RT Journal Article
SR Electronic
T1 Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 210
OP 215
DO 10.1136/jmg.2007.054478
VO 45
IS 4
A1 Y Yang
A1 M Ma
A1 L Li
A1 W Zhang
A1 C Xiao
A1 S Li
A1 Y Ma
A1 D Tao
A1 Y Liu
A1 L Lin
A1 S Zhang
YR 2008
UL http://jmg.bmj.com/content/45/4/210.abstract
AB 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.