Medical Laboratory, Shidong Hospital Affiliated to University of Shanghai for Science and Technology, No. 999, Shiguang Road, 200438 Yangpu District, Shanghai, China.
Cardiovasc Ther. 2022 Feb 22;2022:2144443. doi: 10.1155/2022/2144443. eCollection 2022.
Essential hypertension (EH) is a common and multifactorial disorder that is likely to be influenced by multiple genes. The methylenetetrahydrofolate reductase () gene rs1801133 and rs1801131 polymorphisms influence MTHFR enzyme activity and plasma homocysteine concentration. In addition, variations in MTHFR functions likely play roles in the etiology of EH. Thus far, a large number of studies investigating the associations between the polymorphisms and EH have provided controversial or inconclusive results. To better assess the purported relationship, we performed a comprehensive analysis of 52 published studies. . Eligible studies were identified by searching the PubMed, Wanfang, and China National Knowledge Infrastructure (CNKI) databases. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the potential association between the rs1801133 polymorphism and EH.
Overall, 10712 patients and 11916 controls were involved; we observed significantly increased association between the rs1801133 polymorphism and EH risk (such as T vs. C: OR = 1.38, 95% CI = 1.25 - 1.54, ≤ 0.001), with similar results evident within race subgroups (such as Asian: T vs. C: OR = 1.47, 95% CI = 1.30 - 1.67, ≤ 0.001; compared to Chinese: T vs. C: OR = 1.54, 95% CI = 1.33 - 1.79, ≤ 0.001). Similar associations were also found in subgroups defined by the source of controls and genotype methods. To our regret, based on the limited studies, no association was detected for rs1801131 polymorphism.
Our study provides evidence that the rs1801133 null genotype may increase EH risk. Future studies with larger sample sizes are warranted to evaluate this association in more detail.
原发性高血压（EH）是一种常见的多因素疾病，可能受到多个基因的影响。亚甲基四氢叶酸还原酶（MTHFR）基因 rs1801133 和 rs1801131 多态性影响 MTHFR 酶活性和血浆同型半胱氨酸浓度。此外，MTHFR 功能的变化可能在 EH 的发病机制中发挥作用。迄今为止，大量研究调查了 rs1801133 多态性与 EH 之间的关联，但结果存在争议或不一致。为了更好地评估这种假定的关系，我们对 52 项已发表的研究进行了综合分析。方法：通过检索 PubMed、万方和中国国家知识基础设施（CNKI）数据库，确定符合条件的研究。使用比值比（OR）和 95%置信区间（CI）来评估 rs1801133 多态性与 EH 之间的潜在关联。结果：共有 10712 名患者和 11916 名对照者参与研究；我们观察到 rs1801133 多态性与 EH 风险之间存在显著的相关性（如 T 对 C：OR=1.38，95%CI=1.25-1.54， ＜0.001），在种族亚组中也存在类似的结果（如亚洲人：T 对 C：OR=1.47，95%CI=1.30-1.67， ＜0.001；与中国人相比：T 对 C：OR=1.54，95%CI=1.33-1.79， ＜0.001）。在对照组来源和基因型方法定义的亚组中也发现了类似的关联。遗憾的是，基于有限的研究，rs1801131 多态性与 EH 之间没有相关性。结论：本研究提供的证据表明，rs1801133 无义基因型可能会增加 EH 的风险。需要进行更大样本量的研究来更详细地评估这种关联。
