Association of single nucleotide polymorphisms in the USF1, GTF2A1L and OR2W3 genes with non-obstructive azoospermia in the Chinese population

作者：Zhang, Yan; He, Xiao-Jin; Song, Bing; Ye, Lei; Xie, Xu-Shi; Ruan, Jian; Zhou, Fu-Sheng; Zuo, Xian-Bo; Cao, Yun-Xia; Du, Wei-Dong^*

来源：Journal of Assisted Reproduction and Genetics, 2015, 32(1): 95-101.

DOI：10.1007/s10815-014-0369-y

• Male infertility
• USF1
• GTF2A1L
• OR2W3
• Single nucleotide polymorphisms (SNPs)

To research the association between the single nucleotide polymorphisms (SNPs) of three spermatogenesis-related genes (USF1, GTF2A1L and OR2W3) and non-obstruction azoospermia (NOA).
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.
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).
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.

• 出版日期2015-1
• 单位皖南医学院; 安徽医科大学