Major histocompatibility complex class III (C2, C4, factor B) and C3 gene variants in patients with pulmonary tuberculosis

The complement system is an integral part of the host immune system and plays an immunoregulatory role at the interface of innate and acquired immune responses. Limited data are available on the influence of variations in complement genes in infectious diseases such as pulmonary tuberculosis (PTB). The aim of this study was to investigate the role of genetic variations in complement system components C2, C4, BF, and C3 in PTB (n = 125) compared with healthy controls (n = 125) in the Indian population. The study showed, for the first time, an increased occurrence of null alleles at the C4A, i.e., C4AQ0; an increased frequency of BF*FA and C3*F in patients with PTB compared with healthy individuals, and contributed a risk with odds ratios of 18.16 (95% confidence interval [CI] = 3.0–108.6, p = 0.0004), 2.9 (95% CI = 1.9–4.37, pc = 3.15E-06), and 2.26 (95% CI = 1.5–3.3, pc = 6.7E-05), respectively. A combinatorial analysis of complement gene variants as risk determinants and their phenotypic effects in various populations may provide unique insights into the genetic basis of susceptibility to PTB.