Polymorphisms in the receptor tyrosine kinase MERTK gene are associated with Multiple Sclerosis susceptibility
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Ma, GZM; Stankovich, J; Kilpatrick, TJ; Binder, Michele D.; Field, Judith; Bahlo, Melanie; Booth, David; Broadley, Simon; Brown, M.A.; Browning , BL; Browning, SR; Butzkueven, H; Carroll, WM; Danoy, P; Foote, Simon; Griffiths, Lyn; Heard, RN; Kermode, AG; Lechner-Scott, Jeanette; Moscato, Pablo Alberto; Perreau, Victoria M; Scott, Rodney; Slee, Mark; Stewart, Graeme; Taylor, B V; Wiley, J
Description
Multiple sclerosis (MS) is a debilitating, chronic demyelinating disease of the central nervous system affecting over 2 million people worldwide. The TAM family of receptor tyrosine kinases (TYRO3, AXL and MERTK) have been implicated as important players during demyelination in both animal models of MS and in the human disease. We therefore conducted an association study to identify single nucleotide polymorphisms (SNPs) within genes encoding the TAM receptors and their ligands associated with...[Show more]
dc.contributor.author | Ma, GZM | |
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dc.contributor.author | Stankovich, J | |
dc.contributor.author | Kilpatrick, TJ | |
dc.contributor.author | Binder, Michele D. | |
dc.contributor.author | Field, Judith | |
dc.contributor.author | Bahlo, Melanie | |
dc.contributor.author | Booth, David | |
dc.contributor.author | Broadley, Simon | |
dc.contributor.author | Brown, M.A. | |
dc.contributor.author | Browning , BL | |
dc.contributor.author | Browning, SR | |
dc.contributor.author | Butzkueven, H | |
dc.contributor.author | Carroll, WM | |
dc.contributor.author | Danoy, P | |
dc.contributor.author | Foote, Simon | |
dc.contributor.author | Griffiths, Lyn | |
dc.contributor.author | Heard, RN | |
dc.contributor.author | Kermode, AG | |
dc.contributor.author | Lechner-Scott, Jeanette | |
dc.contributor.author | Moscato, Pablo Alberto | |
dc.contributor.author | Perreau, Victoria M | |
dc.contributor.author | Scott, Rodney | |
dc.contributor.author | Slee, Mark | |
dc.contributor.author | Stewart, Graeme | |
dc.contributor.author | Taylor, B V | |
dc.contributor.author | Wiley, J | |
dc.date.accessioned | 2018-11-29T22:56:08Z | |
dc.date.available | 2018-11-29T22:56:08Z | |
dc.identifier.issn | 1932-6203 | |
dc.identifier.uri | http://hdl.handle.net/1885/153410 | |
dc.description.abstract | Multiple sclerosis (MS) is a debilitating, chronic demyelinating disease of the central nervous system affecting over 2 million people worldwide. The TAM family of receptor tyrosine kinases (TYRO3, AXL and MERTK) have been implicated as important players during demyelination in both animal models of MS and in the human disease. We therefore conducted an association study to identify single nucleotide polymorphisms (SNPs) within genes encoding the TAM receptors and their ligands associated with MS. Analysis of genotype data from a genome-wide association study which consisted of 1618 MS cases and 3413 healthy controls conducted by the Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene) revealed several SNPs within the MERTK gene (Chromosome 2q14.1, Accession Number NG_011607.1) that showed suggestive association with MS. We therefore interrogated 28 SNPs in MERTK in an independent replication cohort of 1140 MS cases and 1140 healthy controls. We found 12 SNPs that replicated, with 7 SNPs showing p-values of less than 10-5 when the discovery and replication cohorts were combined. All 12 replicated SNPs were in strong linkage disequilibrium with each other. In combination, these data suggest the MERTK gene is a novel risk gene for MS susceptibility. | |
dc.format.mimetype | application/pdf | |
dc.publisher | Public Library of Science | |
dc.source | PLOS ONE (Public Library of Science) | |
dc.subject | Keywords: protein AXL; protein MERTK; protein TYRO3; protein tyrosine kinase; tyrosine kinase receptor; unclassified drug; MERTK protein, human; oncoprotein; protein tyrosine kinase; adult; article; Australia; chromosome 2q; cohort analysis; controlled study; femal | |
dc.title | Polymorphisms in the receptor tyrosine kinase MERTK gene are associated with Multiple Sclerosis susceptibility | |
dc.type | Journal article | |
local.description.notes | Imported from ARIES | |
local.identifier.citationvolume | 6 | |
dc.date.issued | 2011 | |
local.identifier.absfor | 110311 - Medical Genetics (excl. Cancer Genetics) | |
local.identifier.absfor | 110707 - Innate Immunity | |
local.identifier.absfor | 111203 - Cancer Genetics | |
local.identifier.ariespublication | a383154xPUB612 | |
local.type.status | Published Version | |
local.contributor.affiliation | Ma, GZM, Florey Neuroscience Institutes, University Melbourne | |
local.contributor.affiliation | Stankovich, J, Menzies Research Institute, University of Tasmania | |
local.contributor.affiliation | Kilpatrick, TJ, University of Melbourne | |
local.contributor.affiliation | Binder, Michele D., The Florey Institute of Neuroscience and Mental Health | |
local.contributor.affiliation | Field, Judith, The Howard Florey Institute, University of Melbourne | |
local.contributor.affiliation | Bahlo, Melanie, Walter and Eliza Hall Institute of Medical Research | |
local.contributor.affiliation | Booth, David, The Westmead Millenium Institute, Westmead NSW | |
local.contributor.affiliation | Broadley, Simon, Griffith University | |
local.contributor.affiliation | Brown, M.A., The University of Queensland | |
local.contributor.affiliation | Browning , BL, University of Washington | |
local.contributor.affiliation | Browning, SR, University of Washington | |
local.contributor.affiliation | Butzkueven, H, University of Melbourne | |
local.contributor.affiliation | Carroll, WM, University of Western Australia | |
local.contributor.affiliation | Danoy, P, University of Queensland Diamantina Institute | |
local.contributor.affiliation | Foote, Simon, College of Health and Medicine, ANU | |
local.contributor.affiliation | Griffiths, Lyn, Griffith University | |
local.contributor.affiliation | Heard, RN, The Westmead Millenium Institute | |
local.contributor.affiliation | Kermode, AG, Sir Charles Gairdner Hospital | |
local.contributor.affiliation | Lechner-Scott, Jeanette, Hunter Medical Research Institute | |
local.contributor.affiliation | Moscato, Pablo Alberto, University of Newcastle | |
local.contributor.affiliation | Perreau, Victoria M, University of Western Australia | |
local.contributor.affiliation | Scott, Rodney, University of Newcastle | |
local.contributor.affiliation | Slee, Mark, Flinders University | |
local.contributor.affiliation | Stewart, Graeme, Westmead Millennium Institute | |
local.contributor.affiliation | Taylor, B V, University of Tasmania, Menzies Research Institute | |
local.contributor.affiliation | Wiley, J, University of Melbourne | |
local.bibliographicCitation.issue | 2 | |
local.bibliographicCitation.startpage | e16964 | |
local.bibliographicCitation.lastpage | e16964 | |
local.identifier.doi | 10.1371/journal.pone.0016964 | |
dc.date.updated | 2018-11-29T08:10:13Z | |
local.identifier.scopusID | 2-s2.0-79951563979 | |
local.identifier.thomsonID | 000287077600037 | |
dcterms.accessRights | Open Access | |
Collections | ANU Research Publications |
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