INVESTIGATING THE IGSF2 AND TNFα GENES POLYMORPHISM ANDTHE RISK OF INHIBITOR DEVELOPMENT IN PATIENTS WITH HEMOPHILIA A

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SEYED MIKAEILI AFSANEH; BOLHASSANI AZAM; NASOUHI NIKOO

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Journal: JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES Year:2018 | Volume:28 | Issue:162 Page(s): 59-68

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Title

INVESTIGATING THE IGSF2 AND TNFα GENES POLYMORPHISM ANDTHE RISK OF INHIBITOR DEVELOPMENT IN PATIENTS WITH HEMOPHILIA A

Author(s)

SEYED MIKAEILI AFSANEH | BOLHASSANI AZAM | NASOUHI NIKOO | Issue Writer Certificate

Keywords

HEMOPHILIA AQ2

INHIBITORQ3

POLYMORPHISMQ2

IGSF2 GENEQ1

TNF-αGENEQ1

Abstract

Background and purpose: Hemophilia is a hereditary X-linked disorder. Females are carriersand males have the disorder. HEMOPHILIA A is caused by deficiency in the production of factor VIII. Insome hemophilia patients, INHIBITORs including IgG1 and IgG4 antibodies are expressed against this factor. These INHIBITORs interact with factor VIII and suppress its function. The current study aimed atinvestigating the relationship between single nucleotide IGSF2 and TNFα genes POLYMORPHISM anddevelopment of INHIBITORs in patients with HEMOPHILIA A. Materials and methods: In this case-control study, 100 patients with HEMOPHILIA A wereselected (55 with INHIBITOR and 45 without INHIBITOR). Recognition of INHIBITOR was performed by Bethesdatest. DNA was extracted from whole blood samples. A single-nucleotide POLYMORPHISM of IGSF2 andTNFα genes was performed using Tetra ARMS-PCR assay. Results: Hardy-Weinberg equilibrium was investigated in both groups. Comparing the IGSF2and TNF-α genotypes in these groups indicated a significant correlation between single-nucleotidepolymorphism of IGSF2 and development of INHIBITORs (p= 0. 018, odds ratios for AA and AG genotypeswere 1. 39 and 0. 37, respectively). A significant association was seen between incidence of INHIBITORs andconsanguineous marriages and viral infection (p<0. 05). Moreover, the association between response totreatment and Bethesda test was significantly different between the two groups (p= 0. 002). Conclusion: According to these results, the risk of development of INHIBITORs has a directrelationship with mutation in IGSF2 GENE.

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