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J Med Genet 2008;45:210-215 doi:10.1136/jmg.2007.054478
  • Original article

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}mcwcums.com
  • Received 11 September 2007
  • Revised 15 November 2007
  • Accepted 20 November 2007
  • Published Online First 21 December 2007

Abstract

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.

Footnotes

  • Competing interests: None.

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