Many studies have shown that a polymorphism (G870A) in cyclin D1 (CCND1) is associated with carcinogenesis in a variety of cancers. Our aim was to determine if an association exists between the CCND1 G870A polymorphism and uterine leiomyoma in Korean women.

Blood samples of 331 cases and 204 controls aged 47.4 ± 7.6 and 46.8 ± 10.4 years (mean ± SD), respectively, were collected. CCND1 genotyping was determined by PCR and restriction fragment length polymorphism.

Allelic frequencies of cases (A, 0.53; G, 0.47) were not significantly different from those of controls (A, 0.49; G, 0.51) (P = 0.22). After adjustment for menarche age and BMI, multivariate logistic regression analysis showed that the AA genotype was not associated with increased risk for uterine leiomyoma [odds ratio (OR) = 1.38, 95% confidence interval (CI); 0.85–2.26, P = 0.19]. However, in stratification analysis of cases and controls with BMI >25 kg/m², allelic frequencies of cases (A, 0.56; G, 0.44) were significantly different from controls (A, 0.36; G, 0.64) (P = 0.005), and the AA genotype was associated with increased risk for uterine leiomyoma (OR = 3.61, 95% CI; 1.02–12.73, P = 0.046). Furthermore, the OR for AA compared with combined GG and AG genotypes was 3.16 (95% CI 1.01–9.92, P = 0.048).

The A allele and AA genotype of CCND1 G870A polymorphism have a significant association with an increased risk of the uterine leiomyoma in obese Korean women.