Details

Autor(en) / Beteiligte

• Bylińska, Aleksandra
• Wilczyńska, Karolina
• Malejczyk, Jacek
• Milewski, Łukasz
• Wagner, Marta
• Jasek, Monika
• Niepiekło-Miniewska, Wanda
• Wiśniewski, Andrzej
• Płoski, Rafał
• Barcz, Ewa
• Roszkowski, Piotr
• Kamiński, Paweł
• Malinowski, Andrzej
• Wilczyński, Jacek R.
• Radwan, Paweł
• Radwan, Michał
• Kuśnierczyk, Piotr
• Nowak, Izabela

Titel

The impact of HLA-G, LILRB1 and LILRB2 gene polymorphisms on susceptibility to and severity of endometriosis

Ist Teil von

• Molecular genetics and genomics : MGG, 2018-06, Vol.293 (3), p.601-613

Ort / Verlag

Berlin/Heidelberg: Springer Berlin Heidelberg

Erscheinungsjahr

2018

Quelle

Single Title from SpringerLink

Beschreibungen/Notizen

• 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.