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

doi:10.1093/hmg/ddv278

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Article

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

Human molecular genetics - 1 Oct 2015

Gu Ben J, Field Judith, Dutertre Sébastien, Ou Amber, Kilpatrick Trevor J, Lechner-Scott Jeannette, Scott Rodney, Lea Rodney, Taylor Bruce V, Stankovich Jim, Butzkueven Helmut, Gresle Melissa, Laws Simon M, Petrou Steven, Hoffjan Sabine, Akkad Denis A, Graham Colin A, Hawkins Stanley, Glaser Anna, Bedri Sahl Khalid, Hillert Jan, Matute Carlos, Antiguedad Alfredo, Wiley James S

Abstract excerpt

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...

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PMID: 26188005
DOI: 10.1093/hmg/ddv278

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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