The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / genetics*
  • Azoospermia / epidemiology*
  • Azoospermia / genetics
  • China / epidemiology
  • China / ethnology
  • Chromosomes, Human, Y / genetics*
  • Haplotypes / genetics
  • Humans
  • Male
  • Oligospermia / epidemiology*
  • Oligospermia / genetics
  • Prevalence
  • Spermatogenesis / genetics