• PMID: 25374392
• Gene Name: GTF2A1L
• Condition: Non-obstruction azoospermia (NOA)
• Association: The 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 NO
• Mutation: USF1 (rs1556259, rs2516838, and rs2774276), OR2W3 (rs11204546), GTF2A1L (rs11677854)
• Population size: 729
• Population details: 729 (361 NOA cases, 368 controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: USF1, GTF2A1L and OR2W3
• Other associated phenotypes: Non-obstruction azoospermia (NOA)

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

Zhang Y, He XJ, Song B, Ye L, Xie XS, Ruan J, Zhou FS, Zuo XB, Cao YX, Du WD.

PURPOSE: 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. FAU - Zhang, Yan AU - Zhang Y AD - Department of Biology, School of Life Sciences, Anhui Medical University, Hefei, 230032, China. FAU - He, Xiao-Jin AU - He XJ FAU - Song, Bing AU - Song B FAU - Ye, Lei AU - Ye L FAU - Xie, Xu-Shi AU - Xie XS FAU - Ruan, Jian AU - Ruan J FAU - Zhou, Fu-Sheng AU - Zhou FS FAU - Zuo, Xian-Bo AU - Zuo XB FAU - Cao, Yun-Xia AU - Cao YX