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


Goris, A and van Setten, J and Diekstra, F and Ripke, S and Patsopoulos, NA and Sawcer, SJ and Barcellos, L and Booth, D and McCauley, JL and Comabella, M and D'Alfonso, SD and Fontaine, B and Hafler, D and Haines, J and Harbo, HF and Hauser, SL and Hawkins, C and Hemmer, B and Hillert, J and Ivinson, A and Kockum, I and Martin, R and Boneschi, FM and Olsson, T and Oturai, A and Pericak-Vance, M and Saarela, J and Spurkland, A and Stewart, G and Zipp, F and van Es, M and Scott, RJ and Lechner-Scott, J and Moscato, P and Heard, RN and Mason, D and Griffiths, L and Broadley, S and Brown, MA and Slee, M and Foote, SJ and Stankovich, J and Taylor, BV and Wiley, J and Bahlo, M and Perreau, V and Field, J and Butzkueven, H and Kilpatrick, TJ and Rubio, J and Marriott, M and Carroll, WM and Kermode, AG and Andersen, PM and Melki, J and Meininger, V and Hardiman, O and Landers, JE and Brown Jr, RH and Shatunov, A and Leigh, N and Al-Chalabi, A and Shaw, CE and Traynor, BJ and Chio, A and Restagno, G and Mora, G and Ophoff, RA and Oksenberg, JR and Van Damme, P and Compston, A and Robberecht, W and Dubois, B and van den Berg, LH and De Jager, PL and Veldink, JH and de Bakker, PI, No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis, Human Molecular Genetics, 23, (7) pp. 1916-1922. ISSN 0964-6906 (2014) [Refereed Article]

Copyright Statement

copyright 2013 the authors

DOI: doi:10.1093/hmg/ddt574


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 Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Central nervous system
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Foote, SJ (Professor Simon Foote)
UTAS Author:Stankovich, J (Dr Jim Stankovich)
UTAS Author:Taylor, BV (Professor Bruce Taylor)
ID Code:88509
Year Published:2014 (online first 2013)
Web of Science® Times Cited:18
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-02-05
Last Modified:2021-01-04
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