Lude Franke, Hanane el Bannoudi, Diahann T S L Jansen, Klaas Kok, Gosia Trynka, Dorothee Diogo, Morris Swertz, Karin Fransen, Rachel Knevel, Javier Gutierrez-Achury, Lisbeth Ärlestig, Jeffrey D Greenberg, Joel Kremer, Dimitrios A Pappas, Alexandros Kanterakis, Rinse K Weersma, Annette H M van der Helm-van Mil, Viktor Guryev, Solbritt Rantapää-Dahlqvist, Peter K Gregersen, Robert M Plenge, Cisca Wijmenga, Tom W-J Huizinga, Andreea Ioan-Facsinay, Rene E M Toes, Alexandra Zhernakova
Segmental duplications (SDs) comprise about 5% of the human genome and are enriched for immune genes. SD loci often show copy numbers variations (CNV), which are difficult to tag with genotyping methods. CNV in the Fcγ receptor region (FCGR) has been suggested to be associated with rheumatic diseases. The objective of this study was to delineate association of FCGR-CNV with rheumatoid arthritis (RA), coeliac disease and Inflammatory bowel disease incidence. We developed a method to accurately quantify CNV in SD loci based on the intensity values from the Immunochip platform and applied it to the FCGR locus...
February 2016: European Journal of Human Genetics: EJHG