LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan

Parkinson's Disease
Rauan KaiyrzhanovHenry Houlden

Abstract

LRRK2 mutations have emerged as the most prevalent and potentially treatable determinants of Parkinson's disease (PD). Peculiar geographic distribution of these mutations has triggered an interest in genotyping PD cohorts of different ethnic backgrounds for LRRK. Here, we report on the results of LRRK2 screening in the first Central Asian PD cohort. 246 PD patients were consecutively recruited by movement disorder specialists from four medical centers in Kazakhstan, and clinicodemographic data and genomic DNA from blood were systematically obtained and shipped to the Institute of Neurology University College London together with DNAs from 200 healthy controls. The cohort was genotyped for five LRRK2 mutations (p.Gly2019Ser, p.Arg1441His, p.Tyr1699Cys, p.Ile2020Thr, and p.Asn1437His) and three East Asian disease-associated variants (p.Gly2385Arg, p.Ala419Val, and p.Arg1628Pro) via Kompetitive allele-specific polymerase chain reaction assay analysis. None of the study subjects carried LRRK2 mutations, whereas the following Asian variants were found with insignificant odds ratios (OR): p.Gly2385Arg (1.2%, minor allele frequency (MAF) 0.007, OR 1.25, p=0.8), p.Ala419Val (3.7%, MAF 0.02, OR 1.5, p=0.8), p.Ala419Val (3.7%, MAF 0.02, ...Continue Reading

References

Sep 21, 2005·Neurogenetics·Ignacio F MataMatthew J Farrer
Nov 5, 2005·Proceedings of the National Academy of Sciences of the United States of America·Andrew B WestTed M Dawson
Jan 27, 2006·Annals of Neurology·Benoit I GiassonVivianna M Van Deerlin
Apr 18, 2006·Trends in Neurosciences·Ignacio F MataKathleen A Gallo
Sep 13, 2006·Archives of Neurology·Anthony H V Schapira
Oct 18, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Sofya N PchelinaAlexander L Schwarzman
Jan 16, 2007·Parkinsonism & Related Disorders·Matthew J FarrerRuey-Meei Wu
Jul 31, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Eng-King TanJian-Jun Liu
Jan 19, 2008·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·X-K AnZ-J Zhang
Apr 4, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Cyrus P ZabetianHideshi Kawakami
Apr 9, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Seyedmehdi ShojaeeElahe Elahi
Aug 20, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Barbara Jasinska-MygaMatthew J Farrer
Nov 9, 2010·Communicative & Integrative Biology·Loukia Parisiadou, Huaibin Cai
Sep 3, 2011·Lancet Neurology·Owen A RossUNKNOWN Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium
Mar 16, 2012·Neurobiology of Aging·Nan-Nan LiRong Peng
Aug 6, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Michael G HeckmanUNKNOWN Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
Sep 23, 2014·BioMed Research International·Aroma Agape GopalaiAzlina Ahmad-Annuar
Oct 17, 2015·Movement Disorders : Official Journal of the Movement Disorder Society·Ronald B PostumaGünther Deuschl
Apr 4, 2018·Plant Methods·Chiara BroccanelloPiergiorgio Stevanato

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Citations

Apr 6, 2021·Molecular Genetics & Genomic Medicine·Rauan KaiyrzhanovHenry Houlden

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Methods Mentioned

BETA
genotyping
PCR
exome sequencing
MDS

Software Mentioned

SNP viewer
SPSPS
Ensembl genome browser

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