The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients |
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Authors: | Tan E K Shen H Tan L C S Farrer M Yew K Chua E Jamora R D Puvan K Puong K Y Zhao Y Pavanni R Wong M C Yih Yuen Skipper L Liu Jian-Jun |
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Affiliation: | Department of Neurology, Clinical Research and Health Screening, Singapore General Hospital, Outram Road, Singapore. gnrtek@sgh.com.sg |
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Abstract: | A common heterozygous leucine-rich repeat kinase 2 (LRRK2) mutation 6055G > A transition (G2019S) accounts for about 3-7% of familial Parkinson's disease (PD) and 1-1.6% sporadic PD in a number of European populations. To determine the prevalence of the G1019S mutation in our Asian population, we conducted genetic analysis of this mutation in 1000 PD and healthy controls. The G2019S mutation was not detected in any of our study subjects. The prevalence of G2019S mutation is rare (< 0.1%) in our population, suggesting that occurrence of this mutation may vary amongst different ethnic races. This has important clinical implication when implementing guidelines for genetic testing. |
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