
authors.initials: S
authors.lastname: Wang
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, China.
authors.forename: Hongbing
authors.initials: H
authors.lastname: Shen
authors.affiliation: MOE Key Laboratory of Contemporary Anthropology and Center for Evolutionary Biology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, 200433, China.|CAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.
authors.forename: Li
authors.initials: L
authors.lastname: Jin
authors.affiliation: Jiangsu Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, 210029, China. xrwang@njmu.edu.cn.
authors.forename: Xinru
authors.initials: X
authors.lastname: Wang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D053713:Azoospermia / Q000453:epidemiology* / Q000235:genetics; D002681:China / Q000453:epidemiology / Q000208:ethnology; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000453:epidemiology* / Q000235:genetics; D015995:Prevalence; D013091:Spermatogenesis / Q000235:genetics