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Genes for Parkinson's disease.

Tatsushi Toda

    Nihon Rinsho. Japanese Journal of Clinical Medicine
    |December 20, 2018
    PubMed
    Summary

    Genetic and environmental factors contribute to Parkinson's disease (PD). Genome-wide association studies have identified numerous susceptibility genes and rare variants, like Gaucher disease mutations, as risk factors for PD onset.

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    Area of Science:

    • Neuroscience
    • Genetics
    • Molecular Biology

    Background:

    • Parkinson's disease (PD) pathogenesis involves genetic and environmental factors.
    • Familial PD linked to ~14 genes implicates protein degradation defects in dopaminergic neuron death.
    • Sporadic PD, the majority of cases, is a complex multifactorial genetic disorder.

    Purpose of the Study:

    • To identify genetic susceptibility loci for Parkinson's disease.
    • To investigate the role of rare variants in PD onset.
    • To understand the genetic architecture of both familial and sporadic Parkinson's disease.

    Main Methods:

    • Genome-wide association study (GWAS) to identify PD-susceptibility loci.
    • Large-scale meta-analysis of GWAS data.
    • Analysis of rare variants, including Gaucher disease mutations.

    Main Results:

    • Identification of four PD-susceptibility loci through GWAS.
    • Meta-analysis of GWAS revealed approximately 30 associated genes.
    • Gaucher disease mutations confirmed as a significant rare variant risk factor for PD.

    Conclusions:

    • Genetic factors play a crucial role in Parkinson's disease etiology.
    • GWAS and meta-analyses are powerful tools for uncovering PD-associated genes.
    • Rare variants, such as those in Gaucher disease, represent important risk factors for Parkinson's disease.

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