Imperial College London
Alternate

myrsini kaforou

Faculty of Medicine, Department of Infectious Disease

Senior Lecturer in Bioinformatics
 
 
 
//

Contact

 

+44 (0)20 7594 3915m.kaforou

 
 
//

Location

 

231Medical SchoolSt Mary's Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Martinón-Torres:2016:10.1038/srep35842,
author = {Martinón-Torres, F and Png, E and Khor, CC and Davila, S and Wright, VJ and Sim, KS and Vega, A and Fachal, L and Inwald, D and Nadel, S and Carrol, ED and Martinón-Torres, N and Alonso, SM and Carracedo, A and Morteruel, E and López-Bayón, J and Torre, AC and Monge, CC and de, Aguilar PA and Torné, EE and Martínez-Padilla, MD and Martinón-Sánchez, JM and Levin, M and Hibberd, ML and Salas, A and ESIGEM, network and ESPID, meningococcal consortium UK and EUCLIDS, consortium members - Imperial College London wwweuclids-projecteu},
doi = {10.1038/srep35842},
journal = {Scientific Reports},
title = {Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies},
url = {http://dx.doi.org/10.1038/srep35842},
volume = {6},
year = {2016}
}
Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - 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.
AU  - Martinón-Torres,F
AU  - Png,E
AU  - Khor,CC
AU  - Davila,S
AU  - Wright,VJ
AU  - Sim,KS
AU  - Vega,A
AU  - Fachal,L
AU  - Inwald,D
AU  - Nadel,S
AU  - Carrol,ED
AU  - Martinón-Torres,N
AU  - Alonso,SM
AU  - Carracedo,A
AU  - Morteruel,E
AU  - López-Bayón,J
AU  - Torre,AC
AU  - Monge,CC
AU  - de,Aguilar PA
AU  - Torné,EE
AU  - Martínez-Padilla,MD
AU  - Martinón-Sánchez,JM
AU  - Levin,M
AU  - Hibberd,ML
AU  - Salas,A
AU  - ESIGEM,network
AU  - ESPID,meningococcal consortium UK
AU  - EUCLIDS,consortium members - Imperial College London wwweuclids-projecteu
DO  - 10.1038/srep35842
PY  - 2016///
SN  - 2045-2322
TI  - Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies
T2  - Scientific Reports
UR  - http://dx.doi.org/10.1038/srep35842
UR  - http://www.ncbi.nlm.nih.gov/pubmed/27805046
UR  - http://hdl.handle.net/10044/1/42665
VL  - 6
ER  -
Download