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. 2010 Sep;42(9):772-6.
doi: 10.1038/ng.640. Epub 2010 Aug 8.

Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease

Sonia Davila  1 , Victoria J Wright, Chiea Chuen Khor, Kar Seng Sim, Alexander Binder, Willemijn B Breunis, David Inwald, Simon Nadel, Helen Betts, Enitan D Carrol, Ronald de Groot, Peter W M Hermans, Jan Hazelzet, Marieke Emonts, Chui Chin Lim, Taco W Kuijpers, Federico Martinon-Torres, Antonio Salas, Werner Zenz, Michael Levin, Martin L Hibberd; International Meningococcal Genetics Consortium
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Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease

Sonia Davila et al. Nat Genet. 2010 Sep.

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.

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