Dunstan Emma, Lester Sue, Black Rachel, Rischmueller Maureen, Chan Helen, Hewitt Alex W, Hill Catherine L
Rheumatology Department, The Queen Elizabeth Hospital, Woodville South, SA 5011, Australia ; The Health Observatory, Discipline of Medicine, The University of Adelaide, Adelaide, SA 5005, Australia.
Arthritis. 2013;2013:514914. doi: 10.1155/2013/514914. Epub 2013 Aug 20.
Objective. To determine the relationship between FCGR3B gene copy number variation (CNV) and biopsy proven giant cell arteritis (GCA). Methods. FCGR3B CNV was determined in 139 Australian biopsy proven GCA patients and 162 population matched controls, using a duplex qPCR assay and RNase P as the reference gene. Copy number was determined using Copy Caller software (v.1.0, Applied Biosystems, USA). CNV genotypes were classified into 3 groups (<2, 2, 3+) for analysis purposes, and analysis was performed using logistic regression. Results. All GCA patients had a positive temporal artery biopsy, and the most common presenting symptoms were visual disturbance and temporal headache. The mean age of patients at biopsy was 74 years (range 51-94) and 88/139 (63%) were female. The frequency of low (<2) FCGR3B copy number was comparable between GCA patients (9/139 = 6.5%) and controls (10/162 = 6.2%), as was the frequency of high (3+) FCGR3B copy number (15/130 (10.8%) in GCA patients versus 13/162 (8.0%) in controls). Overall there was no evidence that FCGR3B CNV frequencies differed between GCA patients and controls (χ (2) = 0.75, df = 2, P = 0.69). Conclusion. FCGR3B CNV is not associated with GCA; however, replicate studies are required.
目的。确定FCGR3B基因拷贝数变异（CNV）与经活检证实的巨细胞动脉炎（GCA）之间的关系。方法。采用双重定量聚合酶链反应检测法并以核糖核酸酶P作为参照基因，对139例经澳大利亚活检证实的GCA患者及162例匹配的对照人群进行FCGR3B CNV检测。使用Copy Caller软件（版本1.0，美国应用生物系统公司）确定拷贝数。为便于分析，将CNV基因型分为3组（<2、2、3 +），并采用逻辑回归进行分析。结果。所有GCA患者颞动脉活检均呈阳性，最常见的症状为视力障碍和颞部头痛。活检时患者的平均年龄为74岁（范围51 - 94岁），139例患者中有88例（63%）为女性。GCA患者中FCGR3B拷贝数低（<2）的频率（9/139 = 6.5%）与对照组（10/162 = 6.2%）相当，FCGR3B拷贝数高（3 +）的频率也相当（GCA患者中为15/130（10.8%），对照组中为13/162（8.0%））。总体而言，没有证据表明GCA患者与对照组之间FCGR3B CNV频率存在差异（χ² = 0.75，自由度 = 2，P = 0.69）。结论。FCGR3B CNV与GCA无关；然而，需要进行重复研究。
