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Meta-Analysis of Genome-Wide Association Studies in >80 000 Subjects Identifies Multiple Loci for C-Reactive Protein Levels

2011· review· en· W2100532651 on OpenAlexafffund
Abbas Dehghan, Josée Dupuis, Maja Barbalić, Joshua C. Bis, Guðný Eiríksdóttir, Lu Chen, Niina Pellikka, Henri Wallaschofski, Johannes Kettunen, Peter Henneman, Jens Baumert, David P. Strachan, Christian Fuchsberger, Véronique Vitart, James F. Wilson, Guillaume Paré, Silvia Naitza, Megan E. Rudock, Ida Surakka, Eco J. C. de Geus, Behrooz Z. Alizadeh, Jack M. Guralnik, Alan R. Shuldiner, Toshiko Tanaka, Robert Y.L. Zee, Renate B. Schnabel, Vijay Nambi, Maryam Kavousi, Samuli Ripatti, Matthias Nauck, Nicholas L. Smith, Albert V. Smith, Jouko Sundvall, Paul Scheet, Ching‐Ti Liu, Aimo Ruokonen, Lynda M. Rose, Martin G. Larson, Ron C. Hoogeveen, Nelson B. Freimer, Alexander Teumer, Russell P. Tracy, Lenore J. Launer, Julie E. Buring, Jennifer F. Yamamoto, Aaron R. Folsom, Eric J.G. Sijbrands, James S. Pankow, Paul Elliott, John F. Keaney, Wei Sun, Antti-Pekka Sarin, João D. Fontes, Sunita Badola, Brad C. Astor, Albert Hofman, Anneli Pouta, Karl Werdan, Karin Halina Greiser, Oliver Kuß, Henriette E. Meyer zu Schwabedissen, Joachim Thiery, Yalda Jamshidi, Ilja M. Nolte, Nicole Soranzo, Timothy D. Spector, Henry Völzke, Alexander N. Parker, Thor Aspelund, David O. Bates, Lauren Young, Kim Tsui, David S. Siscovick, Xiuqing Guo, Jerome I. Rotter, Manuela Uda, David Schlessinger, Igor Rudan, Andrew A. Hicks, Brenda W.J.H. Penninx, Barbara Thorand, Christian Gieger, Joe Coresh, Gonneke Willemsen, Tamara B. Harris, André G. Uitterlinden, Marjo‐Riitta Järvelin, Kenneth Rice, Dörte Radke, Veikko Salomaa, Ko Willems van Dijk, Eric Boerwinkle, Ramachandran S. Vasan, Luigi Ferrucci, Quince Gibson, Stefania Bandinelli, Harold Snieder, Dorret I. Boomsma, Xiangjun Xiao, Harry Campbell, Caroline Hayward, Peter P. Pramstaller, Cornelia M. van Duijn, Leena Peltonen, Bruce M. Psaty, Vilmundur Guðnason, Paul M. Ridker, Georg Homuth, Wolfgang Köenig, Christie M. Ballantyne, Jacqueline C.M. Witteman, Emelia J. Benjamin, Markus Perola, Daniel I. Chasman

Bibliographic record

VenueCirculation · 2011
Typereview
Languageen
FieldMedicine
TopicAdipokines, Inflammation, and Metabolic Diseases
Canadian institutionsGibson Energy (Canada)
FundersInstitute of GeneticsNational Center for Research ResourcesNational Institute of Mental HealthNational Heart, Lung, and Blood InstituteNational Institute on AgingMedical Research CouncilUniversity of Texas MD Anderson Cancer CenterNational Institutes of HealthTerveyden ja hyvinvoinnin laitosUniversität GreifswaldHjartaverndU.S. Department of Veterans AffairsOffice of Research and DevelopmentOulun YliopistoUniversitair Medisch Centrum GroningenRijksuniversiteit GroningenUniversiteit LeidenKing's College LondonBiotechnology and Biological Sciences Research CouncilWellcome TrustErasmus Medisch CentrumVrije Universiteit AmsterdamUniversity of Texas Health Science Center at HoustonImperial College LondonUniversity of WashingtonHelsingin YliopistoCedars-Sinai Medical CenterNational Institute of Diabetes and Digestive and Kidney DiseasesBiocenter, University of OuluConsiglio Nazionale delle RicercheAmgenNational Cancer InstituteWake Forest UniversityHáskóli ÍslandsUniversity of MinnesotaBritish Heart FoundationUniversity of North Carolina at Chapel HillBrigham and Women's Hospital
KeywordsGenome-wide association studyGeneticsGenetic associationSingle-nucleotide polymorphismMedicineInflammationAlleleC-reactive proteinDiseaseBiologyGeneBioinformaticsImmunologyGenotypeInternal medicine

Abstract

fetched live from OpenAlex

BACKGROUND: C-reactive protein (CRP) is a heritable marker of chronic inflammation that is strongly associated with cardiovascular disease. We sought to identify genetic variants that are associated with CRP levels. METHODS AND RESULTS: We performed a genome-wide association analysis of CRP in 66 185 participants from 15 population-based studies. We sought replication for the genome-wide significant and suggestive loci in a replication panel comprising 16 540 individuals from 10 independent studies. We found 18 genome-wide significant loci, and we provided evidence of replication for 8 of them. Our results confirm 7 previously known loci and introduce 11 novel loci that are implicated in pathways related to the metabolic syndrome (APOC1, HNF1A, LEPR, GCKR, HNF4A, and PTPN2) or the immune system (CRP, IL6R, NLRP3, IL1F10, and IRF1) or that reside in regions previously not known to play a role in chronic inflammation (PPP1R3B, SALL1, PABPC4, ASCL1, RORA, and BCL7B). We found a significant interaction of body mass index with LEPR (P<2.9×10(-6)). A weighted genetic risk score that was developed to summarize the effect of risk alleles was strongly associated with CRP levels and explained ≈5% of the trait variance; however, there was no evidence for these genetic variants explaining the association of CRP with coronary heart disease. CONCLUSIONS: We identified 18 loci that were associated with CRP levels. Our study highlights immune response and metabolic regulatory pathways involved in the regulation of chronic inflammation.

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)0.014
metaresearch head score (Gemma)0.017
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: Meta-analysis
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.014
Threshold uncertainty score0.075

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0140.017
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0060.020
Bibliometrics0.0040.007
Science and technology studies0.0010.001
Scholarly communication0.0030.001
Open science0.0020.002
Research integrity0.0020.002
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 head0.229
GPT teacher head0.374
Teacher spread0.145 · 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 designMeta-analysis
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

Citations524
Published2011
Admission routes2
Has abstractyes

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