ORIGINAL ARTICLES

Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population

Y Yang¹, M Ma¹, L Li², W Zhang¹, C Xiao¹, S Li², Y Ma¹, D Tao¹, Y Liu¹, L Lin¹, S Zhang¹

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 Reproductive Medicine Center, West China Second Hospital, Sichuan University, Chengdu, P R China

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

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.

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