ArticleClinical genetics2018
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
Article in Clinical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 23 citations in OpenAlex.
- Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Article
- Evidence for the Pathogenicity of aMedicina (Kaunas, Lithuania) · 2025Article
- Genetic Susceptibility in Sinusoidal Obstruction Syndrome/Veno-Occlusive Disease: A Case-Control Study.International journal of molecular sciences · 2025Article
- Functional evaluation of rare variants in complement factor I using a minigene assay.Frontiers in immunology · 2024Article
- Molecular Advances in Sinusoidal Obstruction Syndrome/Veno-Occlusive Disease.International journal of molecular sciences · 2023Review
- Functional and Expressional Analyses Reveal the Distinct Role of Complement Factor I in Regulating Complement System Activation during GCRV Infection inInternational journal of molecular sciences · 2022Article
- Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank.Human molecular genetics · 2022Article
- Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.Human molecular genetics · 2022Article
- Complement Factor I Variants in Complement-Mediated Renal Diseases.Frontiers in immunology · 2022Article
- Genetic Risk in Families with Age-Related Macular Degeneration.Ophthalmology science · 2021Article
- Compound Haplotype Variants inJournal of personalized medicine · 2021Article
- Effect of rare coding variants in the CFI gene on Factor I expression levels.Human molecular genetics · 2020Article
- A New Era in Endothelial Injury Syndromes: Toxicity of CAR-T Cells and the Role of Immunity.International journal of molecular sciences · 2020Review
- European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management.Journal of clinical immunology · 2020Article
- Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.Clinical genetics · 2018Article
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Authors and funding
8 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic alterations in the complement system have been linked to a variety of diseases, including atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy (C3G), and age-related macular degeneration (AMD). We performed sequence analysis of the complement genes complement factor H (CFH), complement factor I (CFI), and complement C3 (C3) in 866 aHUS/C3G and 697 AMD patients. In total, we identified 505 low-frequency alleles, representing 121 unique variants, of which 51 are novel. CFH contained the largest number of unique low-frequency variants (n = 64; 53%), followed by C3 (n = 32; 26%) and CFI (n = 25; 21%). A substantial number of variants were found in both patients groups (n = 48; 40%), while 41 (34%) variants were found only in aHUS/C3G and 32 (26%) variants were AMD specific. Genotype-phenotype correlations between the disease groups identified a higher frequency of protein altering alleles in short consensus repeat 20 (SCR20) of factor H (FH), and in the serine protease domain of factor I (FI) in aHUS/C3G patients. In AMD, a higher frequency of protein-altering alleles was observed in SCR3, SCR5, and SCR7 of FH, the SRCR domain of FI, and in the MG3 domain of C3. In conclusion, we observed a substantial overlap of variants between aHUS/C3G and AMD; however, there is a distinct clustering of variants within specific domains.
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