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ID 115234
Author
Kiguchi, Misaki Tokushima University
Kogusuri, Suzu Tokushima University
Fujii, Aki Tokushima University
Sato, Takehiro Kanazawa University
Nozawa, Shiari St. Marianna University School of Medicine
Yoshiike, Miki St. Marianna University School of Medicine
Mieno, Makiko Jichi Medical University
Kojo, Kosuke International University of Health and Welfare|University of Tsukuba
Uchida, Masahiro International University of Health and Welfare|Tsukuba Gakuen Hospital
Tsuchiya, Haruki International University of Health and Welfare
Yamasaki, Kazumitu International University of Health and Welfare|Tsukuba Gakuen Hospital
Iwamoto, Teruaki St. Marianna University School of Medicine|International University of Health and Welfare|Sanno Hospital
Content Type
Journal Article
Description
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 × 10-6 in the discovery stage, we identified ten regions with SNPs (semen volume: one, sperm concentration: three, testes size: two, and inhibin B: four). We selected only the most significant SNP in each region for replication genotyping. Combined discovery and replication results in the meta-analysis showed that the locus 12q21.31 associated with plasma inhibin B levels (rs11116724) had the most significant association (P = 5.7 × 10-8). The LRRIQ1 and TSPAN19 genes are located in the 12q21.31 region. This study provides new susceptibility variants that contribute to plasma inhibin B levels.
Journal Title
Journal of Human Genetics
ISSN
14345161
1435232X
NCID
AA11206160
Publisher
Springer Nature
Volume
65
Issue
8
Start Page
683
End Page
691
Published Date
2020-04-27
EDB ID
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Author
departments
Pharmaceutical Sciences
Medical Sciences