ArticleJournal of the American Society of Nephrology : JASN2018
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.
Article in Journal of the American Society of Nephrology : JASN, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Variants in complement genes are uncommon in patients with anti-factor H autoantibody-associated atypical hemolytic uremic syndrome.Pediatric nephrology (Berlin, Germany) · 2023Pooled it
- Functional Characterization of a Novel Intronic Complement Factor I Variant in Factor I Deficiency and Atypical Hemolytic Uremic Syndrome.Kidney international reports · 2026Article
- Beyond complement: comprehensive assessment of factor XIII plasma dynamics and genetics in atypical hemolytic uremic syndrome.Research and practice in thrombosis and haemostasis · 2026Article
- Thrombotic microangiopathy after kidney transplantation: diagnosis and management strategies.Clinical kidney journal · 2026Review
- How I Treat: Genetic Testing in Atypical Hemolytic Uremic Syndrome.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Article
- Identification of a new CD46 gene mutation site in a family with atypical hemolytic uremic syndrome.BMC nephrology · 2025Article
- Ten tips for managing complement-mediated thrombotic microangiopathies (formerly atypical hemolytic uremic syndrome): narrative review.BMC nephrology · 2025Review
- Late Onset Thrombotic Microangiopathy in Kidney Transplants; Poor Outcome Despite Eculizumab Treatment.Transplant international : official journal of the European Society for Organ Transplantation · 2025Article
- Outcomes from the International Society of Nephrology Hemolytic Uremic Syndromes International Forum.Kidney international · 2024Article
- Complement system activation: bridging physiology, pathophysiology, and therapy.Intensive care medicine · 2024Review
- Comprehensive Analysis of Thrombotic Microangiopathy Following Renal Transplantation.International journal of nephrology · 2024Article
- Observational
- Rare Variants in Complement Genes May Not Be That Rare After All.Kidney international reports · 2023Article
- Complement-Mediated Thrombotic Microangiopathy Related to COVID-19 or SARS-CoV-2 Vaccination.Kidney international reports · 2023Article
- The first successful eculizumab rescue therapy of a kidney transplant recipient with atypical hemolytic uremic syndrome in South Korea: a case report.Korean journal of transplantation · 2023Article
- Mutations in the alternative complement pathway in multiple myeloma patients with carfilzomib-induced thrombotic microangiopathy.Blood cancer journal · 2023Article
- Genetic investigation of Nordic patients with complement-mediated kidney diseases.Frontiers in immunology · 2023Article
- Alternative pathway diagnostics.Immunological reviews · 2023Review
- Complement Factor I Variants in Complement-Mediated Renal Diseases.Frontiers in immunology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic variation in complement genes is a predisposing factor for atypical hemolytic uremic syndrome (aHUS), a life-threatening thrombotic microangiopathy, however interpreting the effects of genetic variants is challenging and often ambiguous.
methodsWe analyzed 93 complement and coagulation genes in 400 patients with aHUS, using as controls 600 healthy individuals from Iowa and 63,345 non-Finnish European individuals from the Genome Aggregation Database. After adjusting for population stratification, we then applied the Fisher exact, modified Poisson exact, and optimal unified sequence kernel association tests to assess gene-based variant burden. We also applied a sliding-window analysis to define the frequency range over which variant burden was significant.
resultsWe found that patients with aHUS are enriched for ultrarare coding variants in the
conclusionsIn known aHUS-associated genes, variants with a minor allele frequency >0.1% should not be considered pathogenic unless valid enrichment and/or functional evidence are available.
Indexed as
Identifiers
What OpenQuestion holds
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.