Mannose-binding lectin (+54) exon-1 gene polymorphism influence human immunodeficiency virus-1 susceptibility in North Indians.

Mannose-binding lectin (MBL) is a circulating pattern-recognition molecule involved in the innate immune system that mediates phagocytosis and activates complement by binding to carbohydrate motifs. MBL-2 allelic variants are associated with deficiencies in innate immunity and have been found to be correlated with human immunodeficiency virus (HIV) infection. The present study investigated the role of MBL-2 exon-1 gene polymorphism (A, B, C and D) in 180 HIV-1 seropositive (HSP) stratified on the basis of disease severity (stage I, II, III), 50 HIV-1 exposed seronegative (HES) and 305 HIV-1 seronegative (HSN) individuals as a possible factor in the susceptibility to HIV-1 infection and the influence on disease progression among North Indian individuals. In our population, gene frequencies of MBL-2 variants were 15%, 5% and 2% for B, C and D alleles, respectively. The frequency of A/O heterozygous genotype was higher (42.00%), mainly because of A/D in HES group compared with HSP (35.00%) and HSN (36.72%) group. Homozygous B/B genotype was more frequent in HSP (6.11%) group than in HSN (1.31%; P = 0.005; odds ratio (OR) = 4.898) and was significantly associated with fourfold risk of acquiring HIV-1 infection. Our findings indicate that homozygosity for the codon 54-allele associated with low MBL production in the exon-1 of the MBL-2 gene is associated with increased susceptibility to HIV-1 infection in the studied population.