{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:17:41Z","timestamp":1791206261851,"version":"4.1.0"},"reference-count":26,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2005,11]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> 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.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Objective:<\/jats:bold> To examine single nucleotide polymorphisms in both <jats:italic>CFH<\/jats:italic> and <jats:italic>MCP<\/jats:italic> genes in two large cohorts of HUS patients (Newcastle and Paris).<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> In both cohorts there was an association with HUS for both <jats:italic>CFH<\/jats:italic> and <jats:italic>MCP<\/jats:italic> alleles. <jats:italic>CFH<\/jats:italic> and <jats:italic>MCP<\/jats:italic> haplotypes were also significantly different in HUS patients compared with controls.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> This study suggests that there are naturally occurring susceptibility factors in <jats:italic>CFH<\/jats:italic> and <jats:italic>MCP<\/jats:italic> for the development of atypical HUS.<\/jats:p>","DOI":"10.1136\/jmg.2005.030783","type":"journal-article","created":{"date-parts":[[2005,3,22]],"date-time":"2005-03-22T20:24:32Z","timestamp":1111523072000},"page":"852-856","source":"Crossref","is-referenced-by-count":138,"title":["The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts"],"prefix":"10.1136","volume":"42","author":[{"given":"V","family":"Fremeaux-Bacchi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E J","family":"Kemp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J 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