Association of estrogen receptor alpha and interleukin-10 gene polymorphisms with endometriosis in a Chinese population

Objective To determine whether polymorphisms of the estrogen receptor α (ERα) and interleukin-10 (IL-10) genes are associated with endometriosis in a Chinese population. Design Association study. Setting University hospital. Patient(s) Chinese women diagnosed with endometriosis by laparotomy or laparoscopy. Intervention(s) Determination of polymorphisms of the ERα and IL-10 genes was performed by polymerase chain reaction and restriction fragment length polymorphism analysis in 214 affected women and 160 controls. Main Outcome Measure(s) Frequency and distribution of Pvu II and Xba I polymorphisms of ERα and of Bs lI, Ssp I, and Rsa I polymorphisms of IL-10. Result(s) There was no significant difference between the endometriosis patients and the control groups in the genotype frequency of ERα- Pvu II and promoter of IL-10 gene polymorphisms in the position of -1082. However, the frequency of ERα- Xba I and -592 or -819C alleles of IL-10 in the endometriosis group was significantly higher than that of controls, and further analysis showed that the X allele of ERα- Xba I was associated with endometriosis. Conclusion(s) The X allele of ERα- Xba I and the -592 or -819 C allele of IL-10 are associated with endometriosis.