Single Nucleotide Polymorphisms of PARKIN Gene in Ten Indian Populations

Parkinson’s disease (PD) is the second most common progressive neurodegenerative brain disorder after Alzheimer’s disease. Due to the complex etiology of PD, there is possibility that single nucleotide polymorphisms (SNP) in PARKIN gene could be associated with the disease and lead to the pathogenesis by genoenvironmental interactions. Role of PARKIN polymorphisms as risk factors varies in different populations among various ethnic groups. Indian populations, known for their rich diversity, are not included in the genotyping of single nucleotide polymorphisms in the global survey for all the genes associated with PD. Further detailed study in this field will give a greater insight to analyze the haplotypic and Linakage Disequilibrium (LD) and decipher the pathogenesis of PD patterns in this region. A total of 1000 individuals belonging to ten ethnic populations of India were included in the present study. Five PARKIN gene polymorphisms (rs1801474, rs72480421, rs1801582, rs1801334 and rs35125035) were screened by PCR and sequencing. The present study shows that the rs72480421 (His200Gln) is monomorphic for all populations. Five major haplotypes accounted for almost all chromosomes (90-98%) in all populations studied. LD was more fragmented across PARKIN locus in all populations. The haplotype diversity and the fragmented LD across PARKIN gene in all populations of the present study suggest the existence of frequent recombination within the large introns of the PARKIN gene.