Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2010-8-30
pubmed:abstractText
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.
pubmed:grant
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1546-1718
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
42
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
772-6
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:20694013-Adolescent, pubmed-meshheading:20694013-Adult, pubmed-meshheading:20694013-Case-Control Studies, pubmed-meshheading:20694013-Child, pubmed-meshheading:20694013-Child, Preschool, pubmed-meshheading:20694013-Complement Factor H, pubmed-meshheading:20694013-Female, pubmed-meshheading:20694013-Genetic Linkage, pubmed-meshheading:20694013-Genetic Predisposition to Disease, pubmed-meshheading:20694013-Genome-Wide Association Study, pubmed-meshheading:20694013-Host-Pathogen Interactions, pubmed-meshheading:20694013-Humans, pubmed-meshheading:20694013-Infant, pubmed-meshheading:20694013-Infant, Newborn, pubmed-meshheading:20694013-Male, pubmed-meshheading:20694013-Meningococcal Infections, pubmed-meshheading:20694013-Middle Aged, pubmed-meshheading:20694013-Neisseria meningitidis, pubmed-meshheading:20694013-Polymorphism, Single Nucleotide, pubmed-meshheading:20694013-Young Adult
pubmed:year
2010
pubmed:articleTitle
Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
pubmed:affiliation
Infectious Diseases, Genome Institute of Singapore, Singapore. sonia@gis.a-star.edu.sg
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't