Objective: To determine whether polymorphisms of the estrogen receptor alpha (ERalpha) 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 ERalpha 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 PvuII and XbaI polymorphisms of ERalpha and of BslI, SspI, and RsaI polymorphisms of IL-10.
Result(s): 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.
Conclusion(s): The X allele of ERalpha-XbaI and the -592 or -819 C allele of IL-10 are associated with endometriosis.