{"doi":"10.1111/bjh.19525","title":"Prevalence of kidney health genetic variants in adults with sickle cell nephropathy","abstract":"The pathophysiology and genetic risk for sickle cell disease (SCD)-related chronic kidney disease (CKD) are not well understood. In 70 adults with SCD-related CKD and without APOL1 inherited in a high-risk pattern, 24 (34%) had pathogenic variants in candidate genes using KidneySeq™. A moderate impact INF2 variant was observed in 20 (29%) patients and those with 3 versus 0-2 pathogenic or moderate impact glomerular genetic variants had higher albuminuria and lower estimated glomerular filtration rate (adjusted p ≤ 0.015). Using a panel of preselected genes implicated in kidney health, we observed several variants in people with sickle cell nephropathy.","journal":"British Journal of Haematology","year":2024,"id":473375,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9663,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":351694,"name":"Xu Zhang","orcid":"0000-0002-7732-1385","position":1,"is_corresponding":false},{"id":1309422,"name":"M. Adela Mansilla","orcid":null,"position":2,"is_corresponding":false},{"id":734923,"name":"Rima S. Zahr","orcid":"0000-0002-3631-7195","position":3,"is_corresponding":false},{"id":971911,"name":"Christie P. Thomas","orcid":"0000-0002-5989-9685","position":4,"is_corresponding":false},{"id":291758,"name":"Richard J. Smith","orcid":"0000-0003-1201-6731","position":5,"is_corresponding":false},{"id":269831,"name":"Victor R. Gordeuk","orcid":"0000-0003-4725-7295","position":6,"is_corresponding":false},{"id":292968,"name":"Santosh L. Saraf","orcid":"0000-0002-8584-4194","position":7,"is_corresponding":false},{"id":785771,"name":"Maria Armila Ruiz","orcid":"0000-0003-1190-4219","position":0,"is_corresponding":true}],"reference_count":14,"raw_metadata":null,"created_at":"2026-07-19T02:06:01.000126Z","pmid":"38735682","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":[]}