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DC Field | Value | Language |
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dc.date.accessioned | 2017-03-07T07:42:43Z | - |
dc.date.available | 2017-03-07T07:42:43Z | - |
dc.date.issued | 2015 | - |
dc.identifier.citation | Camilleri, S., Camilleri, G., Bezzina Wettinger, S.,& Farrugia, R. (2015). A novel mutation in LRRK2 influences risk for Parkinson disease in the Maltese population. The European Human Genetics Conference 2015. Glasgow. 1. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar//handle/123456789/17111 | - |
dc.description.abstract | Introduction: LRRK2 encodes Leucine-rich repeat kinase 2, one of the most common known autosomal dominant genetic causes of Parkinson disease (PD). Individuals with mutations in LRRK2 present with a phenotype and pathology similar to idiopathic, late onset PD. A number of mutations have been identified in this gene, however, the pathogenic nature of most mutations remains unclear. Materials and Methods: Next generation sequencing data from healthy individuals was mined for LRRK2 mutations present in the Maltese. A novel mutation (N618S) was identified and genotyped by PCR and RFLP in a PD case-control collection; 73 cases and 136 control samples from Malta collected as part of the Geoparkinson project. Odds Ratio (OR) with 95% confidence interval (CI) was determined using logistic regression. Results: The novel mutation identified was in exon 16 of LRRK2. The A>G change at c.1853 gives rise to a missense mutation: N618S. Minor allele frequency was found to be 0.03 in controls (n=136) and 0.06 in cases (n=73), giving an OR of 2.17 (95%CI: 0.82 - 5.74). Conclusions: The novel N618S mutation appears to increase risk for PD in the Maltese. Funding sources for this study: Data and samples were collected as part of the 5th framework (FP5) EU funded Geoparkinson study, project number QLK4‐CT‐1999‐01133. This work was supported by the MASTER it! Program (Malta); this scheme is co-funded by the ESF under Operational Program II-Cohesion Policy 2007-2013. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | European Society for Human Genetics | en_GB |
dc.rights | info:eu-repo/semantics/closedAccess | en_GB |
dc.subject | Parkinson's disease | en_GB |
dc.subject | Protein kinases | en_GB |
dc.title | A novel mutation in LRRK2 influences risk for Parkinson disease in the Maltese population | en_GB |
dc.type | conferenceObject | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.bibliographicCitation.conferencename | The European Human Genetics Conference 2015 | en_GB |
dc.bibliographicCitation.conferenceplace | Glasgow, Scotland, UK, 6-9/06/2015 | en_GB |
dc.description.reviewed | non peer-reviewed | en_GB |
dc.contributor.creator | Camilleri, G. | - |
dc.contributor.creator | Bezzina Wettinger, Stephanie | - |
dc.contributor.creator | Farrugia, Rosienne | - |
dc.contributor.creator | Camilleri, Simon | - |
Appears in Collections: | Scholarly Works - FacM&SPB |
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A novel mutation in LRRK2 influences risk for Parkinson Disease (1).pdf Restricted Access | 180.6 kB | Adobe PDF | View/Open Request a copy |
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