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A replication study of a candidate locus for follicle-stimulating hormone levels and association analysis for semen quality traits in Japanese men Candidate polymorphism associated with FSH levels 10363160 佐藤, 陽一 サトウ, ヨウイチ Sato, Youichi 佐藤 サトウ Sato 陽一 ヨウイチ Youichi 田嶋, 敦 タジマ, アツシ Tajima, Atsushi カツラヤマ, モトキ カツラヤマ, モトキ Katsurayama, Motoki ノザワ, シアリ ノザワ, シアリ Nozawa, Shiari ヨシイケ, ミキ ヨシイケ, ミキ Yoshiike, Miki Koh, Eitetsue カナヤ, ジロウ カナヤ, ジロウ Kanaya, Jiro ナミキ, ミキオ ナミキ, ミキオ Namiki, Mikio マツミヤ, キヨミ マツミヤ, キヨミ Matsumiya, Kiyomi ツジムラ, アキラ ツジムラ, アキラ Tsujimura, Akira コマツ, キヨシ コマツ, キヨシ Komatsu, Kiyoshi イトウ, ナオキ イトウ, ナオキ Itoh, Naoki エグチ, ジロウ エグチ, ジロウ Eguchi, Jiro 30258610 井本, 逸勢 イモト, イッセイ Imoto, Issei 井本 イモト Imoto 逸勢 イッセイ Issei 30122253 山内, あい子 ヤマウチ, アイコ Yamauchi, Aiko 山内 ヤマウチ Yamauchi あい子 アイコ Aiko イワモト, テルアキ イワモト, テルアキ Iwamoto, Teruaki open access © 2016 The Japan Society of Human Genetics 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 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 single nucleotide polymorphism (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. 2016-11 eng journal article AM 313471 https://tokushima-u.repo.nii.ac.jp/records/2003225 https://doi.org/10.1038/jhg.2016.82 10.1038/jhg.2016.82 14345161 AA11206160 Journal of Human Genetics 61 11 911 915 https://tokushima-u.repo.nii.ac.jp/record/2003225/files/LID201701242001.pdf application/pdf 104 KB 2017-01-25 https://tokushima-u.repo.nii.ac.jp/record/2003225/files/LID201701242002.pdf application/pdf 29.2 KB 2017-01-25 https://tokushima-u.repo.nii.ac.jp/record/2003225/files/LID201701242003.pdf application/pdf 31 KB 2017-01-25 https://tokushima-u.repo.nii.ac.jp/record/2003225/files/LID201701242004.pdf application/pdf 29.1 KB 2017-01-25