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Record W2108525019 · doi:10.1681/asn.2010060598

CUBN Is a Gene Locus for Albuminuria

2011· review· en· W2108525019 on OpenAlexaff
Carsten A. Böger, Ming‐Huei Chen, Adrienne Tin, Matthias Olden, Anna Köttgen, Ian H. de Boer, Christian Fuchsberger, Conall M. O’Seaghdha, Cristian Pattaro, Alexander Teumer, Ching‐Ti Liu, Nicole L. Glazer, Man Li, Jeffrey R. O’Connell, Toshiko Tanaka, Carmen A. Peralta, Zoltán Kutalik, Jian’an Luan, Jing Hua Zhao, Shih-Jen Hwang, Ermeg L. Akylbekova, Holly Kramer, Pim van der Harst, Albert V. Smith, Kurt Lohman, Mariza de Andrade, Caroline Hayward, Barbara Kollerits, Anke Tönjes, Thor Aspelund, Erik Ingelsson, Guðný Eiríksdóttir, Lenore J. Launer, Tamara B. Harris, Alan R. Shuldiner, Braxton D. Mitchell, Dan E. Arking, Nora Franceschini, Eric Boerwinkle, Josephine M. Egan, Dena G. Hernandez, Muredach P. Reilly, Raymond R. Townsend, Thomas Lumley, David S. Siscovick, Bruce M. Psaty, Bryan Kestenbaum, Talin Haritunians, Sven Bergmann, Péter Vollenweider, Gérard Waeber, Vincent Mooser, Dawn Waterworth, Andrew D. Johnson, Jose C. Florez, James B. Meigs, Xiaoning Lu, Stephen T. Turner, Elizabeth J. Atkinson, Tennille S. Leak, Knut Aasarød, Frank Skorpen, Ann-Christine Syvänen, Thomas Illig, Jens Baumert, Wolfgang Köenig, Bernhard K. Krämer, Olivier Devuyst, Josyf C. Mychaleckyj, Cosetta Minelli, Stephan J. L. Bakker, Lyudmyla Kedenko, Bernhard Paulweber, Stefan Coassin, Karlhans Endlich, Heyo K. Kroemer, Reiner Biffar, Sylvia Stracke, Henry Völzke, Michael Stümvoll, Reedik Mägi, Harry Campbell, Véronique Vitart, Nicholas D. Hastie, Vilmundur Guðnason, Sharon L. R. Kardia, Ozren Polašek, Gary C. Curhan, Florian Kronenberg, Inga Prokopenko, Igor Rudan, Johan Ärnlöv, Stein Hallan, Gerjan Navis, Afshin Parsa, Luigi Ferrucci, Josef Coresh, Michael G. Shlipak, Shelley B. Bull, Andrew D. Paterson, H‐Erich Wichmann, Nicholas J. Wareham, Ruth J. F. Loos, Jerome I. Rotter, Peter P. Pramstaller, L. Adrienne Cupples, J. Beckmann, Qiong Yang, Iris M. Heid, Rainer Rettig, Albert W. Dreisbach, Murielle Bochud, Caroline S. Fox, W.H. Linda Kao

Bibliographic record

VenueJournal of the American Society of Nephrology · 2011
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMetabolism and Genetic Disorders
Canadian institutionsUniversity of Toronto
FundersNational Center for Research ResourcesNational Institute of Diabetes and Digestive and Kidney DiseasesWellcome TrustNederlandse Organisatie voor Wetenschappelijk OnderzoekNational Human Genome Research InstituteNational Institute on AgingNational Heart, Lung, and Blood InstituteNational Institutes of HealthSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungNational Institute of General Medical SciencesNational Institute for Health and Care ResearchBritish Heart FoundationNational Cancer InstituteCancer Research UK
KeywordsAlbuminuriaLocus (genetics)MedicineGeneInternal medicineGeneticsBiologyKidney disease

Abstract

fetched live from OpenAlex

Identification of genetic risk factors for albuminuria may alter strategies for early prevention of CKD progression, particularly among patients with diabetes. Little is known about the influence of common genetic variants on albuminuria in both general and diabetic populations. We performed a meta-analysis of data from 63,153 individuals of European ancestry with genotype information from genome-wide association studies (CKDGen Consortium) and from a large candidate gene study (CARe Consortium) to identify susceptibility loci for the quantitative trait urinary albumin-to-creatinine ratio (UACR) and the clinical diagnosis microalbuminuria. We identified an association between a missense variant (I2984V) in the CUBN gene, which encodes cubilin, and both UACR (P = 1.1 × 10(-11)) and microalbuminuria (P = 0.001). We observed similar associations among 6981 African Americans in the CARe Consortium. The associations between this variant and both UACR and microalbuminuria were significant in individuals of European ancestry regardless of diabetes status. Finally, this variant associated with a 41% increased risk for the development of persistent microalbuminuria during 20 years of follow-up among 1304 participants with type 1 diabetes in the prospective DCCT/EDIC Study. In summary, we identified a missense CUBN variant that associates with levels of albuminuria in both the general population and in individuals with diabetes.

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)0.001
metaresearch head score (Gemma)0.001
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: Review
Teacher disagreement score0.002
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0020.002
Science and technology studies0.0000.001
Scholarly communication0.0010.001
Open science0.0010.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.001

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 head0.029
GPT teacher head0.313
Teacher spread0.283 · 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

Citations237
Published2011
Admission routes1
Has abstractyes

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