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Identify disease-specific risk variants and determine shared genetic architecture across five major gynecologic diseases.

September 5, 2019European Journal of Human GeneticsOpen Access

GWAS of five gynecologic diseases and cross-trait analysis in Japanese

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Authors

TMTatsuo MasudaOsaka Gakuin University SLSiew‐Kee LowRIKEN Center for Integrative Medical Sciences MAMasato AkiyamaKyushu University

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Implication

Genome-wide association study uncovers novel risk loci and shared genetic architecture across gynecologic diseases in Japanese females, indicating common biological pathways behind these conditions.

Key Points

Identify disease-specific risk variants and determine shared genetic architecture across five major gynecologic diseases.
Analyzed genetic data from 46,837 Japanese females (5,236 uterine fibroid, 645 endometriosis, 647 ovarian cancer, 909 uterine endometrial cancer, and 538 cervical cancer cases, with 39,556 controls) from Biobank Japan.
Imputed 7,645,193 variants using a population-specific panel (n = 3,541) and performed association tests using logistic models, linear mixed models, reverse regression, and random-effects meta-analyses.
Identified four novel disease-specific associations, including loci near LINC02183 (P = 3.3 × 10⁻⁸) and BRCA1 (P = 3.1 × 10⁻⁸) for ovarian cancer, and INS-IGF2 (P = 4.9 × 10⁻⁸) and SOX9 (P = 3.3 × 10⁻⁸) for cervical cancer.
Identified one novel shared locus at LOC730100 (P = 2.0 × 10⁻⁸) and three additional novel loci through reverse regression (GABBR2, SH3GL3/BNC1, and LOC107985484; all P < 5.0 × 10⁻⁸).
Observed strong genetic correlations among ovarian cancer, endometrial cancer, endometriosis, and uterine fibroids (rg > 0.79), whereas cervical cancer showed weak genetic correlation with the other four conditions (rg = -0.08 to 0.25).

Cite This Study

Masuda et al. (2019) studied this question.

synapsesocial.com/papers/6a6fe0cc439bab0cabc2ef7d https://doi.org/10.1038/s41431-019-0495-1

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Implication

Genome-wide association study uncovers novel risk loci and shared genetic architecture across gynecologic diseases in Japanese females, indicating common biological pathways behind these conditions.

GWAS of five gynecologic diseases and cross-trait analysis in Japanese

Discussion

Member takes

Implication

Key Points

Cite This Study

GWAS of five gynecologic diseases and cross-trait analysis in Japanese

Discussion

Member takes

Implication

Key Points

Cite This Study

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