作者
Raheleh Rahbari, Luciana W Zuccherato, German Tischler, Belinda Chihota, Hasret Ozturk, Sara Saleem, Eduardo Tarazona‐Santos, Lee R Machado, Edward J Hollox
发表日期
2017/4
期刊
Human mutation
卷号
38
期号
4
页码范围
390-399
简介
Fcγ receptors are a family of cell–surface receptors that are expressed by a host of different innate and adaptive immune cells, and mediate inflammatory responses by binding the Fc portion of immunoglobulin G. In humans, five low‐affinity receptors are encoded by the genes FCGR2A, FCGR2B, FCGR2C, FCGR3A, and FCGR3B, which are located in an 82.5‐kb segmental tandem duplication on chromosome 1q23.3, which shows extensive copy‐number variation (CNV). Deletions of FCGR3B have been suggested to increase the risk of inflammatory diseases such as systemic lupus erythematosus and rheumatoid arthritis (RA). In this study, we identify the deletion breakpoints of FCGR3B deletion alleles in the UK population and endogamous native American population, and show that some but not all alleles are likely to be identical‐by‐descent. We also localize a duplication breakpoint, confirming that the …
引用总数
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