The LRRK2 R1628P Variant Plays a Protective Role in Han Chinese Population with Alzheimer's Disease. (20th February 2013)

• Record Type: Journal Article
• Authors: Li, Hong‐Lei; Lu, Shen‐Ji; Sun, Yi‐Min; Guo, Qi‐Hao; Sadovnick, Adele Dessa; Wu, Zhi‐Ying
• Is Part Of: CNS neuroscience & therapeutics. Volume 19:Number 4(2013)
• Page Start: 207
• Page End: 215
• Publication Date: 2013-02-20
• Subjects: Neuropharmacology -- Periodicals; Central nervous system -- Diseases -- Effect of drugs on -- Periodicals; 612.8
• DOI: 10.1111/cns.12062
• Languages: English
• ISSNs: 1755-5930

Abstract

<abstract abstract-type="main" xml:lang="en" id="cns12062-abs-0001"> <title>Summary</title> <sec id="cns12062-sec-0001" sec-type="section"> <title>Aims</title> <p>Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent neurodegenerative disorders that may share some overlapping etiologies. Mutations within leucine‐rich repeat kinase 2 (<italic>LRRK2</italic>) have been reported to be responsible for PD, and the location of <italic>LRRK2</italic> is within a linkage peak for sporadic AD (SAD). The aim of this study was to investigate two Asian‐specific <italic>LRRK2</italic> variants, R1628P and G2385R, with the association of Han Chinese SAD.</p> </sec> <sec id="cns12062-sec-0002" sec-type="section"> <title>Methods</title> <p>Genotyping of R1628P and G2385R was performed by PCR‐restriction fragment length polymorphism (RFLP) analysis in 390 patients with SAD and 545 unrelated age‐ and sex‐matched healthy controls.</p> </sec> <sec id="cns12062-sec-0003" sec-type="section"> <title>Results</title> <p>The frequency of the C allele within R1628P was more than three times higher in control group (1.7%) than in patients with SAD (0.5%) (OR 0.264; 95% CI, 0.088–0.792, <italic>P</italic> = 0.018). After stratification by the presence of one or two apolipoprotein E ε4 alleles, the protective effect becomes stronger (ε44: OR 0.028; 95% CI, 0.003–0.303, <italic>P</italic> = 0.003; ε4: OR 0.104; 95% CI, 0.013–0.818, <italic>P</italic> = 0.031). However, no difference was found in G2385R variant.</p> </sec> <sec id="cns12062-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Our study suggested that R1628P variant within <italic>LRRK2</italic> plays a protective role in Han Chinese population with SAD and such effect has an interaction with the <italic>APOE</italic> genotype.</p> </sec> </abstract>