A susceptibility locus rs7099208 is associated with non-obstructive azoospermia via reduction in the expression of FAM160B1

作     者：Yan Zhang Jing Qian Minghui Wu Mingxi Liu Kai Zhang Yuan Lin Xuejiang Guo Zuomin Zhou Zhibin Hu Jiahao Sha 

作者机构：State Key Laboratory of Reproductive MedicineNanjing Medical University The Center for Reproductive MedicineThe Second Affiliated Hospital of Nanjing Medical University Department of Histology and EmbryologyNanjing Medical University Department of Epidemiology and Biostatistics and Key Laboratory of Modern Toxicology of Ministry of Education Nanjing Medical University 

出 版 物：《The Journal of Biomedical Research》 (生物医学研究杂志（英文版）)

年 卷 期：2015年第29卷第6期

页      面：491-500页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 10[医学] 

基　　金：supported by the grants from the 973 program(2011CB944304 and 2015CB943003) 

主　　题：non-obstructive azoospermia obstructive azoospermia rs7099208 FAM160B1 expressionQuantitative Trait Loci apoptosis 

摘      要：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 FAM16OB1, ABLIM1 and TRUB1, the three genes surrounding rs7099208. Only the expression level of FAM16OB1 was reduced for the homozygous alternate genotype （GG） of rs7099208, but not for the homozygous reference or heterozygous geno- types. FAM160B1 is predominantly expressed in human testes, where it is found in spermatocytes and round sper- matids. 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.