1.Lack of association between the LRRK2 A419V variant and Asian Parkinson's disease.
Aroma Agape GOPALAI ; Shen Yang LIM ; Zariah Abdul AZIZ ; Soo Kun LIM ; Li Ping TAN ; Yip Boon CHONG ; Chong Tin TAN ; Santhi PUVANARAJAH ; Shanti VISWANATHAN ; Rishikesan KUPPUSAMY ; Ai Huey TAN ; Thien Thien LIM ; Gaik Bee EOW ; Mohamed Ibrahim NORLINAH ; Hui Hua LI ; Yi ZHAO ; Azlina AHMAD-ANNUAR
Annals of the Academy of Medicine, Singapore 2013;42(5):237-240
INTRODUCTIONThe 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 METHODSEight 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.
RESULTSThe 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).
CONCLUSIONA419V 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.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alanine ; genetics ; Case-Control Studies ; China ; ethnology ; Cohort Studies ; Cytosine ; Female ; Gene Frequency ; Genetic Variation ; genetics ; Genotype ; Heterozygote ; Humans ; India ; ethnology ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; Malaysia ; ethnology ; Male ; Middle Aged ; Parkinson Disease ; genetics ; Polymorphism, Genetic ; genetics ; Protein-Serine-Threonine Kinases ; genetics ; Risk Factors ; Singapore ; Thymine ; Valine ; genetics ; Young Adult