Lack of association of the PICALM rs3851179 polymorphism with Parkinson's disease in the Greek population

Int J Neurosci. 2012 Oct;122(10):502-605. doi: 10.3109/00207454.2012.697083. Epub 2012 Jul 12.

Abstract

Parkinson's disease (PD) is a complex, heterogeneous neurodegenerative disorder, affecting approximately 1% of the population over 60 years of age. The molecular and cellular mechanisms underlying PD pathogenesis are still unknown. Clathrin-mediated endocytosis (CME) is a procedure closely related to the intracellular trafficking of multiple molecules in the cell, including proteins, lipids, and neurotransmitters. Recently, variations in the gene encoding the phosphatidylinositol binding clathrin assembly protein (PICALM) has been associated with Alzheimer's disease (AD), suggesting a possible role of CME in the pathogenesis of neurodegenerative diseases. In this study, we examined for the first time the potential role of the PICALM rs3851179 polymorphism in PD. We studied the PICALM rs3851179 polymorphism in 191 Greek patients with sporadic PD and 118 control subjects, using a PCR-RFLP method. Our results do not provide evidence that the PICALM rs3851179 polymorphism increase susceptibility of PD, in the Greek population.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genotype
  • Greece
  • Humans
  • Male
  • Middle Aged
  • Monomeric Clathrin Assembly Proteins / genetics*
  • Parkinson Disease / genetics*
  • Polymorphism, Single Nucleotide*

Substances

  • Monomeric Clathrin Assembly Proteins
  • PICALM protein, human