Fine mapping the results of a multiple sclerosis whole genome screen for association

Lead Research Organisation: University of Cambridge
Department Name: Clinical Neurosciences

Abstract

Multiple sclerosis is a disease of the brain and spinal cord that affects more than 60,000 people in the UK. After trauma it is the commonest cause for chronic neurological disability in young adults. Although the cause of the disease is unclear it is well known that genetic factors influence susceptibility to the condition. We believe that identifying the relevant genes will provide invaluable information about the nature of the multiple sclerosis, which will ultimately lead to more effective treatments or perhaps even enable us to prevent the disease.
Finding the handful of genes that influence susceptibility to multiple sclerosis is a little like looking for a needle in a haystack; the effects of each relevant gene are modest while the number of potentially relevant genes is large (there are around 30,000 human genes). In the past researchers were only able to look at a few genes at a time and were therefore forced to try and predict which genes were most likely to be relevant, this strategy did not prove to be at all successful. Fortunately advances in technology mean that it is now possible to be considerably more systematic and interrogate many thousands of genes simultaneously. Anticipating that this would become possible the Medical Research Council (MRC) previously funded us to collect DNA from a set of patient volunteers. Using these and other samples we joined the Wellcome Trust Case Control Consortium (WTCCC) and tested 15,430 so called ?single nucleotide polymorphisms (SNPs)? in these samples. An SNP is a change in the genetic code of a gene. These SNPs were carefully chosen and come from all over the genome. As part of the WTCCC team we tested 994 patients and 1,476 controls with these variants, a total of 38 million individual analyses. Comparing cases and controls for each of the SNPs has enabled us to identify 729 showing evidence of potential relevance in multiple sclerosis. It represents a huge effort to get to this stage.
In this proposal we are asking for support to test these 729 short-listed SNPs in a new set of cases (1,000) and controls (1,500) in order to refine the list and finally identify genuinely associated genes. We will then interrogate the most strongly implicated gene in fine detail in a third set of 1,000 trio families (an affected individual and their parents).

Technical Summary

Epidemiological analysis has consistently shown that genetic factors have a profound influence on susceptibility to multiple sclerosis. Association with the class II Human Leukocyte Antigen (HLA) gene DRB1 has been firmly established, and constitutes the largest single effect underlying susceptibility. Systematic screening for linkage has shown that other relevant susceptibility genes are likely to exert only modest individual effects (increasing risk by a factor of no more than 2.0) and will therefore require large association based studies if they are to be identified.
Anticipating this requirement the Medical Research Council (MRC) awarded us a grant to establish a collection of DNA samples from well-characterised patients for use in genetic studies (http://www.dna-network.ac.uk). During the period of this grant we joined the Wellcome Trust Case Control Consortium through which we have been able to type 15,430 non-synonymous SNPs in 994 cases and 1,476 controls (38 million genotypes). As expected the most associated markers come from the Major Histocompatibility Complex (MHC) and have alleles in linkage disequilibrium (LD) with the multiple sclerosis associated DRB1*1501 allele. Excluding these expected MHC hits there are a further 729 markers showing nominally significant evidence for association (p 0.05), including rs6897932 from the IL7R gene, a SNP recently implicated and replicated as relevant in determining susceptibility to multiple sclerosis.
We propose to refine our list of 729 potential associations by extending the typing these variants into a second independent cohort of 1,000 cases and 1,500 controls. This extension analysis will enable us to select out the genuinely associated variants and exclude the false positive associations. We will then intensively interrogate the most strongly implicated gene. Initially we will resequence the gene in 50 cases from multiplex families in order to supplement the publicly available catalogue of variation in the gene. Informative variation from across the gene will then be typed in both original cohorts and an additional third cohort of 1,000 trio families (an affected individual and their parents) in order to construct an association map across the gene. By sharing our discoveries with colleagues from across Europe and the US we will be able to explore how associated variants are distributed between populations. We will also interrogate functional aspects of associated variants.
We believe this work will be extremely informative with regards to the pathogenesis of the disease and will thereby guide future research towards treatment and perhaps even prevention.

Publications

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Title MS genotypes 
Description Genotypes generated from MS DNA samples 
Type Of Material Biological samples 
Year Produced 2007 
Provided To Others? Yes  
Impact Helping to identify new MS risk alleles 
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Broad Institute
Country United States 
Sector Charity/Non Profit 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Catholic University of Louvain
Department Laboratory of Neuroimmunology
Country Belgium 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Charité - University of Medicine Berlin
Country Germany 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Copenhagen University Hospital
Country Denmark 
Sector Hospitals 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Harvard University
Department Harvard Medical School
Country United States 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Karolinska Institute
Country Sweden 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Keele University
Department School of Medicine
Country United Kingdom 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Ludwig Maximilian University of Munich (LMU Munich)
Department Department of Neurology
Country Germany 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Medical University of Lodz
Department Department of Neurology
Country Poland 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation National Institute for Health and Welfare (THL)
Country Finland 
Sector Public 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation National Institute of Health and Medical Research (INSERM)
Department UMR 975 (Research Center of the Institute of the brain and spinal cord (MCBIR))
Country France 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Oslo University Hospital
Department Department of Neurology
Country Norway 
Sector Hospitals 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Plymouth Hospitals NHS Trust
Country United Kingdom 
Sector Public 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Queen's University Belfast
Country United Kingdom 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation San Raffaele Hospital
Department San Raffaele Scientific Institute (SRSI)
Country Italy 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation University Hospital of Wales
Country United Kingdom 
Sector Hospitals 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation University Medical Center Hamburg-Eppendorf
Department Center For Molecular Neurobiology Hamburg
Country Germany 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation University of California, Berkeley
Department School of Public Health Berkeley
Country United States 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation University of Eastern Piedmont
Department Centre for Autoimmune Diseases
Country Italy 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation University of Miami
Department John P. Hussman Institute for Human Genomics
Country United States 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation University of Navarra
Country Spain 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation University of Otago
Department Department of Medicine
Country New Zealand 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation University of Sydney
Department Westmead Milleninium institute
Country Australia 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description International Multiple Sclerosis Genetics Consortium 
Organisation Vanderbilt University
Department Center for Human Genetics Research
Country United States 
Sector Academic/University 
PI Contribution We provide samples and genotypes to collaborative projects. We lead some of these projects and provide intellectual support to others
Collaborator Contribution Samples, genotypes and intellectual inputSamples, genotypes & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, & intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.Samples, genotypes, and intellectual input.
Impact Whole genome screen for linkage (PMID: 16080120) Detailed MHC analysis (PMID: 17252545) Genome-Wide Association screen in MS (PMID: 17660530) Follow up studies (PMID: 18987646, 18565446) Meta-analysis (PMID: 19525953)
 
Description Wellcome Trust Case Control Consortium (WTCCC) 
Organisation The Wellcome Trust Sanger Institute
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution We are one of the primary 11 traits that originally formed this collaboration. We have worked with this group to complete a large genome-wide association study in multiple sclerosis
Collaborator Contribution Completion of genome-wide genotyping in MS samples
Impact The project we completed with the WTCCC the genome to screen the genome using non-synonymous SNPs formed the foundation for this MRC project grant.
 
Description Talk at a school (Simon Langton Grammer, Kent) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Schools
Results and Impact 100 pupils attended the talk as part of their science course. There were questions and discussion afterwards

Pupils were interested by the research
Year(s) Of Engagement Activity 2009