Results
| PMID | 29234882 |
| Gene Name | LILRB1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | HLA-G rs1233334, LILRB1 rs41308748:AA and LILRB2 rs383369 |
| Population size | 590 |
| Population details | 590(276 patients with endometriosis, 314 healthy fertile women) |
| Sex | Female |
| Associated genes | HLA-G, KIR2DL4, LILRB1 and LILRB2 |
| Other associated phenotypes |
Endometriosis |
|
Mol Genet Genomics. 2018 Jun;293(3):601-613. doi: 10.1007/s00438-017-1404-3. Epub Bylinska, Aleksandra| Wilczynska, Karolina| Malejczyk, Jacek| Milewski, Lukasz| Wagner, Marta| Jasek, Monika| Niepieklo-Miniewska, Wanda| Wisniewski, Andrzej| Ploski, Rafal| Barcz, Ewa| Roszkowski, Piotr| Kaminski, Pawel| Malinowski, Andrzej| Wilczynski, Jacek R| Radwan, Pawel| Radwan, Michal| Kusnierczyk, Piotr| Nowak, Izabela Department of Clinical Immunology, Laboratory of Immunogenetics and Tissue Immunology, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, ul. Rudolfa Weigla 12, 53-114, Wroclaw, Poland.| Department of Clinical Immun 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. Mesh Terms: Adult| Antigens, CD/*genetics| Disease Progression| Endometriosis/*genetics| Female| *Genetic Predisposition to Disease| HLA-G Antigens/*genetics| Humans| Leukocyte Immunoglobulin-like Receptor B1/*genetics| Membrane Glycoproteins/*genetics| *Po |
|