A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis

BJ Gu; J Field; S Dutertre; A Ou; TJ Kilpatrick; J Lechner-Scott; R Scott; R Lea; BV Taylor; J Stankovich; H Butzkueven; M Gresle; SM Laws; S Petrou; S Hoffjan; DA Akkad; CA Graham; S Hawkins; A Glaser; SK Bedri; J Hillert; C Matute; A Antiguedad; JS Wiley; AG Baxter; AG Kermode; DR Booth; DF Mason; GJ Stewart; JC Charlesworth; L Tajouri; LR Griffiths; M Slee; MA Brown; P Moscato; SA Broadley; S Vucic; WM Carrol; MH Barnett

Journal article

A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis

BJ Gu, J Field, S Dutertre, A Ou, TJ Kilpatrick, J Lechner-Scott, R Scott, R Lea, BV Taylor, J Stankovich, H Butzkueven, M Gresle, SM Laws, S Petrou, S Hoffjan, DA Akkad, CA Graham, S Hawkins, A Glaser, SK Bedri Show all

Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2015

DOI: 10.1093/hmg/ddv278

Abstract

Multiple sclerosis (MS) is a chronic relapsing-remitting inflammatory disease of the central nervous system characterized by oligodendrocyte damage, demyelination and neuronal death. Genetic association studies have shown a 2-fold or greater prevalence of the HLA-DRB1*1501 allele in the MS population compared with normal Caucasians. In discovery cohorts of Australasian patients with MS (total 2941 patients and 3008 controls), we examined the associations of 12 functional polymorphisms of P2X7, a microglial/macrophage receptor with proinflammatory effects when activated by extracellular adenosine triphosphate (ATP). In discovery cohorts, rs28360457, coding for Arg307Gln was associated with MS..

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University of Melbourne Researchers

Judith Field Author

Trevor Kilpatrick Author

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Grants

Awarded by National Health and Medical Research Council of Australia

Funding Acknowledgements

This work was supported by grants from the National Health and Medical Research Council of Australia (project grants 633275, 1048082) and the Victorian Government's Operational Infrastructure Support Program.