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Genetic Variation of the Fc Gamma Receptor 3B Gene and Association with Rheumatoid Arthritis

By Rute B. Marques, Mohamed M. Thabet, Stefan J. White, Jeanine J. Houwing-duistermaat, Aleida M. Bakker, Gert-jan Hendriks, Ra Zhernakova, Tom W. Huizinga, Annette H. Van Der, Helm-van Mil and Rene E. Toes

Abstract

Background: Fc gamma receptors (FccRs) play a crucial role in immunity by linking IgG antibody-mediated responses with cellular effector and regulatory functions. Genetic variants in these receptors have been previously identified as risk factors for several chronic inflammatory conditions. The present study aimed to investigate the presence of copy number variations (CNVs) in the FCGR3B gene and its potential association with the autoimmune disease rheumatoid arthritis (RA). Methodology/Principal Findings: CNV of the FCGR3B gene was studied using Multiplex Ligation Dependent Probe Amplification (MLPA) in 518 Dutch RA patients and 304 healthy controls. Surprisingly, three independent MLPA probes targeting the FCGR3B promoter measured different CNV frequencies, with probe#1 and #2 measuring 0 to 5 gene copie

Year: 2013
OAI identifier: oai:CiteSeerX.psu:10.1.1.352.1323
Provided by: CiteSeerX
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