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Record W7119308932

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

2024· article· en· W7119308932 on OpenAlexfundno aff
Paulo A. Lotufo

Bibliographic record

VenueLA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsnot available
FundersDivision of Cancer Epidemiology and Genetics, National Cancer InstituteNational Institute on Minority Health and Health DisparitiesNational Institute of Diabetes and Digestive and Kidney DiseasesNational Human Genome Research InstituteKaiser Foundation Research InstituteMinistério da SaúdeManchester Biomedical Research CentreFundação de Amparo à Pesquisa do Estado de Minas GeraisNHLBI Division of Intramural ResearchFinanciadora de Estudos e ProjetosConselho Nacional de Desenvolvimento Científico e TecnológicoHankuk University of Foreign StudiesCanadian Institutes of Health ResearchNational Institute of Dental and Craniofacial ResearchAndrea and Charles Bronfman PhilanthropiesUniversity of WashingtonUniversity of MinnesotaNational Center on Minority Health and Health DisparitiesNational Institute for Health and Care ResearchNational Institutes of HealthSan Diego State UniversityNational Heart, Lung, and Blood InstituteUniversity of MiamiNorthwestern UniversityJackson State UniversityBritish Heart FoundationMississippi State Department of HealthKidney Research UKNational Cancer InstituteOffice of Dietary SupplementsU.S. Department of Health and Human Services
KeywordsEffectorGenome-wide association studyPopulationGenetic associationKidney diseaseGeneRenal functionTranscriptomeDisease
DOInot available

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 x 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.

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)0.002
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 score0.008
Threshold uncertainty score0.015

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.002
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.020
GPT teacher head0.246
Teacher spread0.226 · 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".

Quick stats

Citations0
Published2024
Admission routes1
Has abstractyes

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