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目的检测原发性开角型青光眼(POAG)伴高度近视患者中和代谢综合征相关基因的单核苷酸多态性(SNP),分析代谢综合征和高度近视作为危险因素在POAG发生发展中所起的作用。方法应用ABI Prism7500HT型荧光定量PCR仪结合TaqMan SNP Genotyping试剂盒荧光探针技术检测单纯POAG组24例、POAG伴高度近视组13例、正常对照组100例白细胞介素-6(IL-6)、IL-6受体(IL-6R)、多巴胺受体-D2(DR-D2)、β-纤维蛋白原(β-FGB)、过氧化物酶体增生物激活受体-γ2(PPARG-γ2)、转化生长因子-β1(TGF-β1)、E-选择素(E-Sel)、脂蛋白A-5(APOA-5)、C反应蛋白(CRP)、外核苷酸焦磷酸酶/磷酸二酯酶-1(ENPP-1)、肝脂肪酶(LIPC)、脂联素(ADIPOQ)、对氧磷酯酶-1(PON-1)和丝氨酸蛋白酶抑制剂E-1(SERPINE-1)基因的基因型和等位基因频率。结果研究纳入的POAG患者的E-Sel、APOA-5、LIPC、ADIPOQ、PON-1、SERPINE-1等位基因频率与亚洲人资料相似。总POAG组IL-6R、IL-6、β-FGB、CRP、ENPP-1、LIPC、ADIPOQ、PON-1和SERPINE-1的基因型和等位基因频率与正常对照组比较,差异均有统计学意义(P<0.05)。其中,IL-6、β-FGB、CRP、ENPP-1、LIPC和ADIPOQ的OR值>2.5。单纯POAG患者与POAG伴高度近视患者之间IL-6R、IL-6的基因表型和等位基因频率差异有统计学意义(χ2=5.48,P<0.05);POAG患者与正常对照者相比,IL-6、CRP的基因型和等位基因频率、β-FGB基因频率及ADIPOQ基因型均不相同(χ2=3.79,P=0.04)。结论代谢综合征和高度近视作为POAG的危险因素与其相关基因的基因型和等位基因频率有关,其影响包括E-Sel和SERPINE-1可作用于小梁网的细胞外基质;ENPP-1抑制胰岛素样因子活性而影响小梁网细胞生长;IL-6的内源性视神经保护作用;IL-6、IL-6R、E-Sel参与的自身免疫反应;β-FGB和LIPC在高黏滞血症中的作用;ADIPOQ促进NOS/NO生成;PON1的血管内皮保护作用。
Objective To detect single nucleotide polymorphisms (SNPs) of genes associated with metabolic syndrome in patients with primary open-angle glaucoma (POAG) with high myopia and to analyze the association between metabolic syndrome and high myopia as a risk factor in the development and progression of POAG The role played. Methods 24 cases of POAG group, 13 cases of POAG with high myopia group and 100 cases of normal control group were detected by ABI Prism7500HT fluorescence quantitative PCR instrument combined with fluorescent probe technique of TaqMan SNP Genotyping kit. 100 cases of IL-6, (IL-6R), dopamine receptor-D2 (DR-D2), β-fibrinogen (β-FGB), peroxisome proliferator- activated receptor-γ2 (PPARG- γ2) , Transforming growth factor-β1 (TGF-β1), E-selectin, APOA-5, CRP, (ENPP-1), hepatic lipase (LIPC), adiponectin (ADIPOQ), paraoxonase-1 (PON-1) and serine protease inhibitor E-1 Genotype and allele frequency. Results The frequency of alleles of E-Sel, APOA-5, LIPC, ADIPOQ, PON-1 and SERPINE-1 in POAG patients was similar to that of Asian population. The genotype and allele frequencies of IL-6R, IL-6, β-FGB, CRP, ENPP-1, LIPC, ADIPOQ, PON-1 and SERPINE-1 in the total POAG group were statistically different from those in the normal control group Significance (P <0.05). Among them, the OR of IL-6, β-FGB, CRP, ENPP-1, LIPC and ADIPOQ was> 2.5. There were significant differences in the phenotype and allele frequencies of IL-6R and IL-6 between patients with POAG and POAG with high myopia (χ2 = 5.48, P <0.05). POAG patients compared with normal controls , Genotype and allele frequency of IL-6, CRP, β-FGB gene frequency and ADIPOQ genotype were not the same (χ2 = 3.79, P = 0.04). Conclusions The risk factors of metabolic syndrome and high myopia as POAG are related to the genotype and allele frequency of related genes. The effects of E-Sel and SERPINE-1 on the extracellular matrix of trabecular meshwork; ENPP-1 inhibition IL-6, IL-6R, E-Sel involved in the autoimmune response; β-FGB and LIPC in the high viscosity of blood ADIPOQ promote NOS / NO production; PON1 vascular endothelial protective effect.