Genetic analysis of CHCHD2 in a southern Spanish population

Cristina Tejera-Parrado, Silvia Jesús, Ismael Huertas-Fernández, Inmaculada Bernal-Bernal, Marta Bonilla-Toribio, Isabel Córdoba-Tevar, Irene Abreu-Rodríguez, Fátima Carrillo, Maravilla Bernal-Escudero, Laura Vargas-González, Manuel Carballo, Pilar Gómez-Garre, Pablo Mir

Researching genetic factors involved in Parkinson's disease (PD) is crucial to increase our knowledge about the pathophysiology of the disorder. A missense mutation has recently been reported within CHCHD2, a gene newly associated with autosomal dominant PD. Subsequent studies in different ethnic populations have not reached any conclusive result about the role of CHCHD2 in PD. Therefore, the aim of this study was to investigate the implication of this gene for a PD population from southern Spain (including 536 PD patients and 518 unrelated control subjects). We studied all 4 exons of CHCHD2 and their exon-intron boundary regions. Four variants were observed in non-coding regions. No significant differences were observed in the allele frequencies of these variants between patients and controls. Thus, our study suggests that CHCHD2 is probably not involved in the etiopathogenesis of PD in our population.