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Polymorphism analysis in the CTLA-4 (rs231775) gene as a marker of inhibitor development in Iranian patients with hemophilia A
Abstract:   (408 Views)
Background and purpose: Hemophilia A is the result of a deficiency in the clotting protein factor VIII. Moreover, development of factor VIII (FVIII) inhibitor is the main problem of replacement therapy in patients with hemophilia A. Recently, the correlation of polymorphisms of some genes involved in immune system has been determined with inhibitor development. The reports showed that cytotoxic T lymphocyte antigen-4 (CTLA-4) plays an important role in regulating T cell activation and thus, CTLA-4 gene polymorphism is related to genetic susceptibility to various autoimmune diseases. Herein, we investigated the correlation between polymorphism of CTLA-4 gene and inhibitor development in Iranian hemophilia A patients, for the first time.
Materials and methods: In this case-control study, the genomic DNA was extracted from blood samples of 55 inhibitor positive and 45 inhibitor negative hemophilia A patients. Then, the genotyping of CTLA-4 gene was performed using Tetra Primer ARMS PCR. The results of Tetra Primer ARMS PCR were observed on 1% agarose gel. Moreover, the validation of single nucleotide polymorphisms (SNPs) in CTLA-4 gene was determined by DNA sequencing. On the other hand, the role of HCV infection was determined in inhibitor-positive and inhibitor-negative HA patients. All data were statistically analyzed by SPSS version 15.0 software using Chi square and Logistic regression tests.
Results: Our data showed that no statistically significant difference was observed between the genotypic and allelic frequencies with the presence of inhibitors (p > 0.05). Moreover, a significant correlation was observed between HCV infections and development of inhibitors (p < 0.05).
Conclusion: Generally, CTLA-4 gene polymorphism does not play a role for inhibiting coagulation factor in hemophilia type A Iranian patients.
Keywords: Hemophilia A, Inhibitor, CTLA-4, Tetra Primer ARMS PCR
     
Type of Study: Research | Subject: General
Received: 2017/08/25 | Accepted: 2017/12/23 | Published: 2018/01/10
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Polymorphism analysis in the CTLA-4 (rs231775) gene as a marker of inhibitor development in Iranian patients with hemophilia A. Feyz. 2018; 22 (1)
URL: http://feyz.kaums.ac.ir/article-1-3414-en.html


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مجله علمی پژوهشی فیض ::: دانشگاه علوم پزشکی کاشان KAUMS Journal ( FEYZ )
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