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Record W2135944439 · doi:10.1073/pnas.0813310106

The role of the <i>CD58</i> locus in multiple sclerosis

2009· article· en· W2135944439 on OpenAlexaff
Philip L. De Jager, Clare Baecher‐Allan, Lisa M. Maier, Ariel Arthur, Linda Ottoboni, Lisa F. Barcellos, Jacob L. McCauley, Stephen Sawcer, An Goris, Janna Saarela, Roman Yelensky, Alkes L. Price, Virpi Leppä, Nick Patterson, Paul I. W. de Bakker, Dong Tran, Cristin Aubin, Susan Pobywajlo, Elizabeth J. Rossin, Xinli Hu, Charles Ashley, Edwin Choy, John D. Rioux, Margaret A. Pericak‐Vance, Adrian J. Ivinson, David R. Booth, Graeme J. Stewart, Aarno Palotie, Leena Peltonen, Bénédicte Dubois, Jonathan L. Haines, Howard L. Weiner, Alastair Compston, Stephen L. Hauser, Mark J. Daly, David Reich, Jorge R. Oksenberg, David A. Hafler

Bibliographic record

VenueProceedings of the National Academy of Sciences · 2009
Typearticle
Languageen
FieldImmunology and Microbiology
TopicT-cell and B-cell Immunology
Canadian institutionsMontreal Heart InstituteUniversité de Montréal
FundersNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesU.S. Public Health ServiceNational Institutes of HealthFonds Wetenschappelijk OnderzoekVlaamse regeringEuropean CommissionMultiple Sclerosis SocietyBrigham and Women's HospitalNational Institute for Health and Care ResearchNational Multiple Sclerosis Society
KeywordsAlleleMultiple sclerosisPeripheral blood mononuclear cellFOXP3Locus (genetics)BiologyCentral nervous systemImmunologyGeneticsGeneEndocrinologyImmune system

Abstract

fetched live from OpenAlex

Multiple sclerosis (MS) is an inflammatory disease of the central nervous system associated with demyelination and axonal loss. A whole genome association scan suggested that allelic variants in the CD58 gene region, encoding the costimulatory molecule LFA-3, are associated with risk of developing MS. We now report additional genetic evidence, as well as resequencing and fine mapping of the CD58 locus in patients with MS and control subjects. These efforts identify a CD58 variant that provides further evidence of association with MS (P = 1.1 x 10(-6), OR 0.82) and the single protective effect within the CD58 locus is captured by the rs2300747(G) allele. This protective rs2300747(G) allele is associated with a dose-dependent increase in CD58 mRNA expression in lymphoblastic cell lines (P = 1.1 x 10(-10)) and in peripheral blood mononuclear cells from MS subjects (P = 0.0037). This protective effect of enhanced CD58 expression on circulating mononuclear cells in patients with MS is supported by finding that CD58 mRNA expression is higher in MS subjects during clinical remission. Functional investigations suggest a potential mechanism whereby increases in CD58 expression, mediated by the protective allele, up-regulate the expression of transcription factor FoxP3 through engagement of the CD58 receptor, CD2, leading to the enhanced function of CD4(+)CD25(high) regulatory T cells that are defective in subjects with MS.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.064
Threshold uncertainty score0.718

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.002
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.028
GPT teacher head0.241
Teacher spread0.213 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations202
Published2009
Admission routes1
Has abstractyes

Explore more

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