Association of single nucleotide polymorphisms in the USF1, GTF2A1L and OR2W3 genes with non-obstructive azoospermia in the Chinese population.
OBJECTIVE
To research the association between the single nucleotide polymorphisms (SNPs) of three spermatogenesis-related genes (USF1, GTF2A1L and OR2W3) and non-obstruction azoospermia (NOA).


METHODS
We investigated 361 NOA cases and 368 controls from the Chinese Han population, and we used Sequenom iplex technology to analyze the candidate 9 SNPs from the USF1, GTF2A1L and OR2W3 genes.


RESULTS
In this study, we found that the variant rs2516838 of USF1 was associated with NOA susceptibility (P = 0.020, OR = 1.436), and the haplotype TCG of the variants rs1556259, rs2516838, and rs2774276 of USF1 conferred an increased risk of NOA (P = 0.019, OR = 1.436). Furthermore, we found that the rs11204546 genotype of OR2W3 and the rs11677854 genotype of GTF2A1L were correlated with the FSH level in the patients (P = 0.004 and P = 0.018, respectively).


CONCLUSIONS
Our results provided a new insight into susceptibility of USF1 variant with male infertility. Clinically, the SNPs (rs11204546 of OR2W3 and rs11677854 of GTF2A1L ) might be additional valuable molecular predictive markers for assessing the treatment of NOA patients.
Department of Biology, School of Life Sciences, Anhui Medical University, Hefei, 230032, China.
Yan
Y
Zhang
Xiao-Jin
XJ
He
Bing
B
Song
Lei
L
Ye
Xu-Shi
XS
Xie
Jian
J
Ruan
Fu-Sheng
FS
Zhou
Xian-Bo
XB
Zuo
Yun-Xia
YX
Cao
Wei-Dong
WD
Du
D000328:Adult; D044466:Asian People; D053713:Azoospermia / Q000235:genetics* / Q000473:pathology; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018035:Receptors, Odorant / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D051720:Upstream Stimulatory Factors / Q000235:genetics*
C119951:GTF2A1L protein, human; C000601325:OR2W3 protein, human; D018035:Receptors, Odorant; D014157:Transcription Factors; C497181:USF1 protein, human; D051720:Upstream Stimulatory Factors