Genetic association study of RNF8 and BRDT variants with non-obstructive azoospermia in the Chinese Han population.
Increasing evidence indicates that polymorphisms in genes relevant to spermatogenesis might modulate the efficiency of reproduction in men. Ring finger protein 8 (RNF8) and bromodomain testis-specific (BRDT) are two candidate genes associated with spermatogenesis. Here, we considered potential associations of 14 single nucleotide polymorphisms (SNPs) in RNF8 and BRDT genes in Chinese patients with non-obstructive azoospermia (NOA). We analyzed 361 men with NOA and 368 fertile controls by using Sequenom iplex technology. Our data did not reveal any variants associated with NOA susceptibility. However, we observed that rs104669 and rs195432 of RNF8 were in strong linkage disequilibrium. Haplotype analysis of the two SNPs indicated that the haplotype AC reduced the risk of NOA and the haplotype TC significantly evaluated the risk of NOA. Moreover, the RNF8 variants rs195432 (C/A p = 0.030), rs195434 (T/C p = 0.025), and rs2284922 (T/C p = 0.034) were correlated with the smaller testis volume.
Department of Biology, School of Life Sciences, Anhui Medical University .
Yan
Y
Zhang
Bing
B
Song
Wei-Dong
WD
Du
Xiao-Jin
XJ
He
Jian
J
Ruan
Fu-Sheng
FS
Zhou
Xian-Bo
XB
Zuo
Lei
L
Ye
Xu-Shi
XS
Xie
Yun-Xia
YX
Cao
D053713:Azoospermia / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D004268:DNA-Binding Proteins / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D044767:Ubiquitin-Protein Ligases; D000092468:Bromodomain Containing Proteins
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D044767:Ubiquitin-Protein Ligases; C109570:BRDT protein, human; D000092468:Bromodomain Containing Proteins; C486521:RNF8 protein, human
BRDT; RNF8; male infertility; non-obstructive azoospermia; single nucleotide polymorphisms (SNPs)