Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs
Abstract Traits related to primary and secondary sexual characteristics greatly impact females during puberty and day-to-day adult life. Therefore, we performed a GWAS analysis of 11,348 Japanese female volunteers and 22 gynecology-related phenotypic variables, and identified significant association...
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2018
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oai:doaj.org-article:d10006041d124978a8403f2f3a20618a2021-12-02T15:09:08ZJapanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs10.1038/s41598-018-25065-92045-2322https://doaj.org/article/d10006041d124978a8403f2f3a20618a2018-05-01T00:00:00Zhttps://doi.org/10.1038/s41598-018-25065-9https://doaj.org/toc/2045-2322Abstract Traits related to primary and secondary sexual characteristics greatly impact females during puberty and day-to-day adult life. Therefore, we performed a GWAS analysis of 11,348 Japanese female volunteers and 22 gynecology-related phenotypic variables, and identified significant associations for bust-size, menstrual pain (dysmenorrhea) severity, and menstrual fever. Bust-size analysis identified significant association signals in CCDC170-ESR1 (rs6557160; P = 1.7 × 10−16) and KCNU1-ZNF703 (rs146992477; P = 6.2 × 10−9) and found that one-third of known European-ancestry associations were also present in Japanese. eQTL data points to CCDC170 and ZNF703 as those signals’ functional targets. For menstrual fever, we identified a novel association in OPRM1 (rs17181171; P = 2.0 × 10−8), for which top variants were eQTLs in multiple tissues. A known dysmenorrhea signal near NGF replicated in our data (rs12030576; P = 1.1 × 10−19) and was associated with RP4-663N10.1 expression, a putative lncRNA enhancer of NGF, while a novel dysmenorrhea signal in the IL1 locus (rs80111889; P = 1.9 × 10−16) contained SNPs previously associated with endometriosis, and GWAS SNPs were most significantly associated with IL1A expression. By combining regional imputation with colocalization analysis of GWAS/eQTL signals along with integrated annotation with epigenomic data, this study further refines the sets of candidate causal variants and target genes for these known and novel gynecology-related trait loci.Tetsuya HirataKaori KogaTodd A. JohnsonRyoko MorinoKazuyuki NakazonoShigeo KamitsujiMasanori AkitaMaiko KawajiriAzusa KamiYuria HoshiAsami TadaKenichi IshikawaMaaya HineMiki KobayashiNami KurumeTomoyuki FujiiNaoyuki KamataniYutaka OsugaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 8, Iss 1, Pp 1-17 (2018) |
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DOAJ |
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DOAJ |
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Medicine R Science Q |
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Medicine R Science Q Tetsuya Hirata Kaori Koga Todd A. Johnson Ryoko Morino Kazuyuki Nakazono Shigeo Kamitsuji Masanori Akita Maiko Kawajiri Azusa Kami Yuria Hoshi Asami Tada Kenichi Ishikawa Maaya Hine Miki Kobayashi Nami Kurume Tomoyuki Fujii Naoyuki Kamatani Yutaka Osuga Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs |
| description |
Abstract Traits related to primary and secondary sexual characteristics greatly impact females during puberty and day-to-day adult life. Therefore, we performed a GWAS analysis of 11,348 Japanese female volunteers and 22 gynecology-related phenotypic variables, and identified significant associations for bust-size, menstrual pain (dysmenorrhea) severity, and menstrual fever. Bust-size analysis identified significant association signals in CCDC170-ESR1 (rs6557160; P = 1.7 × 10−16) and KCNU1-ZNF703 (rs146992477; P = 6.2 × 10−9) and found that one-third of known European-ancestry associations were also present in Japanese. eQTL data points to CCDC170 and ZNF703 as those signals’ functional targets. For menstrual fever, we identified a novel association in OPRM1 (rs17181171; P = 2.0 × 10−8), for which top variants were eQTLs in multiple tissues. A known dysmenorrhea signal near NGF replicated in our data (rs12030576; P = 1.1 × 10−19) and was associated with RP4-663N10.1 expression, a putative lncRNA enhancer of NGF, while a novel dysmenorrhea signal in the IL1 locus (rs80111889; P = 1.9 × 10−16) contained SNPs previously associated with endometriosis, and GWAS SNPs were most significantly associated with IL1A expression. By combining regional imputation with colocalization analysis of GWAS/eQTL signals along with integrated annotation with epigenomic data, this study further refines the sets of candidate causal variants and target genes for these known and novel gynecology-related trait loci. |
| format |
article |
| author |
Tetsuya Hirata Kaori Koga Todd A. Johnson Ryoko Morino Kazuyuki Nakazono Shigeo Kamitsuji Masanori Akita Maiko Kawajiri Azusa Kami Yuria Hoshi Asami Tada Kenichi Ishikawa Maaya Hine Miki Kobayashi Nami Kurume Tomoyuki Fujii Naoyuki Kamatani Yutaka Osuga |
| author_facet |
Tetsuya Hirata Kaori Koga Todd A. Johnson Ryoko Morino Kazuyuki Nakazono Shigeo Kamitsuji Masanori Akita Maiko Kawajiri Azusa Kami Yuria Hoshi Asami Tada Kenichi Ishikawa Maaya Hine Miki Kobayashi Nami Kurume Tomoyuki Fujii Naoyuki Kamatani Yutaka Osuga |
| author_sort |
Tetsuya Hirata |
| title |
Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs |
| title_short |
Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs |
| title_full |
Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs |
| title_fullStr |
Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs |
| title_full_unstemmed |
Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs |
| title_sort |
japanese gwas identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eqtls for relevant protein-coding or long non-coding rnas |
| publisher |
Nature Portfolio |
| publishDate |
2018 |
| url |
https://doaj.org/article/d10006041d124978a8403f2f3a20618a |
| work_keys_str_mv |
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