Abstract
Leprosy is a chronic infectious disease caused by Mycobacterium Leprae, where the host genetic background plays an important role toward the disease pathogenesis. Various studies have identified a number of human genes in association with leprosy or its clinical forms. However, non-replication of results has hinted at the heterogeneity among associations between different population groups, which could be due to differently evolved LD structures and differential frequencies of SNPs within the studied regions of the genome. A need for systematic and saturated mapping of the associated regions with the disease is warranted to unravel the observed heterogeneity in different populations. Mapping of the PARK2 and PACRG gene regulatory region with 96 SNPs, with a resolution of 1 SNP per 1 Kb for PARK2 gene regulatory region in a North Indian population, showed an involvement of 11 SNPs in determining the susceptibility towards leprosy. The association was replicated in a geographically distinct and unrelated population from Orissa in eastern India. In vitro reporter assays revealed that the two significantly associated SNPs, located 63.8 kb upstream of PARK2 gene and represented in a single BIN of 8 SNPs, influenced the gene expression. A comparison of BINs between Indian and Vietnamese populations revealed differences in the BIN structures, explaining the heterogeneity and also the reason for non-replication of the associated genomic region in different populations.
Highlights
Mycobacterium leprae is the causative agent of chronic granulomatous infectious disease, known as Leprosy
Several studies have identified a number of human genes, such as HLA-DR [14,15], LTA [16], TLRs [17,18]; and genomic regions like 10p13 [19], 6p21 [20], 17q11–q21 [21], 20p13 [22] and 6q25-26 harbouring variants in the common regulatory region of PARK2 and PACRG genes [23] to be associated with the disease or its clinical forms
Leprosy is a chronic granulomatous infection caused by the intracellular organism Mycobacterium leprae
Summary
Mycobacterium leprae is the causative agent of chronic granulomatous infectious disease, known as Leprosy. A limited number show clinically recognizable lesions [4], and a simultaneous spectrum of the disease symptoms that depends upon the interaction between host immune system and the pathogen. Several studies have identified a number of human genes, such as HLA-DR [14,15], LTA [16], TLRs [17,18]; and genomic regions like 10p13 [19], 6p21 [20], 17q11–q21 [21], 20p13 [22] and 6q25-26 harbouring variants in the common regulatory region of PARK2 and PACRG genes [23] to be associated with the disease or its clinical forms.
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