Article Text

Download PDFPDF
Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population
  1. Y Yang1,
  2. M Ma1,
  3. L Li2,
  4. W Zhang1,
  5. C Xiao1,
  6. S Li2,
  7. Y Ma1,
  8. D Tao1,
  9. Y Liu1,
  10. L Lin1,
  11. S Zhang1
  1. 1
    Department of Medical Genetics and State Key Laboratory of Biotherapy, West China Hospital, West China Medical School, Sichuan University, Chengdu, P R China
  2. 2
    Reproductive Medicine Center, West China Second Hospital, Sichuan University, Chengdu, P R China
  1. Professor S Zhang, Department of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, West China Medical School, Sichuan University, Gaopeng Avenue, Keyuan Road 4, Chengdu 610041, P R China; szzhang{at}


Introduction: Y chromosomes are genetically highly variable due to frequent structural rearrangements. The variations may create a genetic background for the susceptibility to Y-related spermatogenic impairment, although few data have been accumulated about the possible correlation between the Y-chromosome haplotype and the predisposition of men to spermatogenic failure.

Objective: To investigate the possible association of Y-chromosome background with spermatogenic failure.

Methods: The distribution of 18 Y-chromosome haplogroups was compared between 414 infertile men with azoospermia or oligozoospermia and 262 normozoospermic men with or without AZFc deletions in a Han population of Southwest China.

Results: A significant population difference in Y-haplogroup distribution was found between the groups of normozoospermia and azoospemia or oligozoospermia, and between the patient groups with oligozoospermia and azoospermia without AZFc deletions. Interpopulation comparison of Y haplogroup frequencies showed that the distribution of the haplogroups C, K* and O3* were significantly different between the groups.

Conclusion: This study provides evidence for the association of Y-chromosome background with impaired spermatogenesis, suggesting that Y variations play a role in the occurrence and even the severity of spermatogenic failure. Furthermore, both AZFc deletions and other Y-chromosome structural variations may be important for determining the susceptibility to spermatogenic failure. Our findings emphasise the necessity of more extensive study on Y-chromosome variations for better understanding of spermatogenesis and its pathology.

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • Competing interests: None.