Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease
Fulya Akçimen, Sandra Martins, Calwing Liao, Cynthia V. Bourassa, Hélène Catoire, Garth A. Nicholson, Olaf Rieß, Mafalda Raposo, Marcondes C. França, João Vasconcelos, Manuela Lima, Íscia Lopes‐Cendes, Maria Luiza Saraiva Pereira, Laura Bannach Jardim, Jorge Sequeiros, Patrick A. Dion, Guy A. Rouleau
Abstract
genes suggests that DNA repair mechanisms might be implicated in MJD pathogenesis. Our study demonstrates the existence of several additional genetic factors, along with CAG expansion, that may lead to a better understanding of the genotype-phenotype correlation in MJD.
Topics & Concepts
Machado–Joseph diseaseGeneticsBiologyGenome-wide association studyGenetic associationGeneGenotypeDiseasePhenotypeSpinocerebellar ataxiaSingle-nucleotide polymorphismMedicineInternal medicineGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyDNA Repair Mechanisms