Sporadic amyotrophic lateral sclerosis is a multifactorial disease of environmental and genetic origin. In a previous large multicenter genome wide study, common genetic variation in the Kinesin-Associated Protein 3 (KIFAP3) gene (rs1541160) was reported to have a significant effect on survival in amyotrophic lateral sclerosis patients. However, this could not be replicated in 3 smaller independent cohorts. We conducted a large multicenter multivariate survival analysis (n = 2362) on the effect of genetic variation in rs1541160. The previously reported beneficial genotype did not show a significant improvement in survival in this patient group.
|Titolo:||Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study|
|Parole Chiave:||Amyotrophic lateral sclerosis; Kinesin-associated protein 3 gene; KIFAP3; Genome-wide association study|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica
|Data di pubblicazione:||2014|
|Digital Object Identifier (DOI):||10.1016/j.neurobiolaging.2014.04.014|
|Appare nelle tipologie:||01 - Articolo su periodico|