Zarur Eduarda Bonelli, Peron Filho Faustino, de Oliveira Allan Chiaratti, Keppeke Gerson Dierley, D'Almeida Vânia, Silva de Souza Alexandre Wagner
Rheumatology Division, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Rheumatology Division, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.
Front Immunol. 2025 Apr 4;16:1574479. doi: 10.3389/fimmu.2025.1574479. eCollection 2025.
Takayasu arteritis (TAK) is associated with high plasma homocysteine (Hcy) and elevated Hcy predicts ischemic events. Thus, this study aims to compare the frequency of single-nucleotide polymorphisms (SNPs) of genes involved in Hcy metabolism between TAK and controls and analyze associations with Hcy levels, TAK features, and acute ischemic arterial events (AIAEs). A cross-sectional study was performed with 73 TAK patients and 71 controls. SNPs of genes involved in the Hcy metabolism, plasma Hcy, and risk factors were analyzed for hyperhomocysteinemia (HHcy), cardiovascular disease (CVD), and AIAEs. Patients presented a higher frequency of risk factors for CVD and HHcy. At least one AIAE was observed in 27 (37.0%) patients and one control. The frequency of the SNPs was similar between both groups, and there was no association between SNP carriage and AIAEs. TAK patients presented higher Hcy levels than controls (13.9 ± 5.6 µmol/L vs. 8.6 ± 4.0 µmol/L; < 0.001), and patients carrying MTHFR677TT presented higher Hcy levels than those carrying MTHFR677CT (20.4 ± 7.8 µmol/L vs. 13.7 ± 5.2 µmol/L; = 0.02) or MTHFR677CC (20.4 ± 7.8 µmol/L vs. 13.1 ± 4.7 µmol/L; = 0.009). TAK was an independent risk factor for HHcy [odds ratio (OR) = 10.20; 95% confidence interval (95% CI): 4.16-25.00; < 0.001], and in TAK, thiazide diuretic use was a risk factor for HHcy (OR = 11.61; 95% CI: 1.63-82.63; < 0.01). In conclusion, TAK was a risk factor for HHcy but not related to SNPs in genes encoding Hcy metabolism enzymes. The burden of chronic inflammation and thiazide diuretics contribute to HHcy in TAK.
高安动脉炎（TAK）与血浆高同型半胱氨酸（Hcy）水平升高有关，且Hcy升高预示着缺血性事件。因此，本研究旨在比较TAK患者与对照组中参与Hcy代谢的基因单核苷酸多态性（SNP）的频率，并分析其与Hcy水平、TAK特征及急性缺血性动脉事件（AIAE）之间的关联。对73例TAK患者和71例对照进行了一项横断面研究。分析了参与Hcy代谢的基因的SNP、血浆Hcy及危险因素，以评估高同型半胱氨酸血症（HHcy）、心血管疾病（CVD）和AIAE情况。患者出现CVD和HHcy危险因素的频率更高。27例（37.0%）患者和1例对照至少发生过1次AIAE。两组间SNP的频率相似，且SNP携带情况与AIAE之间无关联。TAK患者的Hcy水平高于对照组（13.9±5.6µmol/L对8.6±4.0µmol/L；<0.001），携带MTHFR677TT的患者的Hcy水平高于携带MTHFR677CT的患者（2
