{"doi":"10.17615/s6nz-bb13","title":"Urine Uromodulin and Genetics of its Variation","abstract":"Uromodulin, or Tamm-Horsfall protein, is a protein well known to nephrologists as the gel-like structure matrix found in urinary casts. The glycoprotein is produced by epithelial cells of the thick ascending limb (TAL) and the distal convoluted tubules of the nephron. It is detected in urine as a high-molecular weight polymer, and is found in low concentrations in the serum, in a monomeric form. Both serum and urine uromodulin concentrations correlate with kidney function, and may bemarkers of functional kidneymass and tubular health. In the urine, uromodulin acts as an inhibitor of calcium crystallization and is thought to have an immune role against uropathogenic bacteria. The uromodulin protein is commercially measured using ELISA. However, urinary uromodulin is more susceptible to degradation and quality-control laboratory conditions, and there is variability in itsmeasurement. Genetic studies have identified rare coding mutations in the uromodulin gene (UMOD) associated with monogenic forms of CKD and UMOD noncoding (regulatory) common variants have been consistently associated with kidney function, CKD, and hypertension in genome-wide association studies (GWAS). Therefore, there is a great interest in identifying additional genetic factors that regulate uromodulin protein beyond the gene that encodes it.","journal":"UNC Libraries","year":2024,"id":498979,"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":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9499,"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":24742,"name":"Nora Franceschini","orcid":"0009-0001-8346-3662","position":1,"is_corresponding":false},{"id":312152,"name":"Thu H. Le","orcid":"0000-0002-6410-1623","position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":null,"created_at":"2026-07-19T02:09:45.971055Z","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":[]}