Identification of a novel uterine leiomyoma GWAS locus in a Japanese population

Kensuke Sakai, Chizu Tanikawa, Akira Hirasawa, Tatsuyuki Chiyoda, Wataru Yamagami, Fumio Kataoka, Nobuyuki Susumu, Chikashi Terao, Yoichiro Kamatani, Atsushi Takahashi, Yukihide Momozawa, Makoto Hirata, Michiaki Kubo, Nobuo Fuse, Takako Takai-Igarashi, Atsushi Shimizu, Akimune Fukushima, Aya Kadota, Kokichi Arisawa, Hiroaki IkezakiKenji Wakai, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Shoichiro Tsugane, Daisuke Aoki, Koichi Matsuda

研究成果: Article

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Uterine leiomyoma is one of the most common gynaecologic benign tumours, but its genetic basis remains largely unknown. Six previous GWAS identified 33 genetic factors in total. Here, we performed a two-staged GWAS using 13,746 cases and 70,316 controls from the Japanese population, followed by a replication analysis using 3,483 cases and 4,795 controls. The analysis identified 9 significant loci, including a novel locus on 12q23.2 (rs17033114, P = 6.12 × 10−25 with an OR of 1.177 (1.141-1.213), LINC00485). Subgroup analysis indicated that 5 loci (3q26.2, 5p15.33, 10q24.33, 11p15.5, 13q14.11) exhibited a statistically significant effect among multiple leiomyomas, and 2 loci (3q26.2, 10q24.33) exhibited a significant effect among submucous leiomyomas. Pleiotropic analysis indicated that all 9 loci were associated with at least one proliferative disease, suggesting the role of these loci in the common neoplastic pathway. Furthermore, the risk T allele of rs2251795 (3q26.2) was associated with longer telomere length in both normal and tumour tissues. Our findings elucidated the significance of genetic factors in the pathogenesis of leiomyoma.

元の言語English
記事番号1197
ジャーナルScientific reports
10
発行部数1
DOI
出版物ステータスPublished - 2020 12 1

ASJC Scopus subject areas

  • General

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    Sakai, K., Tanikawa, C., Hirasawa, A., Chiyoda, T., Yamagami, W., Kataoka, F., Susumu, N., Terao, C., Kamatani, Y., Takahashi, A., Momozawa, Y., Hirata, M., Kubo, M., Fuse, N., Takai-Igarashi, T., Shimizu, A., Fukushima, A., Kadota, A., Arisawa, K., ... Matsuda, K. (2020). Identification of a novel uterine leiomyoma GWAS locus in a Japanese population. Scientific reports, 10(1), [1197]. https://doi.org/10.1038/s41598-020-58066-8