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Annals of the Academy of Medicine, Singapore ; : 237-240, 2013.
Article Dans Anglais | WPRIM | ID: wpr-305713

Résumé

<p><b>INTRODUCTION</b>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.</p><p><b>MATERIALS AND METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>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.</p>


Sujets)
Adolescent , Adulte , Sujet âgé , Sujet âgé de 80 ans ou plus , Femelle , Humains , Mâle , Adulte d'âge moyen , Jeune adulte , Alanine , Génétique , Études cas-témoins , Chine , Ethnologie , Études de cohortes , Cytosine , Fréquence d'allèle , Variation génétique , Génétique , Génotype , Hétérozygote , Inde , Ethnologie , Leucine-rich repeat serine-threonine protein kinase-2 , Malaisie , Ethnologie , Maladie de Parkinson , Génétique , Polymorphisme génétique , Génétique , Protein-Serine-Threonine Kinases , Génétique , Facteurs de risque , Singapour , Thymine , Valine , Génétique
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