Association of estrogen receptor alpha gene polymorphisms with endometriosis

Aim To determine whether the polymorphisms of estrogen receptor alpha(ERα) is associated with endometriosis in a Chinese population.Method 107 women diagnosed with endometriosis by laparotomy or laparoscopy were taken as study group,and 80 women who had health examination to eliminate the gynecological disease were taken as control group.We extracted the DNA,then used PCR-RFLP to examine the XbaⅠand PvuⅡ gene polymorphism in ERαgene.Results We found a statistically significant difference between the patients and the controls in the frequency of the XbaⅠ polymorphism(P=0.039).XX/Xx in patients 51(47.66%),in controls 25(31.25%),they had significant difference(P=0.024).The odds ratio(OR) for X allele was 2.00 times(OR=2.00,95% CI:1.09~3.67).But the gene polymorphism of PvuⅡdid not have the statistically significant difference between the endometriosis group and control group(P=0.285).We concluded that variability of the ERα-XbaⅠgene likely contributed to the pathogenesis of endometriosis.Conclusion The frequency of XbaⅠ polymorphism has the statistically significant difference between the patients and the controls,and X allele is possibly the predisposing gene in the development of EM.