{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:16:56Z","timestamp":1791206216300,"version":"4.1.0"},"reference-count":18,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2009,7]]},"abstract":"\n Background:<\/jats:title>\n Deletion of the complement factor H related 1 (CFHR1<\/jats:italic>) gene is a consequence of non-allelic homologous recombination and has been reported to be more frequent in atypical haemolytic uraemic syndrome (aHUS) patients than in the normal population. Therefore, it is considered a susceptibility factor for the disease. aHUS is associated with hereditary or acquired abnormalities that lead to uncontrolled alternative pathway complement activation. We tested the CFHR1<\/jats:italic> deletion for association with aHUS in a population of French aHUS cases and controls. Furthermore, we examined the effect of the deletion in the context of known aHUS risk factors.<\/jats:p>\n <\/jats:sec>\n \n Methods and results:<\/jats:title>\n 177 aHUS patients and 70 healthy donors were studied. The number of CFHR1<\/jats:italic> alleles was quantified by multiplex ligation dependant probe amplification (MLPA). The frequency of the deleted allele was significantly higher in aHUS patients than in controls (22.7% vs<\/jats:italic> 8.2%, p<0.001). The highest frequency was in the subgroup of patients exhibiting anti-factor H (FH) autoantibodies (92.9%, p<0.0001 vs<\/jats:italic> controls) and in the group of patients exhibiting a factor I (CFI<\/jats:italic>) gene mutation (31.8%, p<0.001 vs<\/jats:italic> controls). The CFHR1<\/jats:italic> deletion was not significantly more frequent in the cohort of aHUS patients when patients with anti-FH IgG or CFI<\/jats:italic> mutation were excluded.<\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n The high frequency of CFHR1<\/jats:italic> deletion in aHUS patients is restricted to the subgroups of patients presenting with anti-FH autoantibodies or, to a lesser degree, CFI<\/jats:italic> mutation. These results suggest that the CFHR1<\/jats:italic> deletion plays a secondary role in susceptibility to aHUS.<\/jats:p>\n <\/jats:sec>","DOI":"10.1136\/jmg.2008.064766","type":"journal-article","created":{"date-parts":[[2009,5,12]],"date-time":"2009-05-12T21:08:28Z","timestamp":1242162508000},"page":"447-450","source":"Crossref","is-referenced-by-count":138,"title":["The high frequency of complement factor H related CFHR1<\/i> gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome"],"prefix":"10.1136","volume":"46","author":[{"given":"M-A","family":"Dragon-Durey","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Blanc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Marliot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Loirat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Blouin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Sautes-Fridman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W H","family":"Fridman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Fr\u00e9meaux-Bacchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2009,5,11]]},"reference":[{"key":"2025101712165939000_46.7.447.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molimm.2007.06.003"},{"key":"2025101712165939000_46.7.447.2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-01-133702"},{"key":"2025101712165939000_46.7.447.3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0603420103"},{"key":"2025101712165939000_46.7.447.4","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0030041"},{"key":"2025101712165939000_46.7.447.5","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.0030431"},{"key":"2025101712165939000_46.7.447.6","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2004050380"},{"key":"2025101712165939000_46.7.447.7","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-09-109876"},{"key":"2025101712165939000_46.7.447.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.030783"},{"key":"2025101712165939000_46.7.447.9","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.180.9.6385"},{"key":"2025101712165939000_46.7.447.10","doi-asserted-by":"publisher","DOI":"10.1080\/07853890601097030"},{"key":"2025101712165939000_46.7.447.11","doi-asserted-by":"publisher","DOI":"10.1038\/ng1890"},{"key":"2025101712165939000_46.7.447.12","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006080811"},{"key":"2025101712165939000_46.7.447.13","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf056"},{"key":"2025101712165939000_46.7.447.14","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.019083"},{"key":"2025101712165939000_46.7.447.15","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000115702.28859.A7"},{"key":"2025101712165939000_46.7.447.16","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2005101051"},{"key":"2025101712165939000_46.7.447.17","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2006.10.022"},{"key":"2025101712165939000_46.7.447.18","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm369"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2008.064766","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:17:07Z","timestamp":1760728627000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2008.064766"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,11]]},"references-count":18,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2009,7,1]]},"published-print":{"date-parts":[[2009,7]]}},"alternative-id":["10.1136\/jmg.2008.064766"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2008.064766","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,11]]}}}