Endometriosis Is Associated with Functional Polymorphism in the Promoter of Heme Oxygenase 1 (HMOX1) Gene.
Cells
; 10(3)2021 03 21.
Article
in En
| MEDLINE
| ID: mdl-33800989
ABSTRACT
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 (GT)n dinucleotide repeat length polymorphism in the promoter of HMOX1 gene. In addition, -413A>T SNP was assessed by the specific TaqMan® SNP Genotyping Assay, and (GT)n polymorphism was determined by PCR product size analysis. We found that endometriosis is associated with an increased frequency of -413A(GT)31,32 haplotype (OR (95%CI) = 1.27 (1.01-1.60), p = 0.0381) and -413A(GT)31,32 homozygous genotype [OR (95%CI) = 1.51 (1.06-2.17), p = 0.0238]. These data suggest that endometriosis is associated with functional polymorphism of HMOX1 gene, and this gene may play a part in the pathogenesis of this disorder.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Promoter Regions, Genetic
/
Genetic Predisposition to Disease
/
Polymorphism, Single Nucleotide
/
Endometriosis
/
Heme Oxygenase-1
/
Genetic Association Studies
Type of study:
Observational_studies
/
Risk_factors_studies
Limits:
Adult
/
Female
/
Humans
/
Middle aged
Language:
En
Journal:
Cells
Year:
2021
Document type:
Article
Affiliation country:
Polonia