Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease

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• dc.contributor.author Franco-Jarava, Clara
• dc.contributor.author Comas, David, 1969-
• dc.contributor.author Orren, Ann
• dc.contributor.author Hernández-González, M.
• dc.contributor.author Colobran, Roger
• dc.date.accessioned 2018-11-13T09:56:49Z
• dc.date.available 2018-11-13T09:56:49Z
• dc.date.issued 2017
• dc.description.abstract Complement C5 deficiency (C5D) is a rare primary immunodeficiency associated with recurrent infections, particularly meningitis, by Neisseria species. To date, studies to elucidate the molecular basis of hereditary C5D have included fewer than 40 families, and most C5 mutations (13 of 17) have been found in single families. However, the recently described C5 p.A252T mutation is reported to be associated with approximately 7% of meningococcal disease cases in South Africa. This finding raises the question of whether the mutation may be prevalent in other parts of Africa or other continental regions. The aim of this study was to investigate the prevalence of C5 p.A252T in Africa and other regions and discuss the implications for prophylaxis against meningococcal disease. In total, 2710 samples from healthy donors within various populations worldwide were analysed by quantitative polymerase chain reaction (qPCR) assay to detect the C5 p.A252T mutation. Eleven samples were found to be heterozygous for p.A252T, and nine of these samples were from sub-Saharan African populations (allele frequency 0·94%). Interestingly, two other heterozygous samples were from individuals in populations outside Africa (Israel and Pakistan). These findings, together with data from genomic variation databases, indicate a 0·5-2% prevalence of the C5 p.A252T mutation in heterozygosity in sub-Saharan Africa. Therefore, this mutation may have a relevant role in meningococcal disease susceptibility in this geographical area.
• dc.description.sponsorship This study was funded by Instituto de Salud Carlos III, grant PI14/00405, co‐financed by the European Regional Development Fund (ERDF), and by MINECO grant CGL2013‐44351‐P
• dc.format.mimetype application/pdf
• dc.identifier.citation Franco-Jarava C, Comas D, Orren A, Hernández-González M, Colobran R. Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease. Clin Exp Immunol. 2017 Aug;189(2):226-31. DOI: 10.1111/cei.12967
• dc.identifier.doi http://dx.doi.org/10.1111/cei.12967
• dc.identifier.issn 0009-9104
• dc.identifier.uri http://hdl.handle.net/10230/35736
• dc.language.iso eng
• dc.publisher Wiley
• dc.relation.ispartof Clinical and Experimental Immunology. 2017 Aug;189(2):226-31
• dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/CGL2013‐44351‐P
• dc.rights This is the peer reviewed version of the following article: Franco-Jarava C, Comas D, Orren A, Hernández-González M, Colobran R. Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease. Clin Exp Immunol. 2017 Aug; 189(2: 226-231. DOI: 10.1111/cei.12967, which has been published in final form at http://dx.doi.org/10.1111/cei.12967. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.subject.other Àfrica
• dc.subject.other Complement component 5
• dc.subject.other Malalties immunològiques
• dc.subject.other Meningitis
• dc.title Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/acceptedVersion