Murdoch University Research Repository

Welcome to the Murdoch University Research Repository

The Murdoch University Research Repository is an open access digital collection of research
created by Murdoch University staff, researchers and postgraduate students.

Learn more

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

Goris, A., van Setten, J., Diekstra, F., Ripke, S., Patsopoulos, N.A., Sawcer, S.J., van Es, M., Andersen, P.M., Melki, J., Meininger, V., Hardiman, O., Landers, J.E., Brown, R.H., Shatunov, A., Leigh, N., Al-Chalabi, A., Shaw, C.E., Traynor, B.J., Chio, A., Restagno, G., Mora, G., Ophoff, R.A., Oksenberg, J.R., Van Damme, P., Compston, A., Robberecht, W., Dubois, B., van den Berg, L.H., De Jager, P.L., Veldink, J.H., de Bakker, P.I.W. and Kermode, A.G. (2014) No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Human Molecular Genetics, 23 (7). pp. 1916-1922.

Free to read:
*No subscription required


Genome-wide association studies have been successful in identifying common variants that influence the susceptibility to complex diseases. From these studies, it has emerged that there is substantial overlap in susceptibility loci between diseases. In line with those findings, we hypothesized that shared genetic pathways may exist between multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS). While both diseases may have inflammatory and neurodegenerative features, epidemiological studies have indicated an increased co-occurrence within individuals and families. To this purpose, we combined genome-wide data from 4088 MS patients, 3762 ALS patients and 12 030 healthy control individuals in whom 5 440 446 single-nucleotide polymorphisms (SNPs) were successfully genotyped or imputed. We tested these SNPs for the excess association shared between MS and ALS and also explored whether polygenic models of SNPs below genome-wide significance could explain some of the observed trait variance between diseases. Genome-wide association meta-analysis of SNPs as well as polygenic analyses fails to provide evidence in favor of an overlap in genetic susceptibility between MS and ALS. Hence, our findings do not support a shared genetic background of common risk variants in MS and ALS.

Item Type: Journal Article
Publisher: Oxford University Press
Copyright: © The Author 2013.
Item Control Page Item Control Page