Inherited Risk for Parkinson's Disease 'LRRK2 signature'
Parkinson's Disease
LRRK2 signature
This test indicates whether or not you have inherited a high risk signature within the LRRK2 gene. It does not for the p.G2019S mutation. It was developed to assess
predisposition among white persons of European ancestry.
This is not a diagnostic test and does not indicate the presence or absence of Parkinson's Disease. A test result is not an absolute indicator that a person will or will not develop PD.
Low frequency forms of the LRRK2 gene are often found among Parkinson's patients. A third of patients carry a specific form
A number of genes that cause Parkinson's disease have been identified in family studies: mutations in SNCA, UCHL1, HTRA2 and other genes are found in several generations of patients in rare families. These mutations are rare and do not account for most occurrences of Parkinson's disease. A specific mutation in the LRRK2 gene called p.G2019S is found among 2% of cases including one of the founders of 23andMe.
Our assessment of risk for Parkinson's disease does not test for mutations. Instead, we determine whether a specific genetic signature is found at locations in the LRRK2 gene. Six locations throughout the gene are tested. At each location one of two DNA building blocks is present: rs1157655, rs1907632 + rs11564205 + rs11564203 + rs11829088, and rs11564173. The underlined locations are highly correlated and considered together as the core of the test. Persons at low risk have inherited the common gene variants at these locations from both parents: G/G at rs1157655, CAGT/CAGT for the core SNPs, and G/G at rs11564173. Persons at high risk carry G/A for rs1157655, CAGT/TGAG or another allele for the core SNPs, and G/A or A/A at rs11564173. Patent pending.
This signature is either present (high risk) or absent (low risk).
Parkinson's Disease Links
- Paisan-Ruiz C, Washecka N, Nath P, Singleton AB, Corder EH. Parkinson's Disease and Low Frequency Alleles found together throughout LRRK2. Ann Hum Genet 10:1469-1809, 2009. A copy can be requested on the 'Contact Us' page.