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Funded Studies

Genome-wide Association Study in Parkinson’s Disease Among an East Asian Population

Study Rationale:
The majority of the genome-wide association studies in Parkinson’s disease have included European ancestry cases and controls only, and targeted studies in East Asian populations only replicate a portion of European findings. This may be due to a difference in the background genetic information between Europeans and East Asians, differential impacts of genetic factors among different populations, or simply East Asian studies to date have lacked sufficient sample size. We would like to pull multiple Asian centers together and run a genome-wide association study with a large cohort to better understand the mechanisms leading to Parkinson’s disease within this understudied population.

We aim to locate the genetic loci that contribute to Parkinson’s disease among East Asians through a single nucleotide polymorphism array genome-wide association study.

Study Design:
Seven centers in East Asia active in Parkinson’s disease research and the International Parkinson’s Disease Genomics Consortium (IPDGC) have agreed to combine efforts, and together we have collected DNA from thousands of people with Parkinson’s disease and control volunteers. Working together with Illumina Inc., the IPDGC has designed a genome-wide array targeting Asian populations and neurologic diseases. We will genotype the collected DNA with the designed array and analyze the East Asian data using the methods optimized from previous IPDGC genome-wide association (European) studies.

Impact on Diagnosis/Treatment of Parkinson’s Disease:
Firstly, determining the impact of genetic factors among East Asians will be the first step to design future biomarkers for use in this population for more accurate and earlier Parkinson’s diagnosis. Secondly, finding the exact genetic variants significantly contributing to Parkinson’s disease across various populations will have potential impact in the development of precision medical interventions.

Next Steps for Development:
Firstly, we will compare findings between different ethnic groups. Secondly, we will further increase our cohort size as experiences from the IPDGC suggest novel findings occur up until tens of thousands of cases and controls.


  • Kin Y. Mok, PhD, FRCP, MBBS

    London United Kingdom

  • John Anthony Hardy, PhD

    London United Kingdom

  • Andrew B. Singleton, PhD

    Bethesda, MD United States

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