The impact of HLA-G, LILRB1 and LILRB2 gene polymorphisms on susceptibility to and severity of endometriosis
Open accessAbstract
Endometriosis is a disease in which endometriotic tissue occurs outside the uterus. Its pathogenesis is still unknown. The most widespread hypothesis claims that ectopic endometrium appears as a result of retrograde menstruation and its insufficient elimination by immunocytes. Some reports have shown expression of non-classical HLA-G molecules on ectopic endometrium. HLA-G is recognized by KIR2DL4, LILRB1 and LILRB2 receptors on natural killer (NK) and other cells. These receptors are polymorphic, which may affect their activity. In this study we investigated whether HLA-G, KIR2DL4, LILRB1 and LILRB2 polymorphisms may influence susceptibility to endometriosis and disease progression. We used polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism (PCR-RFLP) and allelic discrimination methods with TaqMan SNP Genotyping Assays for typing of 276 patients with endometriosis and 314 healthy fertile women. The HLA-G rs1632947:GG genotype was associated with protection against the disease and its severe stages; HLA-G rs1233334:CT protected against progression; LILRB1 rs41308748:AA and LILRB2 rs383369:AG predisposed to the disease and its progression. No effect of KIR2DL4 polymorphism was observed. These results support the role of polymorphisms of HLA-G and its receptors LILRB1 and LILRB2 in susceptibility to endometriosis and its progression.
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Expression of HLA-G molecules in the ectopic endometrium has been demonstrated.
“Expression of HLA-G molecules in the ectopic endometrium has been demonstrated.”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [192]
Genetic analyses of Bylińska et al. confirm the role of polymorphisms of the HLA-G gene and its receptors LILRB1 and LILRB2 in the development of endometriosis.
“Genetic analyses of the Bylińska et al. confirm the role of polymorphisms of the HLA-G gene and its receptors LILRB1 and LILRB2 for the development of endometriosis [192].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [192]
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References 61 · Cited by 38
- Authors
- Bylińska, A., Wilczyńska, K., Malejczyk, J., Milewski, Ł., Wagner, M., Jasek, M., Niepiekło-Miniewska, W., Wiśniewski, A., Płoski, R., Barcz, E., Roszkowski, P., Kamiński, P., Malinowski, A., Wilczyński, J. R., Radwan, P., Radwan, M., Kuśnierczyk, P., & Nowak, I.
- Affiliations
- Ludwik Hirszfeld Institute of Immunology and Experimental Therapy (PL)
- Medical University of Warsaw (PL)
- Central Clinical Hospital (PL)
- Polish Mother’s Memorial Hospital Research Institute (PL)
- Medical University of Lodz (PL)
- Corresponding author
- Kuśnierczyk, Piotr
- Nowak, Izabela
- ORCID
- Venue
- Molecular Genetics and Genomics
- Published
- 2017-12-12
- Volume
- 293
- Issue
- 3
- Pages
- 601-613
- ISSN
- 1617-4615 (ISSN-L)
- 1617-4623
- PMC
- PMC5948266
- OpenAlex
- W2774855450
- Cited by
- 38
- References
- 61
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 5 · 2023: 4 · 2022: 11 · 2021: 3 · 2020: 2 · 2019: 7
- FWCI
- 2.85
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Genetics and Genomics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- The Ministry of Science and Higher Education (2.P05A.069.28)
- The National Science Centre (N N401 588340)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Life Sciences › Immunology and Microbiology › Immunology › Reproductive System and Pregnancy
- Life Sciences › Immunology and Microbiology › Immunology › Immune Cell Function and Interaction
- Keywords
- endometriosis, HLA-G, LILRB1, LILRB2, KIR2DL4, genetic polymorphism, genetic susceptibility, disease progression, natural killer cells, immune receptors
- MeSH terms
- Leukocyte Immunoglobulin-like Receptor B1, Adult, Endometriosis, Female, Humans, Membrane Glycoproteins, Receptors, Immunologic, Retrospective Studies, Severity of Illness Index, Antigens, CD, Disease Progression, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Receptors, KIR2DL4, HLA-G Antigens
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