ArticlePLoS genetics2013
Mapping of PARK2 and PACRG overlapping regulatory region reveals LD structure and functional variants in association with leprosy in unrelated indian population groups.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.Proceedings of the National Academy of Sciences of the United States of America · 2019Trial
- Article
- PARK2 as a susceptibility factor for nontuberculous mycobacterial pulmonary disease.Respiratory research · 2024Article
- Leprosy: treatment, prevention, immune response and gene function.Frontiers in immunology · 2024Review
- Review
- Association of NOD2 and IFNG single nucleotide polymorphisms with leprosy in the Amazon ethnic admixed population.PLoS neglected tropical diseases · 2020Article
- TheScience signaling · 2020Article
- Cell Biology of Intracellular Adaptation ofMicrobiology spectrum · 2019Review
- Human genetics of mycobacterial disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2018Review
- Genetic Susceptibility to Leprosy-From Classic Immune-Related Candidate Genes to Hypothesis-Free, Whole Genome Approaches.Frontiers in immunology · 2018Review
- The Role of Mitophagy in Innate Immunity.Frontiers in immunology · 2018Review
- Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China.Scientific reports · 2016Article
- Association Between Tuberculosis and Parkinson Disease: A Nationwide, Population-Based Cohort Study.Medicine · 2016Article
- Mitophagy and the mitochondrial unfolded protein response in neurodegeneration and bacterial infection.BMC biology · 2015Review
- Gene Association with Leprosy: A Review of Published Data.Frontiers in immunology · 2015Review
- Article
- Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
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