title: A replication study of a candidate locus for follicle-stimulating hormone levels and association analysis for semen quality traits in Japanese men.
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.
authors.affiliation: Department of Pharmaceutical Information Science, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Youichi
authors.initials: Y
authors.lastname: Sato
authors.affiliation: Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.|Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, Kanazawa, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Tajima
authors.affiliation: Department of Pharmaceutical Information Science, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Motoki
authors.initials: M
authors.lastname: Katsurayama
authors.affiliation: Department of Urology, St Marianna University School of Medicine, Kawasaki, Japan.
authors.forename: Shiari
authors.initials: S
authors.lastname: Nozawa
authors.affiliation: Department of Urology, St Marianna University School of Medicine, Kawasaki, Japan.
authors.forename: Miki
authors.initials: M
authors.lastname: Yoshiike
authors.affiliation: Department of Urology, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
authors.forename: Eitetsue
authors.initials: E
authors.lastname: Koh
authors.affiliation: Department of Urology, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
authors.forename: Jiro
authors.initials: J
authors.lastname: Kanaya
authors.affiliation: Department of Urology, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
authors.forename: Mikio
authors.initials: M
authors.lastname: Namiki
authors.affiliation: Department of Urology, Suita Tokushukai Hospital, Osaka, Japan.
authors.forename: Kiyomi
authors.initials: K
authors.lastname: Matsumiya
authors.affiliation: Department of Urology, Graduate School of Medicine, Faculty of Medicine, Osaka University, Osaka, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Tsujimura
authors.affiliation: Department of Urology, Harasanshinkai Hospital, Fukuoka, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Komatsu
authors.affiliation: Department of Urology, Sapporo Medical University, Sapporo, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Itoh
authors.affiliation: Department of Urology, Nagasaki University, Nagasaki, Japan.
authors.forename: Jiro
authors.initials: J
authors.lastname: Eguchi
authors.affiliation: Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto
authors.affiliation: Department of Pharmaceutical Information Science, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Aiko
authors.initials: A
authors.lastname: Yamauchi
authors.affiliation: Department of Urology, St Marianna University School of Medicine, Kawasaki, Japan.|Center for Infertility and IVF, International University of Health and Welfare Hospital, Nasushiobara, Japan.
authors.forename: Teruaki
authors.initials: T
authors.lastname: Iwamoto
mesh_terms: D000328:Adult; D000483:Alleles; D015331:Cohort Studies; D005640:Follicle Stimulating Hormone / Q000097:blood*; D056726:Genetic Association Studies; D005838:Genotype; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D007564:Japan; D008297:Male; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D019655:Quantitative Trait, Heritable; D055101:Semen Analysis; D013076:Sperm Count; D013081:Sperm Motility
chemical_list: D012739:Gonadal Steroid Hormones; D005640:Follicle Stimulating Hormone