Excess of rare variants in genes that are key epigenetic regulators of spermatogenesis in the patients with non-obstructive azoospermia

Li, Zesong, Huang, Yi, Li, Honggang, Hu, Jingchu, Liu, Xiao, Jiang, Tao, Sun, Guangqing, Tang, Aifa, Sun, Xiaojuan, Qian, Weiping, Zeng, Yong, Xie, Jun, Zhao, Wei, Xu, Yu, He, Tingting, Dong, Chengliang, Liu, Qunlong, Mou, Lisha, Lu, Jingxiao, Lin, Zheguang, Wu, Song, Gao, Shengjie, Guo, Guangwu, Feng, Qiang, Li, Yingrui, Zhang, Xiuqing, Wang, Jun, Yang, Huanming, Wang, Jian, Xiong, Chengliang, Cai, Zhiming and Gui, Yaoting (2015) Excess of rare variants in genes that are key epigenetic regulators of spermatogenesis in the patients with non-obstructive azoospermia. Scientific Reports, 5 8785: . doi:10.1038/srep08785


Author Li, Zesong
Huang, Yi
Li, Honggang
Hu, Jingchu
Liu, Xiao
Jiang, Tao
Sun, Guangqing
Tang, Aifa
Sun, Xiaojuan
Qian, Weiping
Zeng, Yong
Xie, Jun
Zhao, Wei
Xu, Yu
He, Tingting
Dong, Chengliang
Liu, Qunlong
Mou, Lisha
Lu, Jingxiao
Lin, Zheguang
Wu, Song
Gao, Shengjie
Guo, Guangwu
Feng, Qiang
Li, Yingrui
Zhang, Xiuqing
Wang, Jun
Yang, Huanming
Wang, Jian
Xiong, Chengliang
Cai, Zhiming
Gui, Yaoting
Title Excess of rare variants in genes that are key epigenetic regulators of spermatogenesis in the patients with non-obstructive azoospermia
Journal name Scientific Reports   Check publisher's open access policy
ISSN 2045-2322
Publication date 2015-03-05
Year available 2015
Sub-type Article (original research)
DOI 10.1038/srep08785
Open Access Status DOI
Volume 5
Issue 8785
Total pages 7
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2016
Language eng
Formatted abstract
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 and MTHFR). Our study suggested the potential associations of genetic defects in genes that are epigenetic regulators with spermatogenic failure in human.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
Institute for Molecular Bioscience - Publications
 
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