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

Abstract

To determine whether polymorphisms of the estrogen receptor alpha (ERalpha) and interleukin-10 (IL-10) genes are associated with endometriosis in a Chinese population. Association study. University hospital. Chinese women diagnosed with endometriosis by laparotomy or laparoscopy. Determination of polymorphisms of the ERalpha and IL-10 genes was performed by polymerase chain reaction and restriction fragment length polymorphism analysis in 214 affected women and 160 controls. Frequency and distribution of PvuII and XbaI polymorphisms of ERalpha and of BslI, SspI, and RsaI polymorphisms of IL-10. There was no significant difference between the endometriosis patients and the control groups in the genotype frequency of ERalpha-PvuII and promoter of IL-10 gene polymorphisms in the position of -1082. However, the frequency of ERalpha-XbaI 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 ERalpha-XbaI was associated with endometriosis. The X allele of ERalpha-XbaI and the -592 or -819 C allele of IL-10 are associated with endometriosis.