ArticleJournal of the American Society of Nephrology : JASN2021
Medical Records-Based Genetic Studies of the Complement System.
Article in Journal of the American Society of Nephrology : JASN, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- Study on the Interaction Between C3 Gene Polymorphism and Environment in Patients with Type 2 Diabetes Combined with Coronary Artery Disease.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Trial
- Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant.JAMA network open · 2026Article
- Interstitial cystitis: a phenotype and rare variant exome sequencing study.EBioMedicine · 2026Article
- The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodeling.medRxiv : the preprint server for health sciences · 2025Article
- Artificial intelligence in autoimmune diseases: a bibliometric exploration of the past two decades.Frontiers in immunology · 2025Review
- GWAS highlights the neuronal contribution to multiple sclerosis susceptibility.medRxiv : the preprint server for health sciences · 2024Article
- Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.Nature genetics · 2023Article
- Genome-wide polygenic score to predict chronic kidney disease across ancestries.Nature medicine · 2022Article
- Genetic analysis of CFH and MCP in Egyptian patients with immune-complex proliferative glomerulonephritis.Frontiers in immunology · 2022Article
- Biobanks Linked to Electronic Health Records Accelerate Genomic Discovery.Journal of the American Society of Nephrology : JASN · 2021Article
- Interrogating complement via medical records.Nature reviews. Nephrology · 2021Article
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Authors and funding
21 authors at 10 institutions in 3 countries.
Funding
Abstract
backgroundGenetic variants in complement genes have been associated with a wide range of human disease states, but well-powered genetic association studies of complement activation have not been performed in large multiethnic cohorts.
methodsWe performed medical records-based genome-wide and phenome-wide association studies for plasma C3 and C4 levels among participants of the Electronic Medical Records and Genomics (eMERGE) network.
resultsIn a GWAS for C3 levels in 3949 individuals, we detected two genome-wide significant loci: chr.1q31.3 (CFH locus; rs3753396-A;
conclusionsWe discovered genetic determinants of plasma C3 and C4 levels using eMERGE genomic data linked to electronic medical records. Genetic variants regulating C3 and C4 levels have large effects and multiple clinical correlations across the spectrum of complement-related diseases in humans.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.