探索叶酸代谢基因遗传多态性之间的联系(MTHFR,地铁,和MTRR)和心血管疾病(CVD),这项研究评估了B族维生素补充剂(叶酸甲酯,吡哆醛-5'-磷酸,和甲基钴胺)对高半胱氨酸和脂质水平,潜在的指导个性化CVD风险管理。在一个随机的,双盲,安慰剂对照试验,54名年龄在40-75岁的高半胱氨酸和中度LDL-C水平升高的患者根据MTHFR进行分组,地铁,和MTRR遗传多态性。超过六个月,他们接受了甲基叶酸的组合,P5P,和甲基钴胺,或者安慰剂.在6个月的随访中,治疗组的同型半胱氨酸水平显着降低了30.0%(95%CI:-39.7%至-20.3%),LDL-C显着降低了7.5%(95%CI:-10.3%至-4.7%),与安慰剂相比(全部p<0.01)。在亚组分析中,纯合子小等位基因携带者的同型半胱氨酸水平显着降低(48.3%,95%CI:-62.3%至-34.3%,p<0.01)与混合等位基因携带者(18.6%,95%CI:-25.6%至-11.6%,p<0.01),组间差异显著(29.7%,95%CI:-50.7%至-8.7%,p<0.01)。纯合携带者的LDL-C水平下降了11.8%(95%CI:-15.8%至-7.8%,p<0.01)和混合等位基因携带者的4.8%(95%CI:-6.8%至-2.8%,p<0.01),具有显著的组间差异(7.0%,95%CI:-13.0%至-1.0%,p<0.01)。叶酸甲酯,P5P,和甲基钴胺补充剂针对基因谱定制有效降低了特定MTHFR患者的同型半胱氨酸和LDL-C水平,地铁,和MTRR多态性,特别是具有纯合次要等位基因多态性。
Exploring the link between genetic polymorphisms in folate metabolism genes (MTHFR, MTR, and MTRR) and cardiovascular disease (CVD), this study evaluates the effect of B vitamin supplements (methylfolate, pyridoxal-5\'-phosphate, and methylcobalamin) on homocysteine and lipid levels, potentially guiding personalized CVD risk management. In a randomized, double-blind, placebo-controlled trial, 54 patients aged 40-75 with elevated homocysteine and moderate LDL-C levels were divided based on MTHFR, MTR, and MTRR genetic polymorphisms. Over six months, they received either a combination of methylfolate, P5P, and methylcobalamin, or a placebo. At the 6 months follow-up, the treatment group demonstrated a significant reduction in homocysteine levels by 30.0% (95% CI: -39.7% to -20.3%) and LDL-C by 7.5% (95% CI: -10.3% to -4.7%), compared to the placebo (p < 0.01 for all). In the subgroup analysis, Homozygous Minor Allele Carriers showed a more significant reduction in homocysteine levels (48.3%, 95% CI: -62.3% to -34.3%, p < 0.01) compared to mixed allele carriers (18.6%, 95% CI: -25.6% to -11.6%, p < 0.01), with a notable intergroup difference (29.7%, 95% CI: -50.7% to -8.7%, p < 0.01). LDL-C levels decreased by 11.8% in homozygous carriers (95% CI: -15.8% to -7.8%, p < 0.01) and 4.8% in mixed allele carriers (95% CI: -6.8% to -2.8%, p < 0.01), with a significant between-group difference (7.0%, 95% CI: -13.0% to -1.0%, p < 0.01). Methylfolate, P5P, and methylcobalamin supplementation tailored to genetic profiles effectively reduced homocysteine and LDL-C levels in patients with specific MTHFR, MTR, and MTRR polymorphisms, particularly with homozygous minor allele polymorphisms.