ReviewImmunological reviews2023
Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.
Review in Immunological reviews, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Typical or atypical hemolytic uremic syndrome? That is the question.Pediatric nephrology (Berlin, Germany) · 2026Article
- Functional Characterization of a Novel Intronic Complement Factor I Variant in Factor I Deficiency and Atypical Hemolytic Uremic Syndrome.Kidney international reports · 2026Article
- Association of Complement Genetics with Outcomes in IgA Nephropathy.Clinical journal of the American Society of Nephrology : CJASN · 2026Article
- Comprehensive Prediction Analysis of Novel Noncoding Regulatory Variants Identified in the MicroRNA Binding Regions in Complement System Genes.International journal of molecular sciences · 2026Article
- Genetic Variation in the Alternative Complement Pathway Contributes to Individual Susceptibility to Bacteremia and Sepsis.Critical care explorations · 2025Article
- Functional Roles of the Complement Immune System in Cardiac Inflammation and Hypertrophy.International journal of molecular sciences · 2025Review
- Innate immune response to AAV-based gene therapy vectors: Mechanisms of complement activation and cytokine release.Molecular therapy. Methods & clinical development · 2025Article
- Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease management.Nature reviews. Nephrology · 2025Review
- Article
- Factor H-related 1 and heparan sulfate architecture contribute to complement dysregulation in C3 glomerulopathy.Frontiers in immunology · 2025Article
- Terminal complement inhibition in atypical haemolytic uremic syndrome: a single-centre experience.Frontiers in pharmacology · 2025Article
- Nanoparticle-Binding Immunoglobulins Predict Variable Complement Responses in Healthy and Diseased Cohorts.ACS nano · 2024Article
- A Cell-Based Assay to Measure the Activity of the Complement Convertases.Kidney international reports · 2024Article
- Complement dysregulation associated with a genetic variant in factor H-related protein 5 in atypical hemolytic uremic syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- The Acquisition of Complement-Dependent Cytotoxicity by the Type II Anti-CD20 Therapeutic Antibody Obinutuzumab.Cancers · 2023Article
- The Rationale of Complement Blockade of the MCPInternational journal of molecular sciences · 2023Review
- Heme Interactions as Regulators of the Alternative Pathway Complement Responses and Implications for Heme-Associated Pathologies.Current issues in molecular biology · 2023Review
- Complement and COVID-19: Three years on, what we know, what we don't know, and what we ought to know.Immunobiology · 2023Review
- Targeted genotyping of COVID-19 patients reveals a signature of complement C3 and factor B coding SNPs associated with severe infection.Immunobiology · 2023Article
- Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.Immunological reviews · 2023Review
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Abstract
The implementation of next-generation sequencing technologies has provided a sharp picture of the genetic variability in the components and regulators of the alternative pathway (AP) of the complement system and has revealed the association of many AP variants with different rare and common diseases. An important finding that has emerged from these analyses is that each of these complement-related diseases associate with genetic variants altering specific aspects of the activation and regulation of the AP. These genotype-phenotype correlations have provided valuable insights into their pathogenic mechanisms with important diagnostic and therapeutic implications. While genetic variants in coding regions and structural variants are reasonably well characterized and occasionally have been instrumental to uncover unknown features of the complement proteins, data about complement expressed quantitative trait loci are still very limited. A crucial task for future studies will be to identify these quantitative variations and to determine their impact in the overall activity of the AP. This is fundamental as it is now clear that the consequences of genetic variants in the AP are additive and that susceptibility or resistance to disease is the result of specific combinations of genetic variants in different complement components and regulators ("complotypes").
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