Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Davila, S; Wright, VJ; Khor, CC; Sim, KS; Binder, A; Breunis, WB; Inwald, D; Nadel, S; Betts, H; Carrol, ED; de Groot, R; Hermans, PW; Hazelzet, J; Emonts, M; Lim, CC; Kuijpers, TW; Martinon-Torres, F; Salas, A; Zenz, W; Levin, M; Hibberd, ML; International Meningococcal Genetics Consortium.
Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
Nat Genet. 2010; 42(9):772-776
Doi: 10.1038/ng.640
Web of Science
PubMed
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- Co-authors Med Uni Graz
- Binder Alexander
- Zenz Werner
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- Abstract:
- Meningococcal disease is an infection caused by Neisseria meningitidis. Genetic factors contribute to host susceptibility and progression to disease, but the genes responsible for disease development are largely unknown. We report here a genome-wide association study for host susceptibility to meningococcal disease using 475 individuals with meningococcal disease (cases) and 4,703 population controls from the UK. We performed, in Western European and South European cohorts (consisting of 968 cases and 1,376 controls), two replication studies for the most significant SNPs. A cluster of complement factor SNPs replicated independently in both cohorts, including SNPs within complement factor H (CFH) (rs1065489 (p.936D<E), P = 2.2 x 10(-11)) and in CFH-related protein 3 (CFHR3)(rs426736, P = 4.6 x 10(-13)). N. meningitidis is known to evade complement-mediated killing by the binding of host CFH to the meningococcal factor H-binding protein (fHbp). Our study suggests that host genetic variation in these regulators of complement activation plays a role in determining the occurrence of invasive disease versus asymptomatic colonization by this pathogen.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Case-Control Studies -
- Child -
- Child, Preschool -
- Complement Factor H - genetics
- Female -
- Genetic Linkage -
- Genetic Predisposition to Disease -
- Genome-Wide Association Study -
- Host-Pathogen Interactions - genetics
- Host-Pathogen Interactions - immunology
- Humans -
- Infant -
- Infant, Newborn -
- Male -
- Meningococcal Infections - genetics
- Meningococcal Infections - immunology
- Middle Aged -
- Neisseria meningitidis - immunology
- Polymorphism, Single Nucleotide -
- Young Adult -