Uterine fibroids are a common benign tumor of the female genital tract. We conducted a genome-wide association study in which 457,044 SNPs were analyzed in 1,607 individuals with clinically diagnosed uterine fibroids and 1,428 female controls. SNPs showing suggestive associations (P < 5 × 10 -5) were further genotyped in 3,466 additional cases and 3,245 female controls. Three loci on chromosomes 10+24.33, 22+13.1 and 11+15.5 revealed genome-wide significant associations with uterine fibroids. The SNPs showing the most significant association in a combination analysis at each of these loci were rs7913069 (P = 8.65 × 10 -14, odds ratio (OR) = 1.47), rs12484776 (P = 2.79 × 10 -12, OR = 1.23) and rs2280543 (P = 3.82 × 10 -12, OR = 1.39), respectively. Subsequent fine mapping of these regions will be necessary to pinpoint the causal variants. Our findings should shed light on the pathogenesis of uterine fibroids.
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