Lu Chuncheng, Zhang Feng, Xia Yankai, Wu Bin, Gu Aihua, Lu Ningxia, Wang Shoulin, Shen Hongbing, Jin Li, Wang Xinru
Jiangsu Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, 210029, China.
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.
J Hum Genet. 2007;52(8):659-663. doi: 10.1007/s10038-007-0160-3. Epub 2007 Jun 9.
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.
相当一部分男性不育症伴有精液分析异常、无精子症或严重少精子症，通常认为这是生精失败的结果。精子发生过程中的遗传因素，特别是Y染色体在精液质量决定中的作用，仍不清楚。为了探讨Y染色体单倍群与生精失败之间的关系，我们收集了285例患有无精子症/少精子症的特发性不育男性和515例有生育能力的男性，采用12个二元标记，并在同一地区招募受试者（病例和对照），以检测在汉族人群中某些Y单倍群是否可能对生精失败具有易感性。结果表明，对照组和病例组中hg K的患病率分别为0.78%（4/515）和2.80%（8/285）。不育男性与正常对照组人群中hg K频率的差异具有统计学意义[比值比（OR）=3.69；95%置信区间（CI）=1.10 - 12.36]（P = 0.028）。然而，在其他单倍群中未发现显著差异。总之，Y单倍群-K可能是男性不育的一个危险因素，该单倍群中的个体需要进一步检查。
