【摘要】 目的观察下肢动脉硬化闭塞症(ASOLL)患者外周血肝细胞核因子1A(HNF1A)基因rs1169288、rs2259820、rs2464196位点多态性情况,探讨其与ASOLL的关系。方法选择ASOLL患者350例(病例组),其中病情严重程度为Ⅰ期64例、Ⅱ期136例、Ⅲ期98例、Ⅳ期52例,同时选取体检健康者200例作为对照组。检测两组外周血HNF1A基因rs1169288、rs2259820、rs2464196位点多态性,同时检测血脂及血清炎性因子CRP、IL-2、IL-10水平,采用多因素Logistic回归分析HNF1A基因多态性与ASOLL的关系。结果病例组外周血HNF1A基因rs1169288位点TT、GT基因型占比高于对照组(P均<0.01),两组rs2259820、rs2464196位点的基因型占比比较差异无统计学意义。病例组中Ⅰ、Ⅱ、Ⅲ、Ⅳ期患者HNF1A基因rs1169288位点TT、GT基因型分布及T等位基因频率逐渐升高(P均<0.05)。Logistic回归分析结果显示,HNF1A基因rs1169288位点TT基因型是ASOLL发病的独立危险因素(OR=14.692,95%CI:4.196～47.104,P<0.01)。结论 HNF1A基因SNP位点rs1169288与ASOLL的发病密切相关,其TT基因型是ASOLL发病的独立危险因素。更多还原

【Abstract】 Objective To observe the rs1169288, rs2259820, and rs2464196 polymorphisms of HNF1 A gene in the peripheral blood of patients with arteriosclerosis obliterans of lower limbs(ASOLL) and to investigate their relationships with ASOLL.Methods Totally 350 patients with ASOLL were selected as the case group, including four types: stageⅠ 64 cases, stageⅡ 136 cases, stageⅢ 98 cases, and stageⅣ 52 cases.Meanwhile, 200 healthy people were recruited as the control group. The rs1169288, rs2259820, and rs2464196 polymorphisms of HNF1 A gene in the peripheral blood were detected in the two groups, and the levels of serum lipids, inflammatory factor C-reaction protein(CRP), interleukin-2(IL-2), and interleukin-10(IL-10) were detected simultaneously. The relationship between HNF1 A gene polymorphisms and ASOLL was determined by multi-factor Logistic regression analysis.Results The percentages of TT and GT genotypes from rs1169288 site of HNF1 A gene in the case group were significantly higher than those in the control group(all P<0.01), and there were no statistically significant difference in genotype percentage of rs2259820 and rs2464196 sites between these two groups. The percentages of TT and GT genotypes and T allele frequency from rs1169288 site of HNF1 A gene of patients with stageⅠ, stageⅡ, stageⅢ and stageⅣ ASOLL increased gradually in the case group(all P<0.05). TT genotype from rs1169288 site of HNF1 A gene was an independent risk factor for ASOLL showed by Logistic regression analysis(OR=14.692, 95% CI:4.196-47.104, P<0.001).Conclusion The TT genotype from rs1169288 site of HNF1 A gene is the independent risk factor for ASOLL, suggesting that rs1169288 site of HNF1 A gene plays an important role in the pathogenesis of ASOLL.更多还原