Article
Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.
Human molecular genetics - 1 Oct 2015
Ni Bixian, Lin Yuan, Sun Liangdan, Zhu Meng, Li Zheng, Wang Hui, Yu Jun, Guo Xuejiang, Zuo Xianbo, Dong Jing, Xia Yankai, Wen Yang, Wu Hao, Li Honggang, Zhu Yong, Ping Ping, Chen Xiangfeng, Dai Juncheng, Jiang Yue, Xu Peng, Du Qiang, Yao Bing, Weng Ning, Lu Hui, Wang Zhuqing, Zhu Xiaobin, Yang Xiaoyu, Xiong Chenliang, Ma Hongxia, Jin Guangfu, Xu Jianfeng, Wang Xinru, Zhou Zuomin, Liu Jiayin, Zhang Xuejun, Conrad Donald F, Hu Zhibin, Sha Jiahao
Abstract excerpt
Genome-wide association studies (GWAS) have identified several common loci contributing to non-obstructive azoospermia (NOA). However, a substantial fraction of NOA heritability remains undefined, especially those low-frequency [defined here as having a minor allele frequency (MAF) between 0.5 and 5%] and rare (MAF below 0.5%) variants. Here, we performed a 3-stage exome-wide association study in Han Chinese men...
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