| Item type |
文献 / Documents(1) |
| 公開日 |
2020-09-15 |
| アクセス権 |
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アクセス権 |
open access |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| 出版社版DOI |
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関連識別子 |
https://doi.org/10.1038/s10038-020-0757-3 |
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関連名称 |
10.1038/s10038-020-0757-3 |
| 出版タイプ |
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出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| タイトル |
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|
タイトル |
Genome-wide association study of semen volume, sperm concentration, testis size, and plasma inhibin B levels |
| 著者 |
佐藤, 陽一
田嶋, 敦
キグチ, ミサキ
コグスリ, スズ
フジイ, アキ
サトウ, タケヒロ
ノザワ, シアリ
ヨシイケ, ミキ
ミエノ, マキコ
コジョウ, コウスケ
ウチダ, マサヒロ
ツチヤ, ハルキ
ヤマサキ, カズミツ
井本, 逸勢
イワモト, テルアキ
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| 抄録 |
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内容記述 |
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. |
| 書誌情報 |
en : Journal of Human Genetics
巻 65,
号 8,
p. 683-691,
発行日 2020-04-27
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| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
14345161 |
| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
1435232X |
| 収録物ID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA11206160 |
| 出版者 |
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出版者 |
Springer Nature |
| EID |
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識別子 |
364507 |
| 言語 |
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言語 |
eng |
jhg_65_8_683.pdf (672 KB)
