MBL, P2X7, and SLC11A1 gene polymorphisms in patients with oropharyngeal tularemia

Abstract

Conclusion: A significant association was found of oropharyngeal tularemia with SLC11A1 allele polymorphism (INT4G/C) and MBL2 C+4T (P/Q). These results indicate C allele and Q allele might be a risk factor for the development of oropharyngeal tularemia.Aim: This study aimed to investigate the relationship of SLC11A1, MBL, and P2X(7) gene polymorphism with oropharyngeal tularemia.Methods: The study included totally 120 patients who were diagnosed with oropharyngeal tularemia. Frequencies of polymorphisms in the following genes were analyzed both in the patient and control groups in the study: SLC11A1 (5'(GT)(n) Allele 2/3, Int4G/C, 3' UTR, D543N G/A), MBL (MBL2 C+4T (P/Q), and P2X(7) (-762 C/T and 1513 A/C).Results: Among all polymorphisms that were investigated in this study, SLC11A1 gene showed a significance in the distriburtion of polymorphism allelle frequency at the INT4 region. Frequency of C allele was 54 (28%) in patients with oropharyngeal tularemia, and 31 (13%) in the control group (p=0.006 and OR = 1.96 (1.21-3.20)). An association was detected between MBL2 C+4T (P/Q) gene polymorphism and oropharyngeal tularemia (p<0.005 and OR=0.30 (0.19-0.48)). No significant relation was found between P2X(7) (-762 C/T and 1513 A/C) gene polymorphism and oropharyngeal tularemia in this study (p>0.05).