作者
Zesong Li, Yi Huang, Honggang Li, Jingchu Hu, Xiao Liu, Tao Jiang, Guangqing Sun, Aifa Tang, Xiaojuan Sun, Weiping Qian, Yong Zeng, Jun Xie, Wei Zhao, Yu Xu, Tingting He, Chengliang Dong, Qunlong Liu, Lisha Mou, Jingxiao Lu, Zheguang Lin, Song Wu, Shengjie Gao, Guangwu Guo, Qiang Feng, Yingrui Li, Xiuqing Zhang, Jun Wang, Huanming Yang, Jian Wang, Chengliang Xiong, Zhiming Cai, Yaoting Gui
发表日期
2015/3/5
期刊
Scientific reports
卷号
5
期号
1
页码范围
8785
出版商
Nature Publishing Group UK
简介
Non-obstructive azoospermia (NOA), a severe form of male infertility, is often suspected to be linked to currently undefined genetic abnormalities. To explore the genetic basis of this condition, we successfully sequenced ~650 infertility-related genes in 757 NOA patients and 709 fertile males. We evaluated the contributions of rare variants to the etiology of NOA by identifying individual genes showing nominal associations and testing the genetic burden of a given biological process as a whole. We found a significant excess of rare, non-silent variants in genes that are key epigenetic regulators of spermatogenesis, such as BRWD1, DNMT1, DNMT3B, RNF17, UBR2, USP1 and USP26, in NOA patients (P = 5.5 × 10−7), corresponding to a carrier frequency of 22.5% of patients and 13.7% of controls (P = 1.4 × 10−5). An accumulation of low-frequency variants was also identified in additional epigenetic genes (BRDT …
学术搜索中的文章
Z Li, Y Huang, H Li, J Hu, X Liu, T Jiang, G Sun, A Tang… - Scientific reports, 2015