MétaCan
Menu
Back to cohort
Record W4390116519 · doi:10.1016/j.xgen.2023.100468

Genome-wide study investigating effector genes and polygenic prediction for kidney function in persons with ancestry from Africa and the Americas

2023· review· en· W4390116519 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueCell Genomics · 2023
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcMaster UniversityPopulation Health Research Institute
FundersNHLBI Division of Intramural ResearchDivision of Cancer Epidemiology and Genetics, National Cancer InstituteNational Center for Advancing Translational SciencesNational Center for Research ResourcesNational Institute of Diabetes and Digestive and Kidney DiseasesKidney Research UKNational Human Genome Research InstituteNational Heart and Lung InstituteMinistério da SaúdeKaiser Foundation Research InstituteNational Heart, Lung, and Blood InstituteNational Institutes of HealthFogarty International CenterCanadian Institutes of Health ResearchManchester Biomedical Research CentreNational Institute for Health and Care ResearchNational Eye InstituteSan Diego State UniversityFundación IMSSFundação de Amparo à Pesquisa do Estado de Minas GeraisUniversity of North Carolina at Chapel HillInstituto Mexicano del Seguro SocialUniversity of MinnesotaFinanciadora de Estudos e ProjetosConselho Nacional de Desenvolvimento Científico e TecnológicoUniversity of TorontoGovernment of OntarioSociety for the Study of AddictionHankuk University of Foreign StudiesUniversity of ManchesterNational Institute of Neurological Disorders and StrokeBritish Heart FoundationDiabetes Research ConnectionNational Cancer InstituteMississippi State Department of HealthIndiana Clinical and Translational Sciences InstituteNational Institute of Dental and Craniofacial ResearchAndrea and Charles Bronfman PhilanthropiesHoward UniversityOntario Research FoundationUniversity of WashingtonUniversity of MiamiNorthwestern UniversityNational Institute on Minority Health and Health DisparitiesJackson State UniversityNational Center on Minority Health and Health DisparitiesNational Institute of Mental HealthUniversity of Alabama at BirminghamOffice of Dietary SupplementsOffice of the DirectorU.S. Department of Health and Human Services
KeywordsGenome-wide association studyBiologyGenetic associationGeneticsKidney diseasePopulationGenomeDiseaseGenomicsComputational biologyGene1000 Genomes ProjectEvolutionary biologyGenotypeMedicineSingle-nucleotide polymorphismInternal medicine

Abstract

fetched live from OpenAlex

Chronic kidney disease is a leading cause of death and disability globally and impacts individuals of African ancestry (AFR) or with ancestry in the Americas (AMS) who are under-represented in genome-wide association studies (GWASs) of kidney function. To address this bias, we conducted a large meta-analysis of GWASs of estimated glomerular filtration rate (eGFR) in 145,732 AFR and AMS individuals. We identified 41 loci at genome-wide significance (p < 5 × 10−8), of which two have not been previously reported in any ancestry group. We integrated fine-mapped loci with epigenomic and transcriptomic resources to highlight potential effector genes relevant to kidney physiology and disease, and reveal key regulatory elements and pathways involved in renal function and development. We demonstrate the varying but increased predictive power offered by a multi-ancestry polygenic score for eGFR and highlight the importance of population diversity in GWASs and multi-omics resources to enhance opportunities for clinical translation for all.

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.

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: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.938
Threshold uncertainty score0.795

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
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 head0.043
GPT teacher head0.281
Teacher spread0.237 · 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