Endometriosis Is Associated with Functional Polymorphism in the Promoter of Heme Oxygenase 1 () Gene.

Endometriosis is a common gynecological disorder characterized by the ectopic growth of endometrial-like tissue outside the uterine cavity. Etiopathogenesis of endometriosis is poorly understood; it is plausible, however, that the disease may be associated with oxidative stress related to local heme and iron metabolism. Therefore, the aim of the study was to reveal a possible association of endometriosis with a stress-inducible heme oxygenase 1 (HMOX1). For this purpose, 228 patients with clinically confirmed endometriosis and 415 control parous women from general Polish population were examined for functional -413A>T (rs2071746) single-nucleotide polymorphism (SNP) and () dinucleotide repeat length polymorphism in the promoter of gene. In addition, -413A>T SNP was assessed by the specific TaqMan SNP Genotyping Assay, and () polymorphism was determined by PCR product size analysis. We found that endometriosis is associated with an increased frequency of -() haplotype (OR (95%CI) = 1.27 (1.01-1.60), = 0.0381) and -() homozygous genotype [OR (95%CI) = 1.51 (1.06-2.17), = 0.0238]. These data suggest that endometriosis is associated with functional polymorphism of gene, and this gene may play a part in the pathogenesis of this disorder.