Asunto(s)

Síndrome Hemolítico-Urémico/etiología , Trombofilia/complicaciones , Estudios de Casos y Controles , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Síndrome Hemolítico-Urémico/sangre , Síndrome Hemolítico-Urémico/genética , Humanos , Trombofilia/genética

RESUMEN

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.

Asunto(s)

Factor H de Complemento/genética , Predisposición Genética a la Enfermedad , Síndrome Hemolítico-Urémico/diagnóstico , Síndrome Hemolítico-Urémico/genética , Proteína Cofactora de Membrana/genética , Polimorfismo de Nucleótido Simple , Alelos , Estudios de Cohortes , Factor H de Complemento/metabolismo , Proteínas del Sistema Complemento , Cartilla de ADN/química , Frecuencia de los Genes , Haplotipos , Humanos , Proteína Cofactora de Membrana/metabolismo , Mutación , Receptores de Complemento