Mutation analysis in PARK2 gene uncovers patterns of associated genetic variants

Luísa Castro, José Luís Oliveira, Raquel M. Silva

Resultado de pesquisarevisão de pares

Resumo

We present a comparative analysis of PARK2 genetic variants based on genotype data from HapMap. We focused our study on the association between missense mutations and all other variations within the same gene to uncover patterns of hidden genetic variation. Alzheimer’s disease (AD) and Parkinson’s disease (PD) are the main neurodegenerative diseases and represent a growing health concern worldwide, with the increase in the elderly population. Mutations in several genes have been associated with either AD or PD, and the number of novel genetic variants characterized is expanding rapidly with the introduction of next generation sequencing technologies. Most of these variants, however, are of unknown consequences as their effect might be mediated through association with additional mutations. Our results show that significant correlation between genetic variants exists and their co-occurrence might contribute to previously unidentified risk increase.
Idioma originalEnglish
Páginas145-152
Número de páginas8
DOIs
Estado da publicaçãoPublicado - 2014
Publicado externamenteSim
Evento8th International Conference on Practical Applications of Computational Biology and Bioinformatics, PACBB 2014 - Salamanca
Duração: 4 jun 20146 jun 2014

Conferência

Conferência8th International Conference on Practical Applications of Computational Biology and Bioinformatics, PACBB 2014
País/TerritórioSpain
CidadeSalamanca
Período4/06/146/06/14

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