BACKGROUND: In both familial and sporadic atypical haemolytic-uraemic syndrome (aHUS), mutations have been reported in regulators of the alternative complement pathway including factor H (CFH), membrane cofactor protein (MCP), and the serine protease factor I (IF). A characteristic feature of both MCP and CFH associated HUS is reduced penetrance and variable inheritance; one possible explanation for this is that functional changes in complement proteins act as modifiers. OBJECTIVE: To examine single nucleotide polymorphisms in both CFH and MCP genes in two large cohorts of HUS patients (Newcastle and Paris). RESULTS: In both cohorts there was an association with HUS for both CFH and MCP alleles. CFH and MCP haplotypes were also significantly different in HUS patients compared with controls. CONCLUSIONS: This study suggests that there are naturally occurring susceptibility factors in CFH and MCP for the development of atypical HUS.
BACKGROUND: In both familial and sporadic atypical haemolytic-uraemic syndrome (aHUS), mutations have been reported in regulators of the alternative complement pathway including factor H (CFH), membrane cofactor protein (MCP), and the serine protease factor I (IF). A characteristic feature of both MCP and CFH associated HUS is reduced penetrance and variable inheritance; one possible explanation for this is that functional changes in complement proteins act as modifiers. OBJECTIVE: To examine single nucleotide polymorphisms in both CFH and MCP genes in two large cohorts of HUS patients (Newcastle and Paris). RESULTS: In both cohorts there was an association with HUS for both CFH and MCP alleles. CFH and MCP haplotypes were also significantly different in HUS patients compared with controls. CONCLUSIONS: This study suggests that there are naturally occurring susceptibility factors in CFH and MCP for the development of atypical HUS.
Authors: Jessica Caprioli; Marina Noris; Simona Brioschi; Gaia Pianetti; Federica Castelletti; Paola Bettinaglio; Caterina Mele; Elena Bresin; Linda Cassis; Sara Gamba; Francesca Porrati; Sara Bucchioni; Giuseppe Monteferrante; Celia J Fang; M K Liszewski; David Kavanagh; John P Atkinson; Giuseppe Remuzzi Journal: Blood Date: 2006-04-18 Impact factor: 22.113
Authors: R Martínez-Barricarte; E Goicoechea de Jorge; T Montes; A G Layana; S Rodríguez de Córdoba Journal: Clin Exp Immunol Date: 2009-01 Impact factor: 4.330