{"doi":"10.1101/2020.09.04.283713","title":"Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals","abstract":"ABSTRACT Chronic kidney disease (CKD) has a complex genetic underpinning. Genome-wide association studies (GWAS) of CKD-defining glomerular filtration rate (GFR) have identified hundreds of loci, but prioritization of variants and genes is challenging. To expand and refine GWAS discovery, we meta-analyzed GWAS data for creatinine-based estimated GFR (eGFRcrea) from the Chronic Kidney Disease Genetics Consortium (CKDGen, n=765,348, trans-ethnic) and UK Biobank (UKB, n=436,581, Europeans). The results (i) extend the number of eGFRcrea loci (424 loci; 201 novel; 8.9% eGFRcrea variance explained by 634 independent signals); (ii) improve fine-mapping resolution (138 99% credible sets with ≤5 variants, 44 single-variant sets); (iii) ascertain likely kidney function relevance for 343 loci (consistent association with alternative biomarkers); and (iv) highlight 34 genes with strong evidence by a systematic Gene PrioritiSation (GPS). We provide a sortable, searchable and customizable GPS tool to navigate through the in silico functional evidence and select relevant targets for functional investigations.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2020,"id":121727,"datarank":0.4764914910343626,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.1846049686760656,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.1846049686760656,"corpus_percentile":59.982981356850004,"corpus_rank":5174,"citation_count":6,"citer_count":6,"citers_with_citation_signal":5,"citers_with_endowment":5,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.5781,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":561806,"name":"Yong Li","orcid":"0000-0003-2651-8791","position":1,"is_corresponding":false},{"id":346229,"name":"Mathias Gorski","orcid":null,"position":2,"is_corresponding":false},{"id":242673,"name":"Matthias Wuttke","orcid":"0000-0003-3420-5082","position":3,"is_corresponding":false},{"id":561807,"name":"Cristian Pattaro","orcid":"0000-0002-4119-0109","position":4,"is_corresponding":false},{"id":49742,"name":"Anna Köttgen","orcid":"0000-0002-4671-3714","position":5,"is_corresponding":false},{"id":259260,"name":"Klaus Stark","orcid":"0000-0002-7832-1942","position":6,"is_corresponding":false},{"id":21992,"name":"Iris M. Heid","orcid":"0000-0002-4122-5308","position":7,"is_corresponding":false},{"id":21686,"name":"Thomas W. Winkler","orcid":"0000-0003-0292-5421","position":8,"is_corresponding":false},{"id":561805,"name":"Kira J. Stanzick","orcid":"0000-0001-6427-5212","position":0,"is_corresponding":true}],"reference_count":51,"raw_metadata":null,"created_at":"2026-07-18T23:14:46.979435Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}