MCP-1基因启动子区-2518位G/A多态性与瘢痕疙瘩的相关性分析  

Association of MCP-1 Gene Promoter -2518 G/A Polymorphism with Keloid

作　　者：刘勇[1] 何春涤[1] 朱红[1] 庞莹[1] 周春林[1] 王凯波[1] 王雅坤[1] 姜奕[1] 陈洪铎[1] 

机构地区：[1]中国医科大学附属第一医院皮肤科,沈阳110001

出　　处：《癌变．畸变．突变》2007年第4期263-266,共4页Carcinogenesis,Teratogenesis & Mutagenesis

基　　金：国家"十五"重大科技专项:人类重大疾病相关基因的研究-重大疾病遗传资源的收集;保存与利用(2002BA711A08)子课题(序号:28)

摘　　要：背景与目的：探讨单核细胞趋化蛋白-1（monocyte chemoattractant protein-1,MCP-1）基因启动子区-2518G/A多态性与瘢痕疙瘩发病风险的关系。材料与方法：以92例瘢痕疙瘩患者和180例性别、年龄匹配的正常人为对象进行病例-对照研究,采用聚合酶链式反应-限制性片段长度多态性（polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP）技术结合DNA测序对MCP-1基因启动子区-2518G/A多态性进行分析。结果：MCP-1基因-2518G/A等位基因和基因型频率在瘢痕疙瘩组和正常对照组间的分布无显著性差异（P值分别为0.419和0.415）。瘢痕疙瘩组分层后显示,多发性瘢痕疙瘩患者中A等位基因携带者频率为83.8%,明显高于皮损单发者（63.6%）（P=0.035,OR=2.952,95%CI：1.051~8.290）。结论：MCP-1基因-2518位A等位基因的存在可能与多发性瘢痕疙瘩的形成和发展有一定的相关性。BACKGROUND ＆ AIM： To evaluate the potential association between MCP-1 gene promoter -2518 G/A polymorphism and keloid development in Chinese. MATERIALS AND METHODS： The distribution of the -2518 G/A polymorphism of MCP-1 gene was analyzed from the 92 patients with keloid and 180 unrelated healthy controls with polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） analysis and DNA sequence analysis. RESULTS： No significant difference was observed between the patients and healthy controls in the distribution of allelic and genotypic frequencies of the 2518 G/A MCP-1 gene polymorphism（P were 0.419 and 0.415,respectively）. When patients were stratified according to the clinical features of keloid, a significant increase in the frequency of the carriers of the A allele was found among patients with multiple site scars compared with those with single site scar （P = 0. 035, 0R=2.952, 95% CI： 1.051-8.290） . CONCLUSION： In this study, the A allele of MCP-1 gene promoter -2518 may be associated with the formation and development of multiple keloids.

关 键 词：瘢痕疙瘩 单核细胞趋化蛋白-1基因 单核苷酸多态性 聚合酶链式反应-限制性片段长度多态性 遗传异质性 

分 类 号：Q346.5[生物学—遗传学]