Endometriosis Is Associated with Functional Polymorphism in the Promoter of Heme Oxygenase 1 (HMOX1) Gene

Łukasz Milewski, Aneta Ścieżyńska, Joanna Ponińska, Marta Soszyńska, Ewa Barcz, Piotr I Roszkowski, Paweł Kamiński, Paweł Włodarski, Rafał Płoski, Jacek Malejczyk
Cells · 2021 · vol. 10(3) , pp. 695 · doi:10.3390/cells10030695 · PMID:33800989 · W3138684837
article OA: gold CC0 ⤵ 10 in-corpus citations
🔓 Open OA copy View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

Endometriosis is associated with increased frequency of the −413A(GT)31,32 haplotype and homozygous genotype in the promoter of the heme oxygenase 1 (HMOX1) gene.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

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.

My notes (saved in your browser only)

Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Genetic Association Studies Genetic Predisposition to Disease Heme Oxygenase-1 Polymorphism, Single Nucleotide Promoter Regions, Genetic Adult Case-Control Studies Endometriosis Female Gene Frequency Gene Frequency Haplotypes Haplotypes Heme Oxygenase-1 Humans Middle Aged Polymorphism, Single Nucleotide Young Adult

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (59)

Cited by (10)

Source provenance

europepmc
last seen: 2026-06-04T01:30:01.192114+00:00
openalex
last seen: 2026-06-04T00:00:01.174412+00:00
pubmed
last seen: 2026-05-13T22:24:43.494969+00:00
License: CC0 · commercial use OK