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Genome-wide association study of sex hormones, gonadotropins and sex hormone–binding protein in Chinese men
  1. Zhuo Chen1,
  2. Sha Tao1,
  3. Yong Gao2,3,
  4. Ju Zhang4,
  5. Yanling Hu2,5,
  6. Linjian Mo2,3,
  7. Seong-Tae Kim1,
  8. Xiaobo Yang2,6,
  9. Aihua Tan2,
  10. Haiying Zhang2,6,
  11. Xue Qin2,7,
  12. Li Li5,
  13. Yongming Wu2,3,
  14. Shijun Zhang2,
  15. S Lilly Zheng1,
  16. Jianfeng Xu1,2,8,9,
  17. Zengnan Mo2,3,
  18. Jielin Sun1
  1. 1Center for Cancer Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA
  2. 2Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, China
  3. 3Institute of Urology and Nephrology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China
  4. 4State Key Laboratory of Medicinal Chemical Biology and Department of Biochemistry and Molecular Biology, College of Life Sciences, Nankai University, Tianjin, China
  5. 5Medical Scientific Research Center, Guangxi Medical University, Nanning, Guangxi, China
  6. 6Department of Occupational Health and Environmental Health, School of Public Health, Guangxi Medical University, Nanning, Guangxi, China
  7. 7Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China
  8. 8Fudan-VARI Center for Genetic Epidemiology, School of Life Sciences, Fudan University, Shanghai, China
  9. 9Fudan University Institute of Urology, Huashan Hospital, Fudan University, Shanghai, China
  1. Correspondence to Dr Zengnan Mo, Institute of Urology and Nephrology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, China; zengnanmo{at}


Background Sex hormones and gonadotropins exert a wide variety of effects in physiological and pathological processes. Accumulated evidence shows a strong heritable component of circulating concentrations of these hormones. Recently, several genome-wide association studies (GWASs) conducted in Caucasians have identified multiple loci that influence serum levels of sex hormones. However, the genetic determinants remain unknown in Chinese populations. In this study, we aimed to identify genetic variants associated with major sex hormones, gonadotropins, including testosterone, oestradiol, follicle-stimulating hormone (FSH), luteinising hormone (LH) and sex hormone binding globulin (SHBG) in a Chinese population.

Methods A two-stage GWAS was conducted in a total of 3495 healthy Chinese men (1999 subjects in the GWAS discovery stage and 1496 in the confirmation stage).

Results We identified a novel genetic region at 15q21.2 (rs2414095 in CYP19A1), which was significantly associated with oestradiol and FSH in the Chinese population at a genome-wide significant level (p=6.54×10−31 and 1.59×10−16, respectively). Another single nucleotide polymorphism in CYP19A1 gene was significantly associated with oestradiol level (rs2445762, p=7.75×10−28). In addition, we confirmed the previous GWAS-identified locus at 17p13.1 for testosterone (rs2075230, p=1.13×10−8) and SHBG level (rs2075230, p=4.75×10−19) in the Chinese population.

Conclusions This study is the first GWAS investigation of genetic determinants of FSH and LH. The identification of novel susceptibility loci may provide more biological implications for the synthesis and metabolism of these hormones. More importantly, the confirmation of the genetic loci for testosterone and SHBG suggests common genetic components shared among different ethnicities.

  • GWAS
  • sex hormone
  • FSH
  • estradiol
  • CYP19A1

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