Problem To investigate whether polymorphisms in the interleukin-1β (IL-1β) gene are associated with uterine leiomyoma.
Method of study Case–control study in a collective of 131 patients and 280 controls. Genotyping of the IL-1β-511 and IL-1β-3954 polymorphism was performed by PCR amplification and subsequent RFLP analysis.
Results A significant difference in the allele frequencies of the IL-1β-511 C<T polymorphism was found. Allele frequencies of the IL-1β-511 C<T polymorphism were 70.6% (C allele) in the patient group and 57.1% in the control group [P < 0.0002; odds ratio (OR) 1.81; 95% confidence interval (CI): 1.32–2.47]. The genotype distributions showed also differences using a dominant genotype model (C/C vs. C/T+T/T; P < 0.0002; OR 2.73; 95% CI: 1.77–4.2). No difference was found in the IL-1β-3954 polymorphism.
Conclusion The IL-1β-511 promoter polymorphism is related to an increased susceptibility to uterine leiomyoma, suggesting that this polymorphism does contribute to the development of this disease.