The association of HLA-DRB1 alleles and MBL2 gene variant in pediatric acute lymphoblastic leukemia patients.

Autor: Oguz R; Istanbul T.C. Demiroğlu Bilim University, Faculty of Medicine, Istanbul, Turkey. Electronic address: rustu.oguz@florence.com.tr., Ciftci HS; Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Gokce M; Istanbul Yeni Yuzyıl University, Gaziosmanpasa Hospital, Istanbul, Turkey., Ogret Y; Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Karadeniz S; Kadir Has University, Graduate School of Science and Engineering, Istanbul, Turkey., Pehlivan S; Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Ozdilli K; Medipol University, Faculty of Medicine, Istanbul, Turkey., Karakas Z; Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Karaman S; Division of Hematology and Oncology, Department of Pediatrics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Aydın F; Istanbul T.C. Demiroğlu Bilim University, Faculty of Medicine, Istanbul, Turkey.
Jazyk: angličtina
Zdroj: Hematology, transfusion and cell therapy [Hematol Transfus Cell Ther] 2024 Oct-Dec; Vol. 46 (4), pp. 327-334. Date of Electronic Publication: 2023 Mar 21.
DOI: 10.1016/j.htct.2023.02.002
Abstrakt: Introduction: Epidemiologic studies on pediatric acute lymphoblastic leukemias (ALL) have been conducted to evaluate the possible risk factors including genetic, infectious and environmental factors with the objective of idenfying the etiology. Mannose-binding lectin 2 (MBL2) plays an important role in first-line immune defense. HLA DRB1 alleles play a role in presentation of peptides to T cells and in activation of the adaptive immune response.
Objective: In our study, we aimed to investigate both the MBL2 gene variant and HLA-DRB1 alleles in pediatric ALL patients.
Materials: In this study, 86 high-risk ALL patients and 100 controls were included. Polymerase Chain Reaction (PCR)-Restriction Fragment Length Polymorphism (PCR-RFLP) and PCR-sequence specific primer (SSP) methods were used for detection of polymorphism of the MBL2 and HLA-DRB1 alleles, respectively.
Results: The frequency of the MBL2 AB genotype was lower in female ALL patients, compared to male ALL patients (p = 0.034). An association was found between the MBL2 BB genotype and DRB1*07 and among patients with the MBL2 BB genotype; those who also carried the DRB1*07 and *04 alleles were significantly higher than those without the DRB1*07 and *04 alleles. (p = 0.048, p = 0.022, respectively).
Conclusion: This is the first study suggesting that the MBL2 BB genotype in association with the DRB1*07 or co-inheritance of the HLA-DRB1*04 and HLA DRB1*07 may have an impact on the etiopathogenesis of the disease.
Competing Interests: Conflicts of interest The authors declare that there is no conflict of interest for the study.
(Copyright © 2023 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier España, S.L.U. All rights reserved.)
Databáze: MEDLINE