Family-based genetics identifies association of CUBN, IL1RL1 and PRKN variants with leprosy in Bangladesh

Abstract Previous studies have demonstrated the association between the occurrence of leprosy and several host genetic variants that can vary across different ethnic groups and populations. Since leprosy susceptibility genes have not been investigated in detail in the Bangladeshi population that still includes highly endemic areas, we here studied known associations between leprosy and 13 genetic markers located in 11 genes in a leprosy endemic area in Bangladesh for which an association with leprosy was previously found in an isolated former leprosy colony in the Brazilian Amazon. For this study, a family-based analysis using 60 parent-affected child trios was performed, followed by a case-control study of 210 leprosy patients and 189 healthy controls from the same area (endemic controls). Genotypes for 11 markers were determined by TaqMan SNP genotyping. In the family-based study, a significant association was found between leprosy and three single nucleotide polymorphisms, rs1801224, rs13001714, and rs1801582, located in the CUBN, IL1RL1, and PRKN genes, respectively. These findings were not replicated in the case-control sample. Variants in the CUBN, IL1RL1, and PRKN genes were associated with leprosy in Bangladesh, validating the initial Brazilian finding in a population sample of distinct ethnic background.