AIM:To analyze the variety of DNA promoter methylation and epigenetic pathogenesis of human primary hypertension. METHODS: Genomic DNA was collected from peripheral blood mononuclear cells in normal control group and primary hypertension group. High - throughput screening of 627 diversely - methylated genes was performed by DNA methylation chip. The genes of FZD7, IMP, TTBK1, USFP1, SYCE1, NDUSF8, ZNF540 and ABCG4 were considered as candidate hypertension - related genes and they were analyzed with bisulfite sequencing PCR. RESULTS: Among 8 candidate genes, ABCG4 gene presented the most different DNA methylation. In primary hypertension group, the promoter of ABCG4 gene presented hypomethylation and the percentage of methylation was 18. 3% , while that in normal control group was 32.4% (P< 0.01). CONCLUSION: ABCG4 gene promoter presents hypomethylation, suggesting that it may be related to the pathogenesis of primary hypertension.%目的:分析原发性高血压患者DNA启动子甲基化的差异,期待从表观遗传学的角度初步揭示人类原发性高血压的发病机制.方法:实验对象分为正常对照组和原发性高血压组,提取外周血单个核细胞全基因组DNA.通过DNA甲基化芯片高通量筛选,共得到差异甲基化基因627个.筛选FZD7、LRP、TTBK1、USFP1、SYCE1、NDUSF8、ZNF540和ABCG4共8个可能与高血压相关基因,并进行后续亚硫酸氢盐测序PCR分析.结果:8个候选基因中,ABCG4差异甲基化程度最为显著.原发性高血压组ABCG4基因启动子区甲基化率为18.3%,正常组为32.4%,两者差异显著(P<0.01).结论:本研究证实原发性高血压患者ABCG4基因启动子低甲基化,可能在原发性高血压的发病机制中起到一定的作用.
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