人趋化因子CC3配体样蛋白1基因拷贝数变异与强直性脊柱炎易感性的关联分析  

Association between the CCL3L1 gene copy number variation and susceptibility to ankylosing spondylitis

作　　者：张立[1] 蔡国旗 李建平[1] 张旭[2] 王蒙蒙[2] 刘萍[1] 方佩斐 徐彬[1] 徐胜前[3] 潘发明[2] Zhang Li Cai Guoqi Li Jianping Zhang Xu Wang Mengmeng Liu Ping Fang Peifei Xu Bin Xu Shengqian Pan Faming(Anhui Medical Genetics Center, Eugenic and Superior Nurture, Anhui Medical College, Hefei 230061, China)

机构地区：[1]安徽医学高等专科学校遗传医学中心(安徽省优生优育遗传医学中心分子实验室),合肥230061 [2]安徽医科大学公共卫生学院流行病与卫生统计学系 [3]安徽医科大学第一附属医院风湿免疫科

出　　处：《中华风湿病学杂志》2017年第7期471-475,I0002,共6页Chinese Journal of Rheumatology

基　　金：国家自然科学基金面上项目（81571572）;安徽省高校省级自然科学研究重点项目（KJ2014A127）.

摘　　要：目的探索人趋化因子CC3配体样蛋白1（CCL3L1）基因拷贝数变异是否影响AS的遗传易感性。方法研究共纳入来自安徽医科大学第一附属医院风湿免疫科门诊的405例AS患者，以及来自本院体检中心的401名健康对照。使用EDTA管收取外周血并提取DNA，-80℃冷藏备用，同时使用调查表记录患者一般情况及临床指标。CCL3L1拷贝数变异采用基于多重扩增PCR的AccuCopyTM技术进行检测，并随机选择50个样本使用荧光定量（Quantitative，q）-PCR的方法进行拷贝数验证，采用t检验和χ2检验及二元Logisitic回归分析进行数据分析。结果病例组与对照组的年龄、性别经检验差异均无统计学意义（t=1．77，P=0．076，χ2=1．14，P=0．289）。CCL3L1基因拷贝数范围为0～13（中位数4），按照中位数将拷贝数分为低、中、高3组后，结果显示2组间拷贝数变异差异无统计学意义（χ2=0．591，P=0．669）。此外，结合临床指标进行的回归分析也未发现CCL3L1基因拷贝数变异与AS疾病活动度或功能指数有关联（χ2=0．341，P=0．804；χ2=0．472，P=-0．774）。结论CCL3L1基因拷贝数变异可能与AS遗传易感性无关。Objective This study aimed to investigate whether the copy numbers of the CCL3L1 （Chemokine C-C-Motif Ligand 3 Like Protein 1） gene were associated with susceptibility to ankylosing spondylitis （AS）. Methods A total of 806 Chinese individuals including 405 AS patients and 401 healthy controls were enrolled..The CCL3L1 gene copy number was measured by a custom-by-design Multiplex AccuCopyTM Kit based on a muhiplex fluorescence competitive polymerase chain reaction （PCR） principle, and 50 samples were randomly selected using the fluorescent quantitative PCR method to verify copy number. Main statistical method was t test, chi-square test and logistic regression model. Results There were no statistically significant differences between the ease group and control group in age and gender （t=1.77, P=0.076,χ2=1.14, P=0.289）. The copy number of CCL3LI gene ranged from 0 to 13 in both AS patients and the controls. After copy numbers were classified into 3 categories by 3, we did not find significant difference between the two groups （χ2=0.591, P=0.669）. And regression analyses also did not support the hypothesis that CCL3L1 gene copy number variation （CNV） could be an impact factor to the severity or function indexes of AS patients （χ2= 0.341, P=0.804 and χ2=0.472, P=0.774, respectively）. Conclusion We suggest that the copy number of the CCL3L1 gene does not have a role in the susceptibility and the severity or function to AS.

关 键 词：脊柱炎  强直性 趋化因子CCL3 DNA拷贝数变异 

分 类 号：R593.23[医药卫生—内科学]