Tekeoğlu, SenemHançer,Veysel SabriEsen, Bahar ArtımNalçacı, Melihaİnanç, MuratKüçükkaya, Reyhan Diz2022-12-022022-12-022022Tekeoglu, S., Hancer, V. S., Artim-Esen, B., Nalcaci, M., Inanc, M., & Diz-Kucukkaya, R. (2022). Beta 2 glycoprotein I Valine247Leucine polymorphism in patients with antiphospholipid syndrome. Experimental Biomedical Research, 5(3), 293-302.2618-6454http://dx.doi.org/10.30714/j-ebr.2022.147https://hdl.handle.net/20.500.12713/3414"Aim: Beta 2 Glycoprotein I (?2-GP I) takes part in the pathogenesis of antiphospholipid syndrome (APS). Valine247Leucine (Val247Leu) gene polymorphism of ?2-GP I might affect the binding/production of anti?2-GP I antibodies. Multiple studies are showing different frequencies of this polymorphism in various ethnic backgrounds; we aimed to determine the frequency and clinical importance of Val247Leu gene polymorphism of ?2-GP I in patients with APS and healthy. Methods: Eighty-three patients with APS [68 primary APS, 15 APS with systemic lupus erythematosus (SLE)] and 63 healthy individuals were included. ?2-GP I Val247Leu polymorphism was determined by quantitative real time polymerase chain reaction and melting curve analysis. The presence of anti-?2-GP I antibodies was detected by ELISA in the patient group. Results: Allele and genotype frequencies were similar between patients and healthy controls (p=0,307). V allele and VV genotype frequencies were significantly higher in primary APS patients with thrombocytopenia (p=0.040). There was no significant difference between ?2-GP I Val247Leu gene polymorphism and the anti?2-GP IgM and IgG antibody levels in the patient group (p=0.631 and p=0.077, respectively) Conclusion: This is the first study investigating the ?2-GP I Val247Leu gene polymorphism in the Turkish population. The frequencies of Val247Leu gene polymorphism of ?2-GP I were not different between patients with APS and healthy individuals in line with the other studies in Caucasian populations. Significantly high levels of V allele and VV genotype frequencies in primary APS patients could offer further insight to into the pathogenesis of thrombocytopenia in APS."eninfo:eu-repo/semantics/openAccessAntiphospholipid SyndromeBeta 2 Glycoprotein IGene PolymorphismThrombocytopeniaArticle5329330210.30714/j-ebr.2022.147530878