A replication study of a candidate locus for follicle-stimulating hormone levels and association analysis for semen quality traits in Japanese men

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...

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Bibliographic Details
Published in:Journal of human genetics 2016-11, Vol.61 (11), p.911-915
Main Authors: Sato, Youichi, Tajima, Atsushi, Katsurayama, Motoki, Nozawa, Shiari, Yoshiike, Miki, Koh, Eitetsue, Kanaya, Jiro, Namiki, Mikio, Matsumiya, Kiyomi, Tsujimura, Akira, Komatsu, Kiyoshi, Itoh, Naoki, Eguchi, Jiro, Imoto, Issei, Yamauchi, Aiko, Iwamoto, Teruaki
Format: Article
Language:English
Subjects:
Adult
Alleles
Cohort Studies
Follicle Stimulating Hormone - blood
Genetic Association Studies
Genotype
Gonadal Steroid Hormones - blood
Humans
Japan
Male
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Quantitative Trait, Heritable
Semen Analysis
Sperm Count
Sperm Motility
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Summary: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 (β =0.15, P=9.7 × 10 ), sperm concentration (β =0.073, P=0.032) and total sperm number (TSN) (β =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.
ISSN:1434-5161
1435-232X
DOI:10.1038/jhg.2016.82