A susceptibility locus rs7099208 is associated with non-obstructive azoospermia via reduction in the expression of FAM160B1 |
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| Authors: | Yan Zhang Jing Qian Minghui Wu Mingxi Liu Kai Zhang Yuan Lin Xuejiang Guo Zuomin Zhou Zhibin Hu Jiahao Sha |
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| Affiliation: | 1State Key Laboratory of Reproductive Medicine;2Department of Histology and Embryology;3Department of Epidemiology and Biostatistics and Key Laboratory of Modern Toxicology of Ministry of Education Nanjing Medical University, Nanjing, Jiangsu 210029, China.;4The Center for Reproductive Medicine, The Second Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210011, China. |
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| Abstract: | ![]()
Non-obstructive azoospermia (NOA) is a severe defect in male reproductive health that occurs in 1% of adult men. In a previous study, we identified that rs7099208 is located within the last intron of FAM160B1 at 10q25.3. In this study, we analysed expression Quantitative Trait Loci (eQTL) of FAM160B1, ABLIM1 and TRUB1, the three genes surrounding rs7099208. Only the expression level of FAM160B1 was reduced for the homozygous alternate genotype (GG) of rs7099208, but not for the homozygous reference or heterozygous genotypes. FAM160B1 is predominantly expressed in human testes, where it is found in spermatocytes and round spermatids. From 17 patients with NOA and five with obstructive azoospermia (OA), immunohistochemistry revealed that expression of FAM160B1 is reduced, or undetectable in NOA patients, but not in OA cases or normal men. We conclude that rs7099208 is associated with NOA via a reduction in the expression of FAM160B1. |
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| Keywords: | non-obstructive azoospermia obstructive azoospermia rs7099208 FAM160B1 expression Quantitative Trait Loci apoptosis |
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