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Article type: Research Article
Authors: Sadhukhan, Tamal | Vishal, Mansi | Das, Gautami | Sharma, Aanchal | Mukhopadhyay, Arijit | Das, Shyamal K | Ray, Kunal | Ray, Jharna
Affiliations: S. N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, India | Molecular and Human Genetics Division, CSIR-Indian Institute of Chemical Biology, Kolkata, India | Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi | Movement Disorders Clinic, Bangur Institute of Neurosciences, Kolkata, India
Note: [] Dr. Kunal Ray, Molecular & Human Genetics Division, CSIR-Indian Institute of Chemical Biology, 4 Raja S. C. Mullick Road, Kolkata – 700 032, India. Tel.: +91 33 2483 1984; Fax: +91 33 2473 5197; E-mail: kunalray@gmail.com, kray@iicb.res.in; Prof. Jharna Ray, S. N. Pradhan Centre for Neurosciences, University of Calcutta, 35, Ballygunge Circular Road, Kolkata – 700 019, India. Tel.: +91 33 2223 2084; Fax: +91 33 2223 3260; E-mail: jharnaray@gmail.com, thisisjr@rediffmail.com
Abstract: 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.
Keywords: Haplotype, LRRK2, mutation, Parkinson's disease, SNP
DOI: 10.3233/DMA-2012-0898
Journal: Disease Markers, vol. 32, no. 6, pp. 355-362, 2012
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