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FCGR2C genotyping by pyrosequencing reveals linkage disequilibrium with FCGR3A V158F and FCGR2A H131R polymorphisms in a Caucasian population

Abstract : The FCGR3A-V158F and FCGR2A-H131R polymorphisms are associated with clinical responses to therapeutic mAbs and with immune thrombocytopenic purpura (ITP). The FCGR2C-ORF/STOP polymorphism, controlling FcγRIIC expression on natural killer cells and therefore FcγRIIC-mediated antibody dependent cell-mediated cytotoxicity, is also associated with ITP. Using a new pyrosequencing assay to determine this polymorphism in a control population, we observed the expected allele frequencies (ORF:12.6%) and percentages of individuals with a single copy (10.0%) or 3 copies (12.1%) of FCGR2C, or with at least one FCGR2C-ORF allele (20.1%). No association of FCGR2C copy number variations with the FCGR3A-V158F or FCGR2A-H131R genotype was detected. More importantly, our results demonstrate a strong and a weaker linkage disequilibrium associating the FCGR2C-ORF allele with the FCGR3A-158V and the FCGR2A-131H allele, respectively.
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https://hal-univ-tours.archives-ouvertes.fr/hal-02425422
Contributor : Valérie Gouilleux <>
Submitted on : Monday, December 30, 2019 - 2:51:15 PM
Last modification on : Friday, January 10, 2020 - 4:12:21 PM

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Julien Lejeune, Benoit Piégu, Valérie Gouilleux-Gruart, Marc Ohresser, Herve Watier, et al.. FCGR2C genotyping by pyrosequencing reveals linkage disequilibrium with FCGR3A V158F and FCGR2A H131R polymorphisms in a Caucasian population. mAbs, Taylor & Francis, 2014, 4 (6), pp.784-787. ⟨10.4161/mabs.22287⟩. ⟨hal-02425422⟩

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