Department of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, Keppel Street, London WC1E 7HT, UK.
Rheumatology (Oxford). 2011 Jul;50(7):1206-10. doi: 10.1093/rheumatology/keq456. Epub 2011 Feb 4.
To evaluate FCGR3B copy number variation (CNV) in African and European populations and to determine if FCGR3B copy number is associated with SLE and SLE nephritis risk in Afro-Caribbeans, adjusting for African genetic ancestry.
We estimated FCGR3B to determine if there were ethnic variations in CNV (unrelated unadmixed Europeans and Africans). We then examined CNV at FCGR3B in relation to SLE and SLE nephritis within a case-control collection of 134 cases of SLE (37 with SLE nephritis) and 589 population controls of mainly Afro-Caribbean descent resident in Trinidad.
We found a significant difference in copy number FCGR3B distribution between unadmixed African and European UK cohorts, with 27 (29%) vs 3 (5%) for those with low (0 or 1) copy FCGR3B, respectively, P = 0.002. In a Trinidadian SLE case-control study, low FCGR3B CNV was associated with SLE risk 1.7 (95% CI 1.1, 2.8), P = 0.02, which remained after adjustment for African genetic ancestry; odds ratios (ORs) 1.7 (95% CI 1.0, 2.8), P = 0.04.
Our studies suggest that FCGR3B low copy number is associated with SLE risk in Afro-Caribbean populations independently of CNV due to African ancestry.
评估非洲和欧洲人群中 FCGR3B 拷贝数变异（CNV），并确定 FCGR3B 拷贝数是否与 Afro-Caribbeans 中的系统性红斑狼疮（SLE）和 SLE 肾炎风险相关，同时调整非洲遗传背景。
我们估计了 FCGR3B，以确定 CNV 是否存在种族差异（无相关非混合欧洲人和非洲人）。然后，我们在 134 例 SLE 病例（37 例 SLE 肾炎）和 589 名主要为 Afro-Caribbean 血统的特立尼达居民的病例对照集合中，检查了 FCGR3B 中的 CNV 与 SLE 和 SLE 肾炎的关系。
我们发现未混合的非洲和欧洲英国队列之间 FCGR3B 分布的拷贝数 CNV 存在显著差异，分别为低（0 或 1）拷贝数 FCGR3B 的 27（29%）和 3（5%），P=0.002。在特立尼达的 SLE 病例对照研究中，低 FCGR3B CNV 与 SLE 风险相关，比值比（OR）为 1.7（95%CI 1.1，2.8），P=0.02，调整非洲遗传背景后仍然如此；ORs 为 1.7（95%CI 1.0，2.8），P=0.04。
我们的研究表明，FCGR3B 低拷贝数与 Afro-Caribbean 人群中的 SLE 风险相关，独立于非洲遗传背景引起的 CNV。
