叶酸代谢通路相关基因多态性对血清同型半胱氨酸浓度的影响

目的：研究亚甲基四氢叶酸还原酶（MTHFR）和甲硫氨酸合成酶还原酶（MTRR）基因多态性对血清同型半胱氨酸（Hcy）浓度的影响。方法：搜集皖南医学院弋矶山医院2020年11月至2021年4月诊断为缺血性脑血管病患者148例为研究对象，采用荧光染色原位杂交技术对患者MTHFR 677C/T和MTRR 66A/G基因多态进行分型。21例患者采用循环酶法检测血清Hcy浓度。分析MTHFR 677C/T和MTRR 66A/G基因多态性分布，并比较不同基因型患者血清Hcy浓度的差异。结果：MTHFR 677C/T和MTRR 66A/G基因突变频率分别为42.57%和26.01%，且男女之间基因分布频率未见明显差异（P>0.05）。21例患者Hcy血清平均浓度为（16.04±4.34） μmol/L，其中＜15 μmol/L患者8例（38.10%），≥15 μmol/L患者13例（61.90%）。MTHFR不同基因型患者Hcy血清浓度分别为TT（18.91±5.34）μmol/L、CT（14.38±1.84）μmol/L和CC（13.58±2.86）μmol/L，且差异具有统计学意义（P<0.001）。MTRR不同基因型患者血清Hcy浓度差异未见统计学意义（P>0.05）。结论：MTHFR基因多态性可能影响血清Hcy的浓度，可考虑结合患者MTHFR基因分型进行个体化叶酸增补，该结论后续会扩大临床样本量进一步验证。

Distribution of gene polymorphism in folate metabolism pathway and its effect on serumhomocysteine concentration

AIM: To study the polymorphism distribution of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes and their influence on serum homocysteine (Hcy) concentration. METHODS: A total of 148 patients diagnosed with ischemic stroke from November 2020 to February 2021 in Yijishan Hospital of Wanan Medical College were selected for the study, and patients were typed for MTHFR 677C/T and MTRR 66A/G genes using fluorescent staining in situ hybridization technique. Serum Hcy concentrations were measured in 21 patients using a circulating enzyme assay. The distribution of MTHFR 677C/T and MTRR 66A/G gene polymorphisms were analyzed, and the differences in serum Hcy concentrations between patients with different genotypes were compared. RESULTS: The mutation rates of MTHFR 677C/T and MTRR 66A/G genes were 42.57% and 26.01%, respectively, and no significant differences in gene distribution frequencies were observed between men and women (P>0.05). The mean Hcy serum concentration was (16.04±4.34) μmol/L in 21 patients, including 8 patients (38.10%) with <15 μmol/L and 13 patients (61.90%) with ≥15 μmol/L. The Hcy serum concentrations in patients with different genotypes of MTHFR were TT (18.91±5.34) μmol/L, CT (14.38±1.84) μmol/L and CC (13.58±2.86) μmol/L, respectively, and were statistically different (P<0.001). Serum Hcy concentrations in patients with different genotypes of MTRR were not statistically different (P>0.05). CONCLUSION: MTHFR gene polymorphisms can affect serum Hcy concentrations. The MTHFR genotyping can be considered for individualized folic acid supplement. This conclusion should be further verified by expanding the clinical sample size.