School of Basic Medicine, Dali University, Dali, Yunnan, China.
Laboratory Department, The First Affiliated Hospital of Dali University, Dali, Yunnan, China.
Clin Exp Hypertens. 2023 Dec 31;45(1):2206066. doi: 10.1080/10641963.2023.2206066.
Hypertension is one of the leading causes of human death and disability. MTHFR and MTRR regulate folate metabolism and are closely linked to hypertension, although the relationship is inconsistent among different ethnic groups. The present study aims to investigate the effects of MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131), and MTRR A66G (rs1801394) polymorphisms on hypertension susceptibility in the Bai nationality of the Yunnan Province, China.
This case-control study included 373 hypertensive patients and 240 healthy controls from the Chinese Bai population. The genotyping of MTHFR and MTRR gene polymorphisms was carried out by using the KASP method. The effects of genetic variations of MTHFR and MTRR genes on hypertension risk were evaluated with odds ratios (OR) and 95% confidence intervals (95% CI).
The present study revealed that the CT and TT genotypes and T allele of MTHFR C677T locus were considerably associated with an increased risk of hypertension. In addition, MTHFR A1298C locus CC genotype could significantly increase the hypertension risk. The T-A and C-C haplotypes of MTHFR C677T and MTHFR A1298C could increase the risk of hypertension. Further stratified analysis by risk rank of folate metabolism indicated that people with poor utilization of folic acid were more prone to develop hypertension. In the hypertension group, the MTHFR C677T polymorphism was significantly associated with fasting blood glucose, fructosamine, apolipoprotein A1, homocysteine, superoxide dismutase, and malondialdehyde levels.
Our study suggested that genetic variations of MTHFR C677T and MTHFR A1298C were significantly associated with susceptibility to hypertension in the Bai population from Yunnan, China.
高血压是导致人类死亡和残疾的主要原因之一。MTHFR 和 MTRR 调节叶酸代谢，与高血压密切相关，但在不同种族群体中的关系并不一致。本研究旨在探讨 MTHFR C677T（rs1801133）、MTHFR A1298C（rs1801131）和 MTRR A66G（rs1801394）多态性对中国云南白族人群高血压易感性的影响。
本病例对照研究纳入了 373 例高血压患者和 240 例来自中国白族的健康对照者。采用 KASP 法检测 MTHFR 和 MTRR 基因多态性。采用比值比（OR）和 95%置信区间（95%CI）评估 MTHFR 和 MTRR 基因遗传变异对高血压风险的影响。
本研究表明，MTHFR C677T 位点的 CT 和 TT 基因型和 T 等位基因与高血压风险增加显著相关。此外，MTHFR A1298C 位点 CC 基因型可显著增加高血压风险。MTHFR C677T 和 MTHFR A1298C 的 T-A 和 C-C 单倍型可增加高血压风险。进一步按叶酸代谢风险等级分层分析表明，叶酸利用率差的人群更容易发生高血压。在高血压组中，MTHFR C677T 多态性与空腹血糖、果糖胺、载脂蛋白 A1、同型半胱氨酸、超氧化物歧化酶和丙二醛水平显著相关。
本研究表明，MTHFR C677T 和 MTHFR A1298C 的遗传变异与中国云南白族人群高血压易感性显著相关。
