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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。
Objective: To investigate the relationship between the single nucleotide polymorphisms (SNPs) of vascular endothelial growth factor (VEGF) gene and the susceptibility to systemic lupus erythematosus (SLE) in northern Han Chinese. Methods: The SNPs of peripheral blood VEGF in 44 patients with SLE and 100 normal controls were detected by Sequenom time-of-flight mass spectrometry. The SNPs of 6 VEGF genes were selected: rs2010963, rs3024994, rs3025000, rs3025010, rs3025035 and rs833070 Type, using SPSS 11.5 software for statistical analysis of data. Results: There was no significant difference in the genotype frequencies and allele frequencies of rs2010963, rs3024994, rs3025000, rs3025010 and rs3025035 between SLE patients and normal controls (P> 0.05). The frequency of VEGF rs833070 A allele Was significantly higher than the control group (31.2% vs20%, χ2 = 4.547, P = 0.033, OR = 1.818, 95% CI 1.045-3.162). The frequency of rs833070 G allele was significantly different between arthritis and non-arthritis groups in SLE group (56% vs80.4%, χ2 = 5.613, P = 0.018, OR = 0.336, 95% CI 0.134-0.843), rs833070 The frequency of GG genotype was significantly lower than that of the non-arthritis group (GGvsAG + AA: 28% vs65.2%, χ2 = 6.684, P = 0.010, OR = 0.207, 95% CI 0.061-0.705) There was no correlation between allele frequencies and ds-DNA antibody, anti-Sm antibody, lupus nephritis and interstitial lung disease in the patients’ serum (P> 0.05). Conclusion: The rs833070 SNP of VEGF gene is associated with the susceptibility to SLE in northern Han Chinese. The rs833070 A allele may increase the susceptibility to SLE. The rs833070 GG genotype and G allele may be SLE partners Protective gene for arthritis.