Genome wide SNP analysis in Parkinson's disease
National Institute On Aging
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Abstract
The genetic contribution to a number of neurological disorders is thought to be complex in nature, disease risk being driven by a combination of risk alleles commonly present in the human genome. Over the last 10 years we have invested considerable time and resources in applying genome wide association methods to determine the genetic basis of Parkinson disease. We formed the International Parkinson's Disease Genomics Consortium to facilitate international collaboration amongst leading Parkinson disease research groups focused on understanding the genetic basis of this disease. We extended the genome wide association in PD to include a cohort of approximately 60,000 disease cases or disease-related cases, and 1.5 million controls. This work revealed 90 risk loci for disease, has redefined the heritable component of Parkinson disease, has identified critical tissue and cellular context for genetic risk, and revealed co-morbid conditions. We have recently formed the Global Parkinsons Genetics Program (GP2) through the Aligning Science Across Parkinsons (ASAP) initiative. GP2 plans to genotype >150,000 volunteers around the world to further understand the genetic architecture of Parkinsons disease. GP2 aims to increase the number of identified genes, disease-causing mutations, and risk loci for both monogenic and complex PD. We will also prioritize individuals from underrepresented backgrounds in these efforts. A subset of cases will undergo whole-genome sequencing to elucidate genetics contributing to monogenic PD, or long-read DNA sequencing to sequence challenging genomic regions.
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