Intron 1 and exon 1 alpha estrogen receptor gene polymorphisms in women with endometriosis

Objective: To evaluate the association of intron 1 and exon 1 polymorphisms in the estrogen receptor a gene (ER-alpha) with endometriosis in women. Design: Association study. Setting: Endometriosis Unit, Federal University of Sao Paulo. Patient(s): The control group consisted of volunteers older than 45 years who had no evidence of endometriosis antecedents. Two groups with the disease were evaluated: the first group had stage I or 11 endometriosis and the second group stage III or IV. Intervention(s): Polymerase chain reaction (PCR) followed by digestion with HaeIII and MspI endonucleases (RFLP) were applied to detect intron I and exon I polymorphisms, respectively, in a total of 125 controls and 105 affected women. Main Outcome Measure(s): Frequency and distribution of HaeIII and MspI polymorphisms in ER-alpha. Result(s): No significant differences in the frequency of polymorphisms either in intron I or exon I of ER-alpha were found when endometriosis patients were compared with control subjects. Furthermore. the frequency of ER-a polymorphisms within the two different groups of patients with disease was statistically similar. The odds ratio between presence of intron I single-nucleotide polymorphisms (SNP) and endometriosis was 0.904, and the odds ratio between exon I SNP and endometriosis was 0.976. Conclusion(S): The evaluated polymorphisms were not associated with endometriosis. (Fertil Steril(R) 2008; 90:2086-90. (C) 2008 by American Society for Reproductive Medicine.)