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Record W2165019590 · doi:10.1038/ng.568

New loci associated with kidney function and chronic kidney disease

2010· article· en· W2165019590 on OpenAlexaff
Anna Köttgen, Cristian Pattaro, Carsten A. Böger, Christian Fuchsberger, Matthias Olden, Nicole L. Glazer, Afshin Parsa, Xiaoyi Gao, Qiong Yang, Albert V. Smith, Jeffrey R. O’Connell, Man Li, Helena Schmidt, Toshiko Tanaka, Aaron Isaacs, Shamika Ketkar, Shih-Jen Hwang, Andrew D. Johnson, Abbas Dehghan, Alexander Teumer, Guillaume Paré, Elizabeth J. Atkinson, Tanja Zeller, Kurt Lohman, Marilyn C. Cornelis, Nicole Probst‐Hensch, Florian Kronenberg, Anke Tönjes, Caroline Hayward, Thor Aspelund, Guðný Eiríksdóttir, Lenore J. Launer, Tamara B. Harris, Evadnie Rampersaud, Braxton D. Mitchell, Dan E. Arking, Eric Boerwinkle, Maksim Struchalin, Margherita Cavalieri, Andrew B. Singleton, Francesco Giallauria, Jeffrey Metter, Ian H. de Boer, Talin Haritunians, Thomas Lumley, David S. Siscovick, Bruce M. Psaty, M Carola Zillikens, Ben A. Oostra, Mary F. Feitosa, Michael A. Province, Mariza de Andrade, Stephen T. Turner, Arne Schillert, Andreas Ziegler, Philipp S. Wild, Renate B. Schnabel, Sandra Wilde, Thomas F. Münzel, Tennille S. Leak, Thomas Illig, Norman Klopp, Christa Meisinger, H‐Erich Wichmann, Wolfgang Köenig, Lina Zgaga, Tatijana Zemunik, Ivana Kolčić, Cosetta Minelli, Frank B. Hu, Åsa Johansson, Wilmar Igl, Ghazal Zaboli, Sarah H. Wild, Alan F. Wright, Harry Campbell, David Ellinghaus, Stefan Schreiber, Yurii S. Aulchenko, Janine F. Felix, Fernando Rivadeneira, André G. Uitterlinden, Albert Hofman, Medea Imboden, Dorothea Nitsch, Anita Kloss‐Brandstätter, Barbara Kollerits, Lyudmyla Kedenko, Reedik Mägi, Michael Stümvoll, Péter Kovács, Mladen Boban, Susan Campbell, Karlhans Endlich, Henry Völzke, Heyo K. Kroemer, Matthias Nauck, Uwe Völker, Ozren Polašek, Véronique Vitart, Sunita Badola, Alexander N. Parker, Paul M. Ridker, Sharon L. R. Kardia, Stefan Blankenberg, Ching‐Ti Liu, Gary C. Curhan, André Franke, Thierry Rochat, Bernhard Paulweber, Inga Prokopenko, Wei Wang, Vilmundur Guðnason, Alan R. Shuldiner, Josef Coresh, Reinhold Schmidt, Luigi Ferrucci, Michael G. Shlipak, Cornelia M. van Duijn, Ingrid B. Borecki, Bernhard K. Krämer, Igor Rudan, Ulf Gyllensten, James F. Wilson, Jacqueline C.M. Witteman, Peter P. Pramstaller, Rainer Rettig, Nick Hastie, Daniel I. Chasman, W.H. Linda Kao, Iris M. Heid, Caroline S. Fox

Bibliographic record

VenueNature Genetics · 2010
Typearticle
Languageen
FieldMedicine
TopicRenal Diseases and Glomerulopathies
Canadian institutionsMcMaster University
FundersNational Institute of Dental and Craniofacial ResearchNational Center for Research ResourcesNational Institute of General Medical SciencesNational Human Genome Research InstituteNational Institute of Diabetes and Digestive and Kidney DiseasesNational Heart, Lung, and Blood InstituteNational Institute on Aging
KeywordsBiologyKidney diseaseRenal functionCystatin CGenome-wide association studyCreatininePopulationGeneticsKidneyInternal medicineEndocrinologyBioinformaticsGenotypeSingle-nucleotide polymorphismGeneMedicine

Abstract

fetched live from OpenAlex

Caroline Fox and colleagues report results of a large genome-wide association meta-analysis and replication study for indices of renal function. Their work identifies 13 new loci associated with renal function and 7 loci associated with creatinine production and secretion. Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association data in 67,093 individuals of European ancestry from 20 predominantly population-based studies in order to identify new susceptibility loci for reduced renal function as estimated by serum creatinine (eGFRcrea), serum cystatin c (eGFRcys) and CKD (eGFRcrea < 60 ml/min/1.73 m2; n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide–significant loci (P < 5 × 10−8) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or near LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2, DACH1, UBE2Q2 and SLC7A9) and 7 loci suspected to affect creatinine production and secretion (CPS1, SLC22A2, TMEM60, WDR37, SLC6A13, WDR72 and BCAS3). These results further our understanding of the biologic mechanisms of kidney function by identifying loci that potentially influence nephrogenesis, podocyte function, angiogenesis, solute transport and metabolic functions of the kidney.

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)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.021

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.002
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0020.001
Insufficient payload (model declined to judge)0.0060.000

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 head0.004
GPT teacher head0.233
Teacher spread0.229 · 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 designObservational
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".

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Citations810
Published2010
Admission routes1
Has abstractno

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