Immune gene polymorphisms associated with poor response to platelet transfusion and recombinant factor VII administration in Glanzmann thrombasthenia

Author:

Naderi Majid12ORCID,Mirzaei Ilia34,Seidizadeh Omid5,Moud Abolfazl Parsi34,Sarani Hosna126,Avan Amir7,Taheri Mohsen1,Jahantigh Danial8,Keramati Mohammad Reza9,Sohrabi Tayebeh10

Affiliation:

1. Genetics of Non‐communicable Disease Research Center Zahedan University of Medical Sciences Zahedan Iran

2. Children and Adolescents Health Research Center Zahedan University of Medical Sciences Zahedan Iran

3. Medical Student School of Medicine Zahedan University of Medical Sciences Zahedan Iran

4. Student Research Committee School of Medicine, Zahedan University of Medical Sciences Zahedan Iran

5. Università degli Studi di Milano Department of Pathophysiology and Transplantation Milan Italy

6. The Peter Doherty Institute for Infection and Immunity Melbourne Victoria Australia

7. Metabolic Syndrome Research Center Mashhad University of Medical Sciences Mashhad Iran

8. Department of Biology Faculty of Science University of Sistan and Baluchestan Zahedan Iran

9. Cancer Molecular Pathology Research Center Mashhad University of Medical Sciences Mashhad Iran

10. Department of Pediatrics, Children and Adolescent Health Research Center Zahedan University of Medical Sciences Zahedan Iran

Abstract

AbstractIntroductionPoor response to platelet and recombinant factor VII administration is a major problem in patients with Glanzmann Thrombasthenia (GT). The risk factors associated with poor response to treatment in these patients are unknown. Some genetic variations of cytokines may contribute to therapy resistance.AimsWe evaluated, for the first time, whether genetic polymorphisms on cytokine genes are related to poor treatment response in GT patients.MethodsWe enrolled 30 patients with GT (15 resistant and 15 non‐resistant) and 100 healthy controls. Gene polymorphisms of IL‐10 and TNF‐α were analysed using TaqMan Realtime PCR, and IL‐1, IL‐1R1 and IL‐1RN were investigated with the RFLP method. In‐silico analyses were performed to predict the potential impact of these polymorphisms.ResultsIn the resistant group, all patients had a variant of the IL‐10 gene at the ‐1082 position (rs1800896), with a GG genotype that was significantly more frequent than the non‐resistant group. Analysis between healthy controls and GT patients revealed a probable correlation between rs3783550, rs3783553, rs3917356 and rs2234463 and GT. The In‐silico study indicated that TNF‐α rs1800629 and IL‐10 rs1800896 polymorphisms result in different allelic expressions which may contribute to poor response to therapy.ConclusionsThese findings suggest that polymorphisms in the IL‐10 and IL‐1 receptor antagonist genes may play a role in poor therapy response in GT patients. In addition, some polymorphisms in IL‐1α, IL1‐β, IL‐1R1 and IL‐R antagonists might be involved in the GT progression.

Funder

Mashhad University of Medical Sciences

Publisher

Wiley

Reference40 articles.

1. Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review

2. Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in Iran

3. New Insights Into the Treatment of Glanzmann Thrombasthenia

4. Glanzmann's Thrombasthenia: An Overview

5. The international, prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes of non‐surgical bleeding episodes in patients with Glanzmann thrombasthenia;Di Minno G;Haematologica,2015

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