Genome-wide association studies for pelvic organ prolapse in the Japanese population

Pelvic organ prolapse (POP) affects approximately 40% of elderly women, characterized by the descent of the pelvic organs into the vaginal cavity. Here we present the results of a genome-wide association study (GWAS) for susceptibility to POP comprising 771 cases and 76,625 controls in the Japanese population. We identified a significant association of WT1 locus with POP in the Japanese population; rs10742277; odds ratio (OR) = 1.48, 95% confidence interval (CI), 1.29–1.68, P = 6.72 × 10−9. Subsequent cross-ancestry GWAS meta-analysis combining the Japanese data and previously reported European data, including 28,857 cases and 622,916 controls, identified FGFR2 locus as a novel susceptibility locus to POP (rs7072877; OR = 1.06, 95% CI, 1.04–1.08, P = 4.11 × 10−8). We also observed consistent directions of the effects for 21 out of 24 European GWAS derived loci (binomial test P = 2.8 × 10−4), indicating that most of susceptibility loci for POP are shared across the Japanese and European populations. The authors performed a GWAS for pelvic organ prolapse (POP) in Japanese women, and identified WT1 as a susceptibility locus for POP in Japanese women. Transethnic GWAS meta-analysis further identified FGFR2 as an additional susceptibility locus for POP.