A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia

Han Zhao; Jianfeng Xu; Haobo Zhang; Jielin Sun; Yingpu Sun; Zhong Wang; Jiayin Liu; Qiang Ding; Shaoming Lu; Rong Shi; Li You; Yingying Qin; Xiaoming Zhao; Xiaoling Lin; Xiao Li; Junjie Feng; Li Wang; Jeffrey M. Trent; Chengyan Xu; Ying Gao; Bo Zhang; Xuan Gao; Jingmei Hu; Hong Chen; Guangyu Li; Junzhao Zhao; Shuhua Zou; Hong Jiang; Cuifang Hao; Yueran Zhao; Jinglong Ma; S. Lilly Zheng; Zi Jiang Chen

doi:10.1016/j.ajhg.2012.04.001

A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia

Han Zhao, Jianfeng Xu, Haobo Zhang, Jielin Sun, Yingpu Sun, Zhong Wang, Jiayin Liu, Qiang Ding, Shaoming Lu, Rong Shi, Li You, Yingying Qin, Xiaoming Zhao, Xiaoling Lin, Xiao Li, Junjie Feng, Li Wang, Jeffrey M. Trent, Chengyan Xu, Ying GaoBo Zhang, Xuan Gao, Jingmei Hu, Hong Chen, Guangyu Li, Junzhao Zhao, Shuhua Zou, Hong Jiang, Cuifang Hao, Yueran Zhao, Jinglong Ma, S. Lilly Zheng, Zi Jiang Chen

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Abstract

A genome-wide association study of Han Chinese subjects was conducted to identify genetic susceptibility loci for nonobstructive azoospermia (NOA). In the discovery stage, 802 azoospermia cases and 1,863 controls were screened for genetic variants in the genome. Promising SNPs were subsequently confirmed in two independent sets of subjects: 818 azoospermia cases and 1,755 controls from northern China, and 606 azoospermia cases and 958 controls from central and southern China. We detected variants at human leukocyte antigen (HLA) regions that were independently associated with NOA (HLA-DRA, rs3129878, p _combine = 3.70 × 10^-16, odds ratio [OR] = 1.37; C6orf10 and BTNL2, rs498422, p_combine = 2.43 × 10 ^-12, OR = 1.42). These findings provide additional insight into the pathogenesis of NOA.

Original language	English (US)
Pages (from-to)	900-906
Number of pages	7
Journal	American journal of human genetics
Volume	90
Issue number	5
DOIs	https://doi.org/10.1016/j.ajhg.2012.04.001
State	Published - May 4 2012
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Zhao, H., Xu, J., Zhang, H., Sun, J., Sun, Y., Wang, Z., Liu, J., Ding, Q., Lu, S., Shi, R., You, L., Qin, Y., Zhao, X., Lin, X., Li, X., Feng, J., Wang, L., Trent, J. M., Xu, C., ... Chen, Z. J. (2012). A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia. American journal of human genetics, 90(5), 900-906. https://doi.org/10.1016/j.ajhg.2012.04.001

Zhao, H, Xu, J, Zhang, H, Sun, J, Sun, Y, Wang, Z, Liu, J, Ding, Q, Lu, S, Shi, R, You, L, Qin, Y, Zhao, X, Lin, X, Li, X, Feng, J, Wang, L, Trent, JM, Xu, C, Gao, Y, Zhang, B, Gao, X, Hu, J, Chen, H, Li, G, Zhao, J, Zou, S, Jiang, H, Hao, C, Zhao, Y, Ma, J, Zheng, SL & Chen, ZJ 2012, 'A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia', American journal of human genetics, vol. 90, no. 5, pp. 900-906. https://doi.org/10.1016/j.ajhg.2012.04.001

@article{2f6e57c1d92e4c45945025288951f578,

title = "A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia",

abstract = "A genome-wide association study of Han Chinese subjects was conducted to identify genetic susceptibility loci for nonobstructive azoospermia (NOA). In the discovery stage, 802 azoospermia cases and 1,863 controls were screened for genetic variants in the genome. Promising SNPs were subsequently confirmed in two independent sets of subjects: 818 azoospermia cases and 1,755 controls from northern China, and 606 azoospermia cases and 958 controls from central and southern China. We detected variants at human leukocyte antigen (HLA) regions that were independently associated with NOA (HLA-DRA, rs3129878, p combine = 3.70 × 10-16, odds ratio [OR] = 1.37; C6orf10 and BTNL2, rs498422, pcombine = 2.43 × 10 -12, OR = 1.42). These findings provide additional insight into the pathogenesis of NOA.",

author = "Han Zhao and Jianfeng Xu and Haobo Zhang and Jielin Sun and Yingpu Sun and Zhong Wang and Jiayin Liu and Qiang Ding and Shaoming Lu and Rong Shi and Li You and Yingying Qin and Xiaoming Zhao and Xiaoling Lin and Xiao Li and Junjie Feng and Li Wang and Trent, {Jeffrey M.} and Chengyan Xu and Ying Gao and Bo Zhang and Xuan Gao and Jingmei Hu and Hong Chen and Guangyu Li and Junzhao Zhao and Shuhua Zou and Hong Jiang and Cuifang Hao and Yueran Zhao and Jinglong Ma and Zheng, {S. Lilly} and Chen, {Zi Jiang}",

note = "Funding Information: We thank Di Wu, Changming Zhang, Yongzhi Cao, Gang Ma, Chongfu Zhong, Jiaolong Liu and Yanhong Xiao from Shandong University for sample collection and categorization; Qingzhi Hao and Pingshuai Jiang for data organization. This study was supported by grants from the National Basic Research Program of China (973 Program) (2012CB944700), the National Natural Science Foundation of China (30973170, 81000238, 81000236), the National Key Technology Research and Development Program (2011BAI17B00), the Science Research Foundation Item of No-earnings Health Vocation (201002013), and an intramural grant from Huashan Hospital. We thank all participants involved in this study. All authors critically reviewed the article and approved the final manuscript. ",

year = "2012",

month = may,

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doi = "10.1016/j.ajhg.2012.04.001",

language = "English (US)",

volume = "90",

pages = "900--906",

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T1 - A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia

AU - Zhao, Han

AU - Xu, Jianfeng

AU - Zhang, Haobo

AU - Sun, Jielin

AU - Sun, Yingpu

AU - Wang, Zhong

AU - Liu, Jiayin

AU - Ding, Qiang

AU - Lu, Shaoming

AU - Shi, Rong

AU - You, Li

AU - Qin, Yingying

AU - Zhao, Xiaoming

AU - Lin, Xiaoling

AU - Li, Xiao

AU - Feng, Junjie

AU - Wang, Li

AU - Trent, Jeffrey M.

AU - Xu, Chengyan

AU - Gao, Ying

AU - Zhang, Bo

AU - Gao, Xuan

AU - Hu, Jingmei

AU - Chen, Hong

AU - Li, Guangyu

AU - Zhao, Junzhao

AU - Zou, Shuhua

AU - Jiang, Hong

AU - Hao, Cuifang

AU - Zhao, Yueran

AU - Ma, Jinglong

AU - Zheng, S. Lilly

AU - Chen, Zi Jiang

N1 - Funding Information: We thank Di Wu, Changming Zhang, Yongzhi Cao, Gang Ma, Chongfu Zhong, Jiaolong Liu and Yanhong Xiao from Shandong University for sample collection and categorization; Qingzhi Hao and Pingshuai Jiang for data organization. This study was supported by grants from the National Basic Research Program of China (973 Program) (2012CB944700), the National Natural Science Foundation of China (30973170, 81000238, 81000236), the National Key Technology Research and Development Program (2011BAI17B00), the Science Research Foundation Item of No-earnings Health Vocation (201002013), and an intramural grant from Huashan Hospital. We thank all participants involved in this study. All authors critically reviewed the article and approved the final manuscript.

PY - 2012/5/4

Y1 - 2012/5/4

N2 - A genome-wide association study of Han Chinese subjects was conducted to identify genetic susceptibility loci for nonobstructive azoospermia (NOA). In the discovery stage, 802 azoospermia cases and 1,863 controls were screened for genetic variants in the genome. Promising SNPs were subsequently confirmed in two independent sets of subjects: 818 azoospermia cases and 1,755 controls from northern China, and 606 azoospermia cases and 958 controls from central and southern China. We detected variants at human leukocyte antigen (HLA) regions that were independently associated with NOA (HLA-DRA, rs3129878, p combine = 3.70 × 10-16, odds ratio [OR] = 1.37; C6orf10 and BTNL2, rs498422, pcombine = 2.43 × 10 -12, OR = 1.42). These findings provide additional insight into the pathogenesis of NOA.

AB - A genome-wide association study of Han Chinese subjects was conducted to identify genetic susceptibility loci for nonobstructive azoospermia (NOA). In the discovery stage, 802 azoospermia cases and 1,863 controls were screened for genetic variants in the genome. Promising SNPs were subsequently confirmed in two independent sets of subjects: 818 azoospermia cases and 1,755 controls from northern China, and 606 azoospermia cases and 958 controls from central and southern China. We detected variants at human leukocyte antigen (HLA) regions that were independently associated with NOA (HLA-DRA, rs3129878, p combine = 3.70 × 10-16, odds ratio [OR] = 1.37; C6orf10 and BTNL2, rs498422, pcombine = 2.43 × 10 -12, OR = 1.42). These findings provide additional insight into the pathogenesis of NOA.

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EP - 906

JO - American journal of human genetics

JF - American journal of human genetics

IS - 5

ER -

A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia

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