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目的研究系统性红斑狼疮(SLE)患者基因组DNA甲基化水平,分析影响基因组DNA甲基化水平的因素。方法测定26例SLE患者和20名正常对照的同型半胱氨酸(Hcy)、S-腺苷蛋氨酸(SAM)和S-腺苷同型半胱氨酸(SAH)的水平和亚甲基四氢叶酸还原酶(MTHFR)基因677位的多态性。结果譹SLE组与对照组相比,SAM明显降低,SAH明显升高,其差异有统计学意义;提示SLE患者基因组DNA甲基化水平明显降低;譺SAM与同型半胱氨酸(Hcy)呈负相关,SAH与Hcy呈正相关相关系数,分别为-0.897、0.927,P<0.01;譻MTHFR基因677位C→T的突变不仅导致Hcy水平升高,同时使基因组DNA甲基化水平降低。结论譹SLE患者普遍有基因组DNA甲基化水平降低;譺基因组DNA低甲基化可能与MTHFR基因的突变和高Hcy血症有关。
Objective To study the genomic DNA methylation levels in patients with systemic lupus erythematosus (SLE) and to analyze the factors influencing the methylation level of genomic DNA. Methods The levels of homocysteine (Hcy), S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH) in 26 patients with SLE and 20 normal controls were determined. Polymorphism of the 677th Gene of Folic Acid Reductase (MTHFR). Results Compared with the control group, the SLE group showed a marked decrease in SAM and a significant increase in SAH. The difference was statistically significant. It suggested that the methylation level of genomic DNA in patients with SLE was significantly lower than that in the control group The positive correlation coefficient between SAH and Hcy were -0.897,0.927, P <0.01 respectively. The mutation of 6TH C → T of MTHFR gene not only resulted in the increase of Hcy, but also reduced the methylation level of genomic DNA. CONCLUSIONS: Genomic DNA methylation levels are generally lower in patients with SLE. Hypomethylation of genomic DNA may be related to mutations in the MTHFR gene and hyperhomocysteinemia.