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


CONCLUSIONS
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.
D044466:Asian People / Q000235:genetics; D053713:Azoospermia / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D041322:Chromosomes, Human, Y / Q000235:genetics*; D017353:Gene Deletion; D056426:Genetic Loci; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics; D010641:Phenotype; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D029589:Seminal Plasma Proteins / Q000235:genetics; D016324:Sequence Tagged Sites; D013091:Spermatogenesis / Q000235:genetics*
D029589:Seminal Plasma Proteins