Association of MBL2 Codon 34 Variant of Exon 1 with Severity of Tuberculosis in Paediatric Population of South Africa

Abstract

The host genetic factors contribute to determining the susceptibility of an individual to an infectious disease and this forms the basis of this study. Many gene polymorphisms have been implicated in disease development and progression.In this study, a genotypic case-control study was carried out to determine the effect of single nucleotide polymorphisms in MBL2 on tuberculosis on paediatrics drawn mainly from the Xhosa ethnic group, genotyped together with 366 adult controls from Xhosa population. The MBL2 non-synonymous SNP at codon 34 of exon 1 was found to be associated with the development of TB in the study population especially Xhosa ethnic group (p =0.00002).Therefore, codon 34 variant allele of MBL2 may be a risk factor in the development of TB in paediatric population.

Keywords: Tuberculosis, MBL2, Single Nucleotide Polymorphisms, Paediatrics