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ID 114939
Sakai, Kensuke University of Tokyo|Keio University
Tanikawa, Chizu University of Tokyo
Hirasawa, Akira Keio University|Okayama University
Chiyoda, Tatsuyuki Keio University
Yamagami, Wataru Keio University
Kataoka, Fumio Keio University
Susumu, Nobuyuki International University of Health and Welfare
Terao, Chikashi RIKEN Center for Integrative Medical Sciences
Kamatani, Yoichiro RIKEN Center for Integrative Medical Sciences
Takahashi, Atsushi RIKEN Center for Integrative Medical Sciences|National Cerebral and Cardiovascular Center
Momozawa, Yukihide RIKEN Center for Integrative Medical Sciences
Hirata, Makoto University of Tokyo
Kubo, Michiaki RIKEN Center for Integrative Medical Sciences
Fuse, Nobuo Tohoku University
Takai-Igarashi, Takako Tohoku University
Shimizu, Atsushi Iwate Medical University
Fukushima, Akimune Iwate Medical University
Kadota, Aya Shiga University of Medical Science
Ikezaki, Hiroaki Kyushu University
Wakai, Kenji Nagoya University
Yamaji, Taiki National Cancer Center
Sawada, Norie National Cancer Center
Iwasaki, Motoki National Cancer Center
Tsugane, Shoichiro National Cancer Center
Aoki, Daisuke Keio University
Matsuda, Koichi University of Tokyo
Content Type
Journal Article
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.
Journal Title
Scientific Reports
Springer Nature
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Medical Sciences