FCGR2C genotyping by pyrosequencing reveals linkage disequilibrium with FCGR3A V158F and FCGR2A H131R polymorphisms in a Caucasian population |
| |
Authors: | Julien Lejeune Beno?t Piègu Valérie Gouilleux-Gruart Marc Ohresser Hervé Watier Gilles Thibault |
| |
Institution: | 1.CNRS UMR 7292; Génétique; Immunothérapie; Chimie et Cancer; Tours, France;2.Université François-Rabelais de Tours; Tours, France;3.CHRU de Tours; Laboratoire d’immunologie; Tours, France |
| |
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. |
| |
Keywords: | receptors for the Fc portion of IgG immune thrombocytopenic purpura linkage disequilibrium |
|
|