Please use this identifier to cite or link to this item: https://doi.org/10.1038/srep35842
Title: Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies
Authors: Martinón-Torres, F
Png, E
Khor, C.C 
Davila, S 
Wright, V.J
Keywords: complement factor H
Caucasian
factual database
gene locus
genetics
genome-wide association study
genotype
human
innate immunity
meningococcosis
meta analysis
odds ratio
pathology
single nucleotide polymorphism
Spain
Complement Factor H
Databases, Factual
European Continental Ancestry Group
Genetic Loci
Genome-Wide Association Study
Genotype
Humans
Immunity, Innate
Meningococcal Infections
Odds Ratio
Polymorphism, Single Nucleotide
Spain
Issue Date: 2016
Citation: Martinón-Torres, F, Png, E, Khor, C.C, Davila, S, Wright, V.J (2016). Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies. Scientific Reports 6 : 35842. ScholarBank@NUS Repository. https://doi.org/10.1038/srep35842
Rights: Attribution 4.0 International
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. © 2016 The Author(s).
Source Title: Scientific Reports
URI: https://scholarbank.nus.edu.sg/handle/10635/178847
ISSN: 20452322
DOI: 10.1038/srep35842
Rights: Attribution 4.0 International
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