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No Association betweenFCγR3BCopy Number Variation and Susceptibility to Biopsy-Proven Giant Cell Arteritis

机译:FCγR3B拷贝数变异与经活检证实的巨细胞动脉炎的敏感性之间无关联

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Objective. To determine the relationship between FCGR3B gene copy number variation (CNV) and biopsy proven giant cell arteritis (GCA).Methods.FCGR3BCNV 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)FCGR3Bcopy number was comparable between GCA patients (9/139=6.5%) and controls (10/162=6.2%), as was the frequency of high (3+)FCGR3Bcopy number (15/130 (10.8%) in GCA patients versus 13/162 (8.0%) in controls). Overall there was no evidence thatFCGR3BCNV frequencies differed between GCA patients and controls (χ2=0.75,df=2,P=0.69).Conclusion.FCGR3BCNV is not associated with GCA; however, replicate studies are required.
机译:目的。方法确定FCGR3B基因拷贝数变异(CNV)与活检证实的巨细胞性动脉炎(GCA)之间的关系。方法。使用双重qPCR测定法和RNase P作为对139例澳大利亚活检证实的GCA患者和162例人群匹配的对照进行测定的FCGR3BCNV。参考基因。使用Copy Caller软件(1.0版,美国应用生物系统公司)确定拷贝数。为了分析目的,将CNV基因型分为3组(<2、2、3+),并使用logistic回归进行分析。所有GCA患者的颞动脉活检阳性,最常见的症状是视觉障碍和颞部头痛。活检患者的平均年龄为74岁(51-94岁),女性为88/139(63%)。低(<2)FCGR3B拷贝数的频率与GCA患者(9/139 = 6.5%)和对照(10/162 = 6.2%)相当,高(3+)FCGR3B拷贝数的频率(15/130) (10.8%)在GCA患者中,而在对照组中则是13/162(8.0%)。总体而言,没有证据表明GCA患者和对照组之间FCGR3BCNV频率存在差异(χ2= 0.75,df = 2,P = 0.69)。但是,需要重复研究。

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