Identification of risk genes in Chinese nonobstructive azoospermia patients based on whole-exome sequencing

作     者：Yu-Jun Liu Xin-Jie Zhuang Jian-Ting An Hui Jiang Rong Li Jie Qiao Li-Ying Yan Xu Zhi 

作者机构：Center for Reproductive MedicineDepartment of Obstetrics and GynecologyPeking University Third HospitalBeijing 100191China National Clinical Research Center for Obstetrics and GynecologyBeijing 100191China Key Laboratory of Assisted ReproductionPeking UniversityMinistry of EducationBeijing 100191China Peking-Tsinghua Center for Life SciencesPeking UniversityBeijing 100191China Department of UrologyPeking University Third HospitalBeijing 100191China Department of AndrologyPeking University Third HospitalBeijing 100191China 

出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)

年 卷 期：2023年第25卷第1期

页      面：66-72页

核心收录：

学科分类：1002[医学-临床医学] 100210[医学-外科学(含：普外、骨外、泌尿外、胸心外、神外、整形、烧伤、野战外)] 10[医学] 

基　　金：supported by grants from the National Natural Science Foundation of China (No.81971440) the Beijing Natural Science Foundation (No.7212129) 

主　　题：cystic fibrosis transmembrane conductance regulator nonobstructive azoospermia potential risk genes spermatogenesis whole-exome sequencing 

摘      要：Nonobstructive azoospermia(NOA)is a severe condition in infertile men,and increasing numbers of causative genes have been identified during the last few *** certain causative genes can explain the presence of NOA in some patients,a proportion of NOA patients remain to be *** study aimed to investigate potential high-risk genes associated with spermatogenesis in idiopathic NOA patients by whole-exome ***-exome sequencing was performed in 46 male patients diagnosed with ***,screening was performed for 119 genes known to be related to male ***,further screening was performed to determine potential high-risk causative genes for NOA by comparisons with 68 healthy male ***,risk genes with high/specific expression in the testes were selected and their expression fluctuations during spermatogenesis were *** frequency of cystic fibrosis transmembrane conductance regulator(CFTR)gene pathogenic variant carriers was higher in the NOA patients compared with the healthy *** risk genes that may be causes of NOA were identified,including seven genes that were highly/specifically expressed in the *** risk genes previously reported to be involved in spermatogenesis(MutS homolog 5[MSH5],cilia-and flagella-associated protein 54[CFAP54],MAP7 domain containing 3[MAP7D3],and coiled-coil domain containing 33[CCDC33])and three novel risk genes(coiled-coil domain containing 168[CCDC168],chromosome 16 open reading frame 96[C16orf96],and serine protease 48[PRSS48])were identified to be highly or specifically expressed in the testes and significantly different in the 46 NOA patients compared with 68 healthy *** study on clinical NOA patients provides further evidence for the four previously reported risk *** present findings pave the way for further functional investigations and provide candidate risk genes for genetic diagnosis of NOA.