23andMe discovers genetic variant that may protect those at risk for Parkinson's disease
23andMe, Inc., a leading personal genetics company, has announced the first-time discovery of the potentially protective nature of the gene serum/glucocorticoid regulated kinase 1 (SGK1) which appears to be protective against a high-risk leucine-rich repeat kinase 2 (LRRK2) mutation for Parkinson's disease (PD).
The LRRK2 gene is recognized as a significant risk factor for Parkinson's disease. Of the approximately 1 in 10,000 people who carry a mutation called G2019S on the LRRK2 gene, about half develop Parkinson's disease. 23andMe has a large cohort of individuals who carry the G2019S mutation but surprisingly, do not have Parkinson's. In examining this cohort, 23andMe discovered the potentially protective nature of SGK1.
In a program funded by a $500,000 grant from The Michael J. Fox Foundation for Parkinson's Research, The Scripps Research Institute is investigating SGK1 and LRRK2, seeking to identify a new and potentially vital therapeutic target for Parkinson's disease.
The SGK1 finding was possible due to the magnitude of 23andMe's very active research community. The company currently has 125,000 genotyped customers, and nearly 90 percent have opted-in to participate in the company's Institutional Review Board-approved research. 23andMe has amassed the single largest Parkinson's research cohort in the world, which now comprises more than 6,000 participants and includes one of the largest cohorts of individuals carrying the pathogenic mutations in the LRRK2 gene.
In addition to genetic data, the company also compiles phenotypic (survey) data from research participants, which provides researchers with important insights into the interplay between genetics and overall health. "The 23andMe research platform can efficiently identify healthy individuals with rare genetic variants. Finding them is akin to finding a needle in a haystack and can only be identified with large databases like 23andMe," stated 23andMe CEO Anne Wojcicki. "These individuals are extremely valuable for us to study as they provide insights into why some people do not develop disease despite having high-risk genetic factors. This could lead to new drug targets or diagnostics."
"The 23andMe Parkinson's initiative has proven the tremendous potential in leveraging DNA technology, the Internet, and patient participation to accelerate findings that enhance our understanding of Parkinson's disease," said Todd Sherer, CEO of The Michael J. Fox Foundation. "The SGK1 discovery, while still early-stage, is a promising outcome of this unique research platform, and holds potential to inform a therapeutic approach for Parkinson's. We are eager to see the results of the continued investigation of SGK1 by Scripps."
23andMe first assembled its Parkinson's disease research initiative in June 2009. Within an 18-month period, 23andMe assembled and analyzed genetic data from more than 3,400 Parkinson's patients and successfully replicated the top 20 previously known genetic associations with Parkinson's disease in addition to determining new genetic associations for Parkinson's. Those findings were published in PLoS Genetics in June 2011. That study identified two novel loci, rs6812193 near SCARB2 and rs11868035 near SREBF1/RA11 and replicated those loci in an independent data cohort from the National Institute of Neurological Disease and Stroke (NINDS) database.
Provided by 23andMe Inc.