Abstract
TMEM230 has been associated with autosomal dominant Parkinson's disease (PD). Subsequent studies have remained negative, and none of previous described mutation has been reported anymore. We investigated the implication of this gene in the PD in a population of 703 PD patients and 695 unrelated healthy controls from southern Spain. Thirteen variants were found, twelve of them observed only in controls or in patients and controls, and one (c.190A>G) observed only in one patient. Subsequent analysis of this variant indicates that probably it is not pathogenic. In addition, we found a variation in the 3'-UTR (rs183551373) and related with the miRNA hsa-miR-4299 but it was observed only in healthy controls. Our results suggest that variants in TMEM230 gene are not associated with the development of PD.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Female
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Genetic Association Studies
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Genetic Variation
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Humans
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Incidence
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Male
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Membrane Proteins / genetics*
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MicroRNAs / genetics
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Middle Aged
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Parkinson Disease / epidemiology
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Parkinson Disease / genetics*
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Spain / epidemiology
Substances
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MIR4299 microRNA, human
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Membrane Proteins
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MicroRNAs
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TMEM230 protein, human
Grants and funding
This study was supported by grants from the Spanish Ministry of Economy and Competitiveness [PI14/01823 to Pilar Gómez-Garre, PI16/01575 to Pablo Mir] co-founded by the Instituto de Salud Carlos-III (ISCIII) and by Fondo Europeo de Desarrollo Regional (FEDER), the Consejería de Economía, Innovación, Ciencia y Empleo de la Junta de Andalucía [CVI-02526, CTS-7685], the Consejería de Salud y Bienestar Social de la Junta de Andalucía [ PI-0437-2012, PI-0471-2013], the Sociedad Andaluza de Neurología to Pablo Mir, the Jacques and Gloria Gossweiler Foundation to Pablo Mir, the Fundación Alicia Koplowitz to Pablo Mir, and the Fundación Mutua Madrileña. Pilar Gómez-Garre was supported by the "Miguel Servet" (from ISCIII-FEDER) and “Nicolás Monardes” (from Andalusian Ministry of Health) programmes. Silvia Jesús was supported by the "Juan Rodés" programme (from ISCIII-FEDER). Cristina Tejera-Parrado was supported by VPPI-US from the Universidad de Sevilla. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.