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Martinón-Torres, Federico; Png, Eileen; Khor, Chiea Chuen; Davila, Sonia; Wright, Victoria J.; Sim, Kar Seng; Vega, Ana; Fachal, Laura; Inwald, David; Nadel, Simon; Carrol, Enitan D.; Martinón-Torres, Nazareth; Alonso, Sonia Marcos; Carracedo, Angel; Morteruel, Elvira; López-Bayón, Julio; Torre, Andrés Concha; Monge, Cristina Calvo; de Aguilar, Pilar Azcón González; Torné, Elisabeth Esteban; Martínez-Padilla, María del Carmen; Martinón-Sánchez, José María; Levin, Michael; Hibberd, Martin L.; [...]

Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies

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  • Medientyp: E-Artikel
  • Titel: Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies
  • Beteiligte: Martinón-Torres, Federico; Png, Eileen; Khor, Chiea Chuen; Davila, Sonia; Wright, Victoria J.; Sim, Kar Seng; Vega, Ana; Fachal, Laura; Inwald, David; Nadel, Simon; Carrol, Enitan D.; Martinón-Torres, Nazareth; Alonso, Sonia Marcos; Carracedo, Angel; Morteruel, Elvira; López-Bayón, Julio; Torre, Andrés Concha; Monge, Cristina Calvo; de Aguilar, Pilar Azcón González; Torné, Elisabeth Esteban; Martínez-Padilla, María del Carmen; Martinón-Sánchez, José María; Levin, Michael; Hibberd, Martin L.; [...]
  • Erschienen: Springer Science and Business Media LLC, 2016
  • Erschienen in: Scientific Reports
  • Sprache: Englisch
  • DOI: 10.1038/srep35842
  • ISSN: 2045-2322
  • Schlagwörter: Multidisciplinary
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Meningococcal disease (MD) remains an important infectious cause of life threatening infection in both industrialized and resource poor countries. Genetic factors influence both occurrence and severity of presentation, but the genes responsible are largely unknown. We performed a genome-wide association study (GWAS) examining 5,440,063 SNPs in 422 Spanish MD patients and 910 controls. We then performed a meta-analysis of the Spanish GWAS with GWAS data from the United Kingdom (combined cohorts: 897 cases and 5,613 controls; 4,898,259 SNPs). The meta-analysis identified strong evidence of association (<jats:italic>P</jats:italic>-value ≤ 5 × 10<jats:sup>−8</jats:sup>) in 20 variants located at the <jats:italic>CFH</jats:italic> gene. SNP rs193053835 showed the most significant protective effect (Odds Ratio (OR) = 0.62, 95% confidence interval (C.I.) = 0.52–0.73; <jats:italic>P</jats:italic>-value = 9.62 × 10<jats:sup>−9</jats:sup>). Five other variants had been previously reported to be associated with susceptibility to MD, including the missense SNP rs1065489 (OR = 0.64, 95% C.I.) = 0.55–0.76, <jats:italic>P-value</jats:italic> = 3.25 × 10<jats:sup>−8</jats:sup>). Theoretical predictions point to a functional effect of rs1065489, which may be directly responsible for protection against MD. Our study confirms the association of <jats:italic>CFH</jats:italic> with susceptibility to MD and strengthens the importance of this link in understanding pathogenesis of the disease.</jats:p>
  • Zugangsstatus: Freier Zugang