Inflammatory and immune response genes: A genetic analysis of inhibitor development in Iranian hemophilia A patients

Autor:	Masoumeh Keshavarz Norouzpour, Niloofar Naderi, Afsaneh Seyed Mikaeili, Alireza Azizi Saraji, Azam Bolhassani, Hossein Yousefi, Mohammad Jazebi, Seyedeh Somayeh Moazezi Nekooi Asl, Sahar Mollazadeh, Elnaz Agi, Ali Namvar
Rok vydání:	2019
Předmět:	Adult Male congenital hereditary and neonatal diseases and abnormalities Single-nucleotide polymorphism Iran Hemophilia A Genetic analysis 03 medical and health sciences 0302 clinical medicine Gene Frequency hemic and lymphatic diseases Guanine Nucleotide Exchange Factors Humans Mitogen-Activated Protein Kinase 9 Medicine Alleles Inflammatory genes Factor VIII Polymorphism Genetic Blood Coagulation Factor Inhibitors business.industry GTPase-Activating Proteins Hematology Oncology 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Immunology Immune response genes business 030215 immunology
Zdroj:	Pediatric Hematology and Oncology. 36:28-39
ISSN:	1521-0669 0888-0018
DOI:	10.1080/08880018.2019.1585503
Popis:	A major problem of hemophilia A (HA) treatment is the development of factor VIII (FVIII) inhibitor, which usually occurs shortly after initiating replacement therapy. Several studies showed the correlation between inhibitor development and polymorphisms in inflammatory and immune response genes of HA patients; however, literature data are not available to prove this association in Iranian population. The aim of this study was to investigate a possible association between FVIII inhibitor formation and the polymorphisms of 16 inflammatory and immune response genes in Iranian severe HA patients (FVIII activity1%). This case-control study was performed on 55 patients with severe HA inhibitors and 45 samples without inhibitors from Iranian Comprehensive Hemophilia Care center. After extraction of whole genomic DNA from blood samples and design of primers for 16 genes, the genotyping was performed by Tetra primer ARMS PCR, and the validation of single nucleotide polymorphisms was determined by DNA sequencing. The data indicated that there was a significant association between inhibitor development, and F13A1 (TT), DOCK2 (CCCT), and MAPK9 (TT) genotypes. Moreover, a considerably increased inhibitor risk carrying T, C, and T allele for F13A1, DOCK2, and MAPK9 genes was observed in patients with inhibitors, respectively. In contrast, there was no statistically significant difference between the genotypic and allelic frequencies for other genes in patients with inhibitors compared to patients without inhibitors. These results demonstrate that only polymorphisms in F13A1, DOCK2, and MAPK9 genes are associated with the risk of developing FVIII inhibitors in Iranian HA patients.
Databáze:	OpenAIRE
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