Objective: To investigate whether interleukin-1 beta (IL-1beta ) and interleukin-1 receptor antagonist (IL-1RA) gene polymorphisms are associated with endometriosis (EMs) in Chinese women.
Methods: One hundred and thirty-eight patients with EMs and 100 women without EMs were enrolled in the study. Polymorphisms for IL-1 beta-511 promoter, IL-1 beta exon 5, and IL-1RA were detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).
Result: There were no significant differences about the distribution of the genotypes and alleles of IL-1 beta -511 promoter and IL-1 beta exon 5 in two groups (P > 0.05). The frequencies of A1/A1, A1/A2, A1/A4 and A2/A2 of IL-1RA gene were 84.1 %, 12.3 %, 2.9 % and 0.7 % in EMs and 95 % , 4 % ,1 % and 0 % in controls, respectively (P=0.042). The A1, A2 and A4 alleles were 91.7 % , 6.9 % and 1.4 % in EMs and 97.5 % , 2 % and 0.5 % in controls (P=0.019). In comparison with the reference genotype, the wild A1/A1 homozygote, the odds ratio for A1/A2 was 3.48 (95 % CI: 1.13 - 10.69). Compared with the A1 allele, the odds ratio for the A2 allele was 3.66 (95 % CI: 1.23 - 10.94).
Conclusion: Association between the IL-1 beta-511 promoter,IL-1 beta exon 5 polymorphisms and EMs in China is not found. However, the A2 allele of IL-1RA gene may be one of the risk factors for the Chinese women in Zhejiang Province to suffer EMs.