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Record W2135141908 · doi:10.3899/jrheum.120506

Influence of the <i>IL6</i> Gene in Susceptibility to Systemic Sclerosis

2012· review· en· W2135141908 on OpenAlexvenueno aff
María Carmen Cénit, CARMEN P. SIMEÓN, MADELON C. VONK, José Luís Callejas-Rubio, GERARD ESPINOSA, Patrícia Carreira, Francisco J. Blanco, Javier Narváez, CARLOS TOLOSA, JOSÉ A. ROMÁN-IVORRA, INMACULADA GÓMEZ-GARCÍA, Francisco José García Hernández, MARÍA GALLEGO, ROSA GARCÍA-PORTALES, María Victoria Egurbide, VICENTE FONOLLOSA, Paloma García de la Peña, FRANCISCO J. LÓPEZ-LONGO, Miguel Á. González‐Gay, Roger Hesselstrand, GABRIELA RIEMEKASTEN, TORSTEN WITTE, Alexandre E. Voskuyl, ANNEMIE J. SCHUERWEGH, Rajan Madhok, CARMEN FONSECA, CHRISTOPHER DENTON, Annica Nordin, Øyvind Palm, JACOB M. van LAAR, NICOLAS HUNZELMANN, JÖRG H.W. DISTLER, Alexander Kreuter, Ariane L. Herrick, Jane Worthington, Bobby P. C. Koeleman, Timothy R. D. J. Radstake, Javier Martı́n

Bibliographic record

VenueThe Journal of Rheumatology · 2012
Typereview
Languageen
FieldMedicine
TopicSystemic Sclerosis and Related Diseases
Canadian institutionsnot available
FundersSociedad Española de ReumatologíaJunta de AndalucíaEuropean League Against Rheumatism
KeywordsMedicineSystemic diseaseGeneImmunologyImmunopathologyGeneticsBiology

Abstract

fetched live from OpenAlex

OBJECTIVE: Systemic sclerosis (SSc) is a genetically complex autoimmune disease; the genetic component has not been fully defined. Interleukin 6 (IL-6) plays a crucial role in immunity and fibrosis, both key aspects of SSc. We investigated the influence of IL6 gene in the susceptibility and phenotype expression of SSc. METHODS: We performed a large metaanalysis including a total of 2749 cases and 3189 controls from 6 white populations (Germany, The Netherlands, Norway, Spain, Sweden, and United Kingdom). Three IL6 single-nucleotide polymorphisms (SNP; rs2069827, rs1800795, and rs2069840) were selected by SNP tagging and genotyped using TaqMan(®) allele discrimination technology. RESULTS: Individual SNP metaanalysis showed no evidence of association of the 3 IL6 genetic variants with the global disease. Phenotype analyses revealed a significant association between the minor allele of rs2069840 and the limited cutaneous SSc clinical form (Bonferroni p = 0.036, OR 1.14, 95% CI 1.04-1.25). A trend of association between the minor allele of the rs1800795 and the diffuse cutaneous SSc clinical form was also evident (Bonferroni p = 0.072, OR 0.86, 95% CI 0.77-0.96). In the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 showed an association with overall SSc (Bonferroni p = 0.016, OR 1.13, 95% CI 1.04-1.23). CONCLUSION: Our results suggest that the IL6 gene may influence the development of SSc and its progression.

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.004
metaresearch head score (Gemma)0.006
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: none
Teacher disagreement score0.004
Threshold uncertainty score0.019

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0040.006
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.005
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0010.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.000

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 head0.052
GPT teacher head0.302
Teacher spread0.250 · 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 source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreReview

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

Citations38
Published2012
Admission routes1
Has abstractyes

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