Abstract
In men, follicle-stimulating hormone (FSH) acts on the seminiferous tubules and enhances spermatogenesis. Recently, a candidate locus (rs2414095) for FSH levels was identified by a genome-wide association study (GWAS) in Chinese men. The rs2414095 single-nucleotide polymorphism (SNP) is found on the third intron of the cytochrome P450, family 19, subfamily A, peptide 1 (CYP19A1) gene encoding an aromatase. In the present study, we performed a replication study in 1687 Japanese men (901 from cohort 1 and 786 from cohort 2) to assess whether this SNP is associated with circulating FSH levels. Furthermore, we investigated whether the rs2414095 SNP is correlated with semen quality traits in 2015 Japanese men (1224 from cohort 1 and 791 from cohort 2). The rs2414095 SNP was significantly associated with circulating FSH levels (βSTD=0.15, P=9.7 × 10-5), sperm concentration (βSTD=0.073, P=0.032) and total sperm number (TSN) (βSTD=0.074, P=0.027) in a combined analysis of the two Japanese male cohorts. We successfully replicated, in Japanese men, the results of the previous GWAS for the rs2414095 SNP in Chinese men, and found that the rs2414095 SNP was related with sperm production.
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Acknowledgements
We thank all the volunteers who participated in this study. We are grateful to the late Professor Yutaka Nakahori for collecting blood samples from the participants. We also thank Professor Toyomasa Katagiri for his assistance with the AB GeneAmp PCR system 9700. This study was supported in part by the Ministry of Health and Welfare of Japan (1013201) (to TI), Grant-in-Aids for Scientific Research (C) (26462461) (to YS) and (23510242) (to ATa), Grant-in-Aids for Scientific Research (B) (15H04320) (to ATa) from the Japan Society for the Promotion of Science, the European Union (BMH4-CT96-0314) (to TI), the Takeda Science Foundation (to ATa) and a research program for the development of intelligent Tokushima artificial Exosome (iTEX) from Tokushima University.
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Sato, Y., Tajima, A., Katsurayama, M. et al. A replication study of a candidate locus for follicle-stimulating hormone levels and association analysis for semen quality traits in Japanese men. J Hum Genet 61, 911–915 (2016). https://doi.org/10.1038/jhg.2016.82
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DOI: https://doi.org/10.1038/jhg.2016.82
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