NDLI: The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population

Content Provider	Springer Nature Link
Author	Lu, Chin Song Wu Chou, Yah Huei Doeselaar, Marina Simons, Erik J. Chang, Hsiu Chen Breedveld, Guido J. Fonzo, Alessio Chen, Rou Shayn Weng, Yi Hsin Lai, Szu Chia Oostra, Ben A. Bonifati, Vincenzo
Copyright Year	2008
Abstract	The c.G4883C variant in the leucine-rich repeat kinase 2 (LRRK2) gene (protein effect: Arg1628Pro) has been recently proposed as a second risk factor for sporadic Parkinson’s disease in the Han Chinese population (after the Gly2385Arg variant). In this paper, we analyze the Arg1628Pro variant and the associated haplotype in a large sample of 1,337 Han subjects (834 patients and 543 controls) ascertained from a single referral center in Taiwan. In our sample, the Arg1628Pro allele was more frequent among patients (3.8%) than among controls (1.8%; p = 0.004, OR 2.13, 95% CI 1.29–3.52). Sixty heterozygous and two homozygous carriers of the Arg1628Pro variant were identified among the patients, of which only one was also a carrier of the LRRK2 Gly2385Arg variant. We also show that carriers of the Arg1628Pro variant share a common, extended haplotype, suggesting a founder effect. Parkinson’s disease onset age was similar in patients who carried the Arg1628Pro variant and in those who did not carry it. Our data support the contention that the Arg1628Pro variant is a second risk factor for Parkinson’s disease in the Han Chinese population. Adding the estimated effects of Arg1628Pro (population attributable risk [PAR] ~4%) and Gly2385Arg variants (PAR ~6%) yields a total PAR of ~10%.
Starting Page	271
Ending Page	276
Page Count	6
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	9
Issue Number	4
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2008-08-21
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Parkinson’s disease Genetics LRRK2 Association Risk allele Molecular Medicine Human Genetics Neurosciences
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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