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.

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study / P.T. van Doormaal, N. Ticozzi, C. Gellera, A. Ratti, F. Taroni, A. Chiò, A. Calvo, G. Mora, G. Restagno, B.J. Traynor, A. Birve, R. Lemmens, M.A. van Es, C.G. Saris, H.M. Blauw, P.W. van Vught, E.J. Groen, L. Corrado, L. Mazzini, R. Del Bo, S. Corti, S. Waibel, T. Meyer, A.C. Ludolph, A. Goris, P. van Damme, W. Robberecht, A. Shatunov, I. Fogh, P.M. Andersen, S. D'Alfonso, O. Hardiman, S. Cronin, D. Rujescu, A. Al Chalabi, J.E. Landers, V. Silani, L.H. van den Berg, J.H. Veldink. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - 35:10(2014), pp. 2420.e13-2420.e14. [10.1016/j.neurobiolaging.2014.04.014]

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

N. Ticozzi;A. Ratti;R. Del Bo;S. Corti;V. Silani;
2014

Abstract

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.
Amyotrophic lateral sclerosis; Kinesin-associated protein 3 gene; KIFAP3; Genome-wide association study
Settore MED/26 - Neurologia
Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica
NEUROBIOLOGY OF AGING
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/237569
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