rs7744433
This is a intron variant variant in the PACRG gene.
▶Research that mentions this SNP (1)
▶Linkage disequilibrium pattern and age-at-diagnosis are critical for replicating genetic associations across ethnic groups in leprosyAssociationN=934Andrea Alter et al.(2013)· Human Genetics
This association study examined PARK2/PACRG gene variants and their association with leprosy susceptibility across ethnic groups. In 198 Vietnamese leprosy families, high-density SNP mapping identified 69 SNPs associated with leprosy (P < 0.05), with multivariate analysis identifying four key SNPs (rs1333955, rs7744433, rs2023004, rs6936895; P = 1.1 × 10⁻⁵). Replication in 364 Indian cases and 370 controls confirmed two SNPs (rs1333955 and rs2023004) with multivariate P < 10⁻⁸. The study demonstrated that ethnic differences in linkage disequilibrium patterns and age-at-diagnosis significantly affect genetic association replication across populations.
About PACRG
This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all PACRG variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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