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Evaluation of the Role of LRRK2 Gene in Parkinson’s Disease in an East Indian Cohort

Leucine rich repeat kinase 2 (LRRK2) gene defects cause Parkinson's disease (PD). Recently, LRRK2 has also been shown by genome wide association (GWA) studies to be a susceptibility gene for the disease. In India mutations in LRRK2 is a rare cause of PD. We, therefore, genotyped 64 SNPs across...

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Autores principales: Sadhukhan, Tamal, Vishal, Mansi, Das, Gautami, Sharma, Aanchal, Mukhopadhyay, Arijit, Das, Shyamal K, Ray, Kunal, Ray, Jharna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826742/
https://www.ncbi.nlm.nih.gov/pubmed/22684232
http://dx.doi.org/10.3233/DMA-2012-0898
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author Sadhukhan, Tamal
Vishal, Mansi
Das, Gautami
Sharma, Aanchal
Mukhopadhyay, Arijit
Das, Shyamal K
Ray, Kunal
Ray, Jharna
author_facet Sadhukhan, Tamal
Vishal, Mansi
Das, Gautami
Sharma, Aanchal
Mukhopadhyay, Arijit
Das, Shyamal K
Ray, Kunal
Ray, Jharna
author_sort Sadhukhan, Tamal
collection PubMed
description Leucine rich repeat kinase 2 (LRRK2) gene defects cause Parkinson's disease (PD). Recently, LRRK2 has also been shown by genome wide association (GWA) studies to be a susceptibility gene for the disease. In India mutations in LRRK2 is a rare cause of PD. We, therefore, genotyped 64 SNPs across LRRK2 in 161 control samples and finally studied 6 haplotype tagging SNPs for association-based study on 300 cases and 446 ethnically matched controls to explore the potential role of LRRK2 as a susceptibility gene in PD for East Indians. We did not find any significant allele/ genotype or haplotype associations with PD suggesting that common genetic variants within LRRK2 play limited role in modulating PD among East Indians. In addition, we also screened for the common mutations (viz. p.R1441C, p.R1441G, p.R1441H, p.Y1699C, p.G2019S), and a risk variant common among Asians (p.G2385R) but did not observe any of the above mentioned variants in our cohort. Our study, therefore, strongly suggests that LRRK2 has minimal role as a candidate and susceptibility gene in PD pathogenesis among East Indians.
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spelling pubmed-38267422013-12-04 Evaluation of the Role of LRRK2 Gene in Parkinson’s Disease in an East Indian Cohort Sadhukhan, Tamal Vishal, Mansi Das, Gautami Sharma, Aanchal Mukhopadhyay, Arijit Das, Shyamal K Ray, Kunal Ray, Jharna Dis Markers Other Leucine rich repeat kinase 2 (LRRK2) gene defects cause Parkinson's disease (PD). Recently, LRRK2 has also been shown by genome wide association (GWA) studies to be a susceptibility gene for the disease. In India mutations in LRRK2 is a rare cause of PD. We, therefore, genotyped 64 SNPs across LRRK2 in 161 control samples and finally studied 6 haplotype tagging SNPs for association-based study on 300 cases and 446 ethnically matched controls to explore the potential role of LRRK2 as a susceptibility gene in PD for East Indians. We did not find any significant allele/ genotype or haplotype associations with PD suggesting that common genetic variants within LRRK2 play limited role in modulating PD among East Indians. In addition, we also screened for the common mutations (viz. p.R1441C, p.R1441G, p.R1441H, p.Y1699C, p.G2019S), and a risk variant common among Asians (p.G2385R) but did not observe any of the above mentioned variants in our cohort. Our study, therefore, strongly suggests that LRRK2 has minimal role as a candidate and susceptibility gene in PD pathogenesis among East Indians. IOS Press 2012 2012-06-06 /pmc/articles/PMC3826742/ /pubmed/22684232 http://dx.doi.org/10.3233/DMA-2012-0898 Text en Copyright © 2012 Hindawi Publishing Corporation.
spellingShingle Other
Sadhukhan, Tamal
Vishal, Mansi
Das, Gautami
Sharma, Aanchal
Mukhopadhyay, Arijit
Das, Shyamal K
Ray, Kunal
Ray, Jharna
Evaluation of the Role of LRRK2 Gene in Parkinson’s Disease in an East Indian Cohort
title Evaluation of the Role of LRRK2 Gene in Parkinson’s Disease in an East Indian Cohort
title_full Evaluation of the Role of LRRK2 Gene in Parkinson’s Disease in an East Indian Cohort
title_fullStr Evaluation of the Role of LRRK2 Gene in Parkinson’s Disease in an East Indian Cohort
title_full_unstemmed Evaluation of the Role of LRRK2 Gene in Parkinson’s Disease in an East Indian Cohort
title_short Evaluation of the Role of LRRK2 Gene in Parkinson’s Disease in an East Indian Cohort
title_sort evaluation of the role of lrrk2 gene in parkinson’s disease in an east indian cohort
topic Other
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826742/
https://www.ncbi.nlm.nih.gov/pubmed/22684232
http://dx.doi.org/10.3233/DMA-2012-0898
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