Identity-by-Descent Mapping to Detect Rare Variants Conferring Susceptibility to Multiple Sclerosis

R Lin; J Charlesworth; J Stankovich; VM Perreau; MA Brown; A Baxter; A Kermode; M Bahlo; W Carroll; H Butzkueven; D Booth; G Stewart; J Wiley; J Field; L Tajouri; L Griffiths; M Barnett; P Moscato; R Heard; R Scott; S McColl; S Foote; S Broadley; M Slee; S Vucic; T Kilpatrick; BV Taylor

Journal article

Identity-by-Descent Mapping to Detect Rare Variants Conferring Susceptibility to Multiple Sclerosis

R Lin, J Charlesworth, J Stankovich, VM Perreau, MA Brown, A Baxter, A Kermode, M Bahlo, W Carroll, H Butzkueven, D Booth, G Stewart, J Wiley, J Field, L Tajouri, L Griffiths, M Barnett, P Moscato, R Heard, R Scott Show all

Plos One | PUBLIC LIBRARY SCIENCE | Published : 2013

DOI: 10.1371/journal.pone.0056379

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Abstract

Genome-wide association studies (GWAS) have identified around 60 common variants associated with multiple sclerosis (MS), but these loci only explain a fraction of the heritability of MS. Some missing heritability may be caused by rare variants that have been suggested to play an important role in the aetiology of complex diseases such as MS. However current genetic and statistical methods for detecting rare variants are expensive and time consuming. 'Population-based linkage analysis' (PBLA) or so called identity-by-descent (IBD) mapping is a novel way to detect rare variants in extant GWAS datasets. We employed BEAGLE fastIBD to search for rare MS variants utilising IBD mapping in a large ..

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University of Melbourne Researchers

Vicky Perreau Author

Melanie Bahlo Author

Judith Field Author

Trevor Kilpatrick Author

Related Projects (3)

INTERROGATION OF TWO NOVEL GENETIC SUSCEPTIBILITY LOCI FOR MULTIPLE SCLEROSIS

This proposal, from the Australia and New Zealand multiple sclerosis (MS) Genetics Consortium, aims to interrogate two new genes that it rec..

INTERROGATION OF TWO NOVEL GENETIC SUSCEPTIBILITY LOCI FOR MULTIPLE SCLEROSIS

This proposal, from the Australia and New Zealand multiple sclerosis (MS) Genetics Consortium, aims to interrogate two new genes that it rec..

NON-LEAD GRANT W/ MENZIES INST: IDENTIFYING RARE GENETIC VARIANTS CONFERRING SUSCEPTIBILITY TO MULTIPLE SCLEROSIS

Recently there has been success in identifying common genetic variants that confer susceptibility to multiple sclerosis. The variants that h..

Grants

Awarded by Australian Research Council

Funding Acknowledgements

This work was supported by the National Health and Medical Research Council (NHMRC, Australia) [Project 605511]; and the Australian Research Council [LP110100473]. MAB was supported by an NHMRC Senior Principal Research Fellowship. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.