Please use this identifier to cite or link to this item:
Title: Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies.
Authors: 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
Salas, Antonio
ESIGEM network
ESPID meningococcal consortium – UK
EUCLIDS consortium members - Imperial College London (
metadata.dc.subject.mesh: Complement Factor H
Databases, Factual
Genetic Loci
Genome-Wide Association Study
Immunity, Innate
Meningococcal Infections
Odds Ratio
Polymorphism, Single Nucleotide
White People
Issue Date: 2-Nov-2016
Abstract: 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 (P-value ≤ 5 × 10-8) in 20 variants located at the CFH gene. SNP rs193053835 showed the most significant protective effect (Odds Ratio (OR) = 0.62, 95% confidence interval (C.I.) = 0.52-0.73; P-value = 9.62 × 10-9). 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, P-value = 3.25 × 10-8). Theoretical predictions point to a functional effect of rs1065489, which may be directly responsible for protection against MD. Our study confirms the association of CFH with susceptibility to MD and strengthens the importance of this link in understanding pathogenesis of the disease.
metadata.dc.identifier.doi: 10.1038/srep35842
Appears in Collections:Producción 2020

Files in This Item:
File SizeFormat 
PMC5090968.pdf638,18 kBAdobe PDFView/Open

This item is protected by original copyright

This item is licensed under a Creative Commons License Creative Commons