02405nas a2200337   4500000000100000008004100001653001200042653001900054653001000073653001000083653002500093653001200118653001000130653001100140100001300151700001000164700001800174700001500192700001200207700001400219700001800233700001100251700001100262700001900273700001400292245017200306856007700478490000600555050001600561520149000577       2013                            d10aVietnam10aSusceptibility10aPARK210aPACRG10aMycobacterium leprae10aleprosy10aIndia10aBrazil1 aChopra R1 aAli S1 aSrivastava AK1 aAggarwal S1 aKumar B1 aManvati S1 aKalaiarasan P1 aJena M1 aGarg V1 aBhattacharya S1 aBamezai R00aMapping of PARK2 and PACRG overlapping regulatory region reveals LD structure and functional variants in association with leprosy in unrelated indian population groups  uhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701713/pdf/pgen.1003578.pdf0 v9  aCHOPRA 20133 aLeprosy 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.