Lack of association between the LRRK2 A419V variant and Asian Parkinson's disease.

ANNALS ACADEMY OF MEDICINE SINGAPORE(2013)

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摘要
Introduction: The G2385R and R1628P LRRK2 gene variants have been associated with an increased risk of Parkinson's disease (PD) in the Asian population. Recently, a new LRRK2 gene variant, A419V, was reported to be a third risk variant for PD in Asian patients. Our objective was to investigate this finding in our cohort of Asian subjects. Materials and Methods: Eight hundred and twenty-eight subjects (404 PD patients, and 424 age and gender-matched control subjects without neurological disorders) were recruited. Genotyping was done by Taqman (R) allelic discrimination assay on an Applied Biosystems 7500 Fast Real-Time PCR machine. Results: The heterozygous A419V genotype was found in only 1 patient with PD, compared to 3 in the control group (0.4% vs 1.3%), giving an odds ratio of 0.35 (95% confidence interval (CI), 0.01 to 3.79; P = 0.624). Conclusion: A419V is not an important LRRK2 risk variant in our Asian cohort of patients with PD. Our data are further supported by a literature review which showed that 4 out of 6 published studies reported a negative association of this variant in PD.
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关键词
Asian,A419V,Genetics,LRRK2,Parkinson's disease
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