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

作者：Yuan Yang, Mingyi Ma, Longjiang Li, W Zhang, Chengliang Xiao, Suqing Li, Yongxin Ma, Deyuan Tao, Yàn Liú, Lin Li, Shuling Zhang · 发表于：Journal of Medical Genetics · 年份：2007 · DOI：10.1136/jmg.2007.054478 · 被引用次数：32 · 研究领域：Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities、Sperm and Testicular Function、Forensic and Genetic Research

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 f...