Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.

doi:10.1016/j.ajhg.2022.08.001

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Article

Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.

American journal of human genetics - 1 Sept 2022

Kumar Vikrant, Pouw Richard B, Autio Matias I, Sagmeister Manfred G, Phua Zai Yang, Borghini Lisa, Wright Victoria J, Hoggart Clive, Pan Bangfen, Tan Antson Kiat Yee, Binder Alexander, Brouwer Mieke C, Pinnock Ellie, De Groot Ronald, Hazelzet Jan, Emonts Marieke, Van Der Flier Michiel, Reiter Karl, Nöthen Markus M, Hoffmann Per, Schlapbach Luregn J, Bellos Evangelos, Anderson Suzanne, Secka Fatou, Martinón-Torres Federico, Salas Antonio, Fink Colin, Carrol Enitan D, Pollard Andrew J, Coin Lachlan J, Zenz Werner, Wouters Diana, Ang Lay Teng, Hibberd Martin L, Levin Michael, Kuijpers Taco W, Davila Sonia

Abstract excerpt

Neisseria meningitidis protects itself from complement-mediated killing by binding complement factor H (FH). Previous studies associated susceptibility to meningococcal disease (MD) with variation in CFH, but the causal variants and underlying mechanism remained unknown. Here we attempted to define the association more accurately by sequencing the CFH-CFHR locus and imputing missing genotypes in previously...

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Identifiers

PMID: 36007525
DOI: 10.1016/j.ajhg.2022.08.001
PMCID: PMC9502058

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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