Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis.

摘要: Fcγ receptors are a family of cell-surface that expressed by host different innate and adaptive immune cells mediate inflammatory responses binding the Fc portion immunoglobulin G (IgG). In humans, five low affinity encoded genes FCGR2A, FCGR2B, FCGR2C, FCGR3A FCGR3B, which located in 82.5kb segmental tandem duplication on chromosome 1q23.3, shows extensive copy number variation. Deletions FCGR3B have been suggested to increase risk diseases such as systemic lupus erythematosus rheumatoid arthritis. this study we identify deletion breakpoints alleles UK population endogamous Native American populations, show some but not all likely be identical-by-descent. We also localise breakpoint, confirming mechanism CNV generation is non-allelic homologous recombination, several with gene conversion events using fosmid sequencing data. use information structure distinguish deletions from whole genome aCGH Reanalysis published data supports association increased arthritis large cohort 1982 cases 3271 controls (Odds Ratio 1.61, p=2.9x10-3).