Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease

• Published in: Human molecular genetics Vol. 12; no. 24; pp. 3385 - 3395
• Main Authors: Caprioli, Jessica, Castelletti, Federica, Bucchioni, Sara, Bettinaglio, Paola, Bresin, Elena, Pianetti, Gaia, Gamba, Sara, Brioschi, Simona, Daina, Erica, Remuzzi, Giuseppe, Noris, Marina
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 15.12.2003; Oxford Publishing Limited (England)
• Subjects: Amino Acid Sequence; Base Sequence; Biological and medical sciences; Classical genetics, quantitative genetics, hybrids; Complement Factor H - genetics; DNA Mutational Analysis; Female; Fundamental and applied biological sciences. Psychology; Gene Frequency; Genetic Predisposition to Disease; Genetics of eukaryotes. Biological and molecular evolution; Hemolytic-Uremic Syndrome - genetics; HF1 gene; Human; Humans; Male; Models, Molecular; Molecular Sequence Data; Mutation; Pedigree; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational; Purpura, Thrombotic Thrombocytopenic - genetics; thrombotic thrombocytopenic purpura; Human; Hemolysis; Gene; Statistical association; Complement; Mutation; Molecular biology; Uremia; Polymorphism

Mutations in complement factor H (HF1) gene have been reported in non-Shiga toxin-associated and diarrhoea-negative haemolytic uraemic syndrome (D−HUS). We analysed the complete HF1 in 101 patients with HUS, in 32 with thrombotic thrombocytopenic purpura (TTP) and in 106 controls to evaluate the fre...