ABSTRACT
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® 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.Recent studies have linked certain single nucleotide polymorphisms (SNPs) in the LRRK2 gene with familial and sporadic Parkinson’s disease (PD). Interestingly, there appear to be important population differences in the contribution of these SNPs to the risk of PD occurrence. The G2019S variant is very common amongst Ashkenazi Jews and African Arabs with PD, but it is undetectable in Asian populations. On the other hand, in Asians and in particular, the Han Chinese, the G2385R and R1628P variants have been consistently identified as important risk factors.
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