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MTHFR和MTRR基因多态性与陕西地区汉族人群冠心病发生的相关性研究
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| 篇名： | MTHFR和MTRR基因多态性与陕西地区汉族人群冠心病发生的相关性研究 |
| TITLE： | |
| 摘要： | 目的：探讨5，10-亚甲基四氢叶酸还原酶（MTHFR）和甲硫氨酸合成酶还原酶（MTRR）基因多态性与陕西地区汉族人群冠心病发生的相关性。方法：选取2016年11月—2017年5月于空军军医大学第二附属医院心内科就诊的陕西地区汉族冠心病患者350例，作为病例组；选取同期于该院行体检的陕西地区汉族健康受试者347例，作为对照组。采用聚合酶链反应法检测各受试者MTHFR基因C677T、A1298C位点以及MTRR基因A66G位点的基因型，比较两组受试者各基因型及等位基因分布的差异，考察其基因多态性与冠心病发生的相关性。结果：共检出MTHFR基因C677T位点CC、CT、TT型，MTHFR基因A1298C位点AA、AC、CC型，MTRR基因A66G位点AA、AG、GG型等基因型。其中，对照组受试者C677T位点CC、CT、TT型分布频率分别为26.80％、44.96％、28.24％，A1298C位点AA、AC、CC型分布频率分别为71.18％、24.78％、4.04％，A66G位点AA、AG、GG型分布频率分别为54.47％、38.62％、6.91％；病例组受试者C677T位点CC、CT、TT型分布频率分别为15.43％、49.71％、34.86％，A1298C位点AA、AC、CC型分布频率分别为77.14％、21.71％、1.15％，A66G位点AA、AG、GG型分布频率分别为54.57％、38.29％、7.14％。两组受试者各基因型分布频率均符合Hardy-Weinberg平衡（P＞0.05）。两组受试者C677T、A1298C位点各基因型分布频率及等位基因频率比较，差异均有统计学意义（P＜0.05），其中对照组受试者C677T位点CC型分布频率及C等位基因频率、A1298C位点CC型分布频率及C等位基因频率均显著高于病例组，差异均有统计学意义（P＜0.05）。两组受试者A66G位点各基因型分布频率及等位基因频率比较，差异均无统计学意义（P＞0.05）。结论：陕西地区汉族人群MTHFR基因C677T位点以突变型居多，A1298C位点以野生型居多；上述两个位点的多态性可能与该类人群冠心病的发生有关，其中C677T位点突变可能是冠心病发生的危险因素之一，A1298C位点突变则可能是有益因素。而MTRR基因A66G位点多态性可能与该类人群冠心病的发生无关。 |
| ABSTRACT： | OBJECTIVE： To investigate the correlation of gene polymorphism of MTHFR and MTRR with the occurrence of coronary heart disease in Han population in Shaanxi area. METHODS： Totally 350 Shaanxi Han patients with coronary heart disease were selected from cardiovascular department of the Second Affiliated Hospital of Air Force Medical University during Nov. 2016-May 2017 as case group. Totally 347 Shaanxi Han healthy volunteers were selected from the hospital in the same period as control group. The genotypes of MTHFR gene C677T， A1298C site and MTRR gene A66G site were detected by PCR assay. The genotype and allelic distribution were compared between 2 groups. The relationship between gene polymorphism and the occurrence of coronary heart disease was investigated. RESULTS： CC， CT and TT genotype in MTHFR gene C677T site， AA， AC and CC genotype in MTHFR gene A1298C site as well as AA， AG， GG genotype in MTRR gene A66G site were detected. In control group， the frequencies of CC， CT and TT genotype in C677T site were 26.80％， 44.96％， 28.24％； the frequencies of AA， AC and CC genotype in A1298C site were 71.18％， 24.78％， 4.04％； and the frequencies of AA， AG and GG genotype in A66G site were 54.47％， 38.62％， 6.91％， respectively. In case group， the frequencies of CC， CT and TT genotype in C677T site were 15.43％， 49.71％， 34.86％； the frequencies of AA， AC and CC genotype in A1298C site were 77.14％， 21.71％， 1.15％； and the frequencies of AA， AG and GG genotype in A66G site were 54.57％， 38.29％， 7.14％， respectively. The frequencies of genotype distribution in 2 groups were all in line with the Hardy-Weinberg equilibrium （P＞0.05）. There was statistical significance in genotype distribution frenquencies and allele frequencies in C677T and A1298C site between 2 groups （P＜0.05）. The frequencies of CC genotype distribution and C allele in C677T site， the frequencies of CC genotype distribution and C allele in A1298C site in control group were significantly higher than case group， with statistical significance （P＜0.05）. There was no statistical significance in genotype distribution frequencies or allele frequencies in A66G site between 2 groups （P＞0.05）. CONCLUSIONS： MTHFR gene is mainly mutant type in C677T site and wild type in A1298C site among Han population in Shaanxi area. Gene polymorphism of above two sites may be associated with the occurrence of coronary heart disease； C677T site mutation may be a risk factor for coronary heart disease， while A1298C site mutation may be a beneficial factor. MTRR gene polymorphism in A66G site maybe has no relationship with coronary heart disease in the population. |
| 期刊： | 2018年第29卷第22期 |
| 作者： | 白晓丹，赵超，刘琳娜 |
| AUTHORS： | BAI Xiaodan，ZHAO Chao，LIU Linna |
| 关键字： | 陕西地区；汉族；5，10-亚甲基四氢叶酸还原酶基因；甲硫氨酸合成酶还原酶基因；C677T；A1298C；A66G；基因多态性；冠心病；相关性 |
| KEYWORDS： | Shaanxi area； Han population； MTHFR gene； MTRR gene； C677T；A1298C；A66G；Gene polymorphism； Coronary heart disease； Relationship |
| 阅读数： | 987 次 |
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