We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Identification of a novel uterine leiomyoma GWAS locus in a Japanese population.
- Authors
Sakai, Kensuke; Tanikawa, Chizu; Hirasawa, Akira; Chiyoda, Tatsuyuki; Yamagami, Wataru; Kataoka, Fumio; Susumu, Nobuyuki; Terao, Chikashi; Kamatani, Yoichiro; Takahashi, Atsushi; Momozawa, Yukihide; Hirata, Makoto; Kubo, Michiaki; Fuse, Nobuo; Takai-Igarashi, Takako; Shimizu, Atsushi; Fukushima, Akimune; Kadota, Aya; Arisawa, Kokichi; Ikezaki, Hiroaki
- Abstract
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.
- Subjects
UTERINE fibroids; DNA replication; SMOOTH muscle tumors; CARCINOGENESIS; NODULAR fasciitis
- Publication
Scientific Reports, 2020, Vol 10, Issue 1, p1
- ISSN
2045-2322
- Publication type
Article
- DOI
10.1038/s41598-020-58066-8