LRRK2
Leucine-rich repeat kinase 2
Gene Number: 120892
Location: 12q12
Key Functions: Neuronal signaling regulation, vesicle trafficking, cytoskeletal dynamics, neurodegeneration susceptibility
LRRK2 encodes leucine-rich repeat kinase 2, a multifunctional protein that regulates key neuronal processes including intracellular signaling, vesicle trafficking, and cytoskeletal organization. It is essential for maintaining neuronal integrity and supporting cellular stress responses.
Mutations in LRRK2 are among the most common genetic causes of Parkinson’s disease, contributing to neurodegeneration through altered kinase activity and impaired neuronal maintenance.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs34637584 | No matching variant or no valid DNA data | A | No interpretation available |
rs33995883 | No matching variant or no valid DNA data | G | No interpretation available |
rs34637584 (G2019S)
GG – Normal risk; most common genotype (R).
AG – Significantly increased risk of Parkinson’s disease (PD), with age-dependent penetrance: approximately 28% by age 59, 51% by age 69, and 74% by age 79 (R).
AA – Very high risk, though rare; similar penetrance patterns as AG (R).
Functional effect: The A allele (G2019S) is a pathogenic gain-of-function variant that increases LRRK2 kinase activity and is a major genetic contributor to autosomal-dominant PD, particularly in Ashkenazi Jewish and North African populations.
rs33995883 (N2081D)
AA – Normal risk for Parkinson’s disease and Crohn’s disease; common genotype (R).
AG – ~1.8× increased risk of Crohn’s disease (R).
GG – Likely benign with respect to PD; no clear evidence of increased PD risk (R).
Functional effect: The G allele (N2081D) is considered benign regarding PD but may modestly elevate risk for Crohn’s disease; functional data are limited and risk appears to be context-specific.
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