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Sci Rep. 2020 Jan 27;10(1):1197. doi: 10.1038/s41598-020-58066-8.

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

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Laboratory of Genome Technology, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
Keio University School of Medicine, Department of Obstetrics and Gynecology, Tokyo, Japan.
Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan.
International University of Health and Welfare School of Medicine, Department of Obstetrics and Gynecology, Chiba, Japan.
RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan.
Department of Genomic Medicine, Research Institute, National Cerebral and Cardiovascular Center, Osaka, Japan.
Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Iwate Tohoku Medical Megabank Organization, Iwate Medical University, Iwate, Japan.
Department of Health Science, Shiga University of Medical Science, Shiga, Japan.
Department of Preventive Medicine, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
Department of General Internal Medicine, Kyushu University Hospital, Fukuoka, Japan.
Department of Preventive Medicine, Nagoya University Graduate School of Medicine, Aichi, Japan.
Division of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan.
Center for Public Health Sciences, National Cancer Center, Tokyo, Japan.
Laboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, University of Tokyo, Tokyo, Japan.


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.

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