VEGF基因单核苷酸多态性与中国北方汉族人SLE易感性的相关性研究  

A study on relationship between single nucleotide polymorphisms of vascular endothelial growth factor gene and susceptibility to systemic lupus erythematosus in China north Han population

作　　者：吕昊哲[1,2] 林涛[1,3] 朱向阳[1] 张金涛[1] 鲁静[1] 

机构地区：[1]中国医科大学附属第一医院风湿免疫科,辽宁沈阳110001 [2]大庆油田总医院风湿免疫科,黑龙江大庆163001 [3]呼伦贝尔市人民医风湿免疫科,内蒙古海拉尔021008

出　　处：《细胞与分子免疫学杂志》2010年第12期1189-1192,共4页Chinese Journal of Cellular and Molecular Immunology

基　　金：辽宁省教育厅高校科研项目资助计划(20060997)

摘　　要：目的:研究血管内皮生长因子(VEGF)基因单核苷酸多态性(SNP)与中国北方汉族人系统性红斑狼疮(SLE)易感性的相关性。方法:应用Sequenom飞行时间质谱技术检测44例SLE患者和100例正常对照者外周血VEGF基因的SNPs,选择6个VEGF基因的SNP位点:rs2010963、rs3024994、rs3025000、rs3025010、rs3025035和rs833070进行基因分型,用SPSS 11.5软件对数据资料进行统计分析。结果:SLE患者VEGF多态性位点rs2010963、rs3024994、rs3025000、rs3025010、rs3025035的基因型频率及等位基因频率与正常对照组比较差异无统计学意义(P>0.05);VEGFrs833070 A等位基因频率明显高于对照组(31.2%vs20%,χ2=4.547,P=0.033,OR=1.818,95%CI 1.045-3.162)。rs833070 G等位基因在SLE组中关节炎与无关节炎组中频率有显著差异(56%vs80.4%,χ2=5.613,P=0.018,OR=0.336,95%CI 0.134-0.843),rs833070 GG基因型频率明显低于无关节炎组(GGvsAG+AA:28%vs65.2%,χ2=6.684,P=0.010,OR=0.207,95%CI 0.061-0.705),而VEGF rs833070位点基因型、等位基因型的频率与患者血清中ds-DNA抗体、抗Sm抗体、狼疮性肾炎、间质性肺疾病的发生无相关性(P>0.05)。结论:VEGF基因SNP点rs833070与北方汉族人SLE发病易感性相关,rs833070位点A等位基因可能增加了SLE患病的易感性,而rs833070 GG基因型及G等位基因型可能是SLE合伴关节炎的保护性基因。AIM： To investigate relationship between single nucleotide polymorphism（SNP） of VEGF gene and susceptibility to systemic lupus erythematosus（SLE） in China north population.METHODS： Six VEGF SNPs（rs2010963,rs3024994,rs3025000,rs3025010,rs3025035 and rs833070） of forty-four patients with SLE and one hundred healthy controls were examined by Sequenom chip-based MALDI-TOF mass spectomery platform.Different genotypes were analyzed statistically by SPSS 11.5.RESULTS： There was no significant difference between SLE patients and controls in frequency of rs2010963,rs3024994,rs3025000,rs3025010,rs3025035 genotype and allele（P0.05）.The frequency of rs833070 A allele was significantly higher in SLE than that in controls.（31.2% vs 20%,χ2=4.547,P=0.033,OR=1.818,95% CI 1.045-3.162）.In the patient with SLE,rs833070 G decreased the susceptibility of arthritis（56% vs 80.4%,χ2=5.613,P=0.018,OR=0.336,95% CI 0.134-0.843）,while the genotype of rs833070 GG significantly decreased the susceptibility to arthritis（GGvsAG＋AA： 28% vs 65.2%,χ2=6.684,P=0.010,OR=0.207,95% CI 0.061-0.705）.CONCLUSION： VEGF rs833070 A may represent an inreased susceptibility to SLE in China north Han population.VEGF rs833070 G and rs833070 GG may play protective roles in the case of lupus arthritis.

关 键 词：系统性红斑狼疮 血管内皮生长因子 单苷酸多态性 

分 类 号：R394.3[医药卫生—医学遗传学]