Genome-wide association study of semen volume, sperm concentration, testis size, and plasma inhibin B levels

Autor: Youichi, Sato, Atsushi, Tajima, Misaki, Kiguchi, Suzu, Kogusuri, Aki, Fujii, Takehiro, Sato, Shiari, Nozawa, Miki, Yoshiike, Makiko, Mieno, Kosuke, Kojo, Masahiro, Uchida, Haruki, Tsuchiya, Kazumitu, Yamasaki, Issei, Imoto, Teruaki, Iwamoto
Rok vydání: 2019
Předmět:
Zdroj: Journal of human genetics. 65(8)
ISSN: 1435-232X
Popis: Semen quality is affected by environmental factors, endocrine function abnormalities, and genetic factors. A GWAS recently identified ERBB4 at 2q34 as a genetic locus associated with sperm motility. However, GWASs for human semen volume and sperm concentration have not been conducted. In addition, testis size also reportedly correlates with semen quality, and it is important to identify genes that affect testis size. Reproductive hormones also play an important role in spermatogenesis. To date, genetic loci associated with plasma testosterone, sex hormone-binding globulin (SHBG), follicle-stimulating hormone (FSH), and luteinizing hormone (LH) levels have been identified using GWASs. However, GWASs have not identified any relevant loci for plasma inhibin B levels. We conducted a two-stage GWAS using 811 Japanese men in a discovery stage followed by a replication stage using an additional 721 Japanese men. The results of the discovery and replication stages were combined into a meta-analysis. After setting a suggestive significance threshold for P values 5 × 10
Databáze: OpenAIRE