Silvestre Guilherme da Silva, Carrara Iriana Moratto, Flauzino Tamires, Lozovoy Marcell Alysson Batisti, Cecchini Rubens, Reiche Edna Maria Vissoci, Simão Andréa Name Colado
Universidade Estadual de Londrina - UEL, Londrina, PR, Brasil.
Centro Universitário Filadélfia - UNIFIL, Londrina, PR, Brasil.
J Vasc Bras. 2023 Nov 20;22:e20220061. doi: 10.1590/1677-5449.202200612. eCollection 2023.
The 677C>T variant's involvement with hyperhomocysteinemia and peripheral arterial disease (PAD) is still unclear.
To evaluate associations between the 677C>T (rs1801133) variant and susceptibility to and severity of PAD and homocysteine (Hcy) levels.
The study enrolled 157 PAD patients and 113 unrelated controls. PAD severity and anatomoradiological categories were assessed using the Fontaine classification and the Inter-Society Consensus for the Management of Peripheral Arterial Disease (TASC), respectively. The variant was genotyped using real-time polymerase chain reaction and Hcy levels were determined using chemiluminescence microparticle assay.
The sample of PAD patients comprised 60 (38.2%) females and 97 (61.8%) males. Patients were older and had higher Hcy than controls (median age of 69 vs. 45 years, p<0.001; and 13.66 µmol/L vs. 9.91 µmol/L, p=0.020, respectively). Hcy levels and the 677C>T variant did not differ according to Fontaine or TASC categories. However, Hcy was higher in patients with the CT+TT genotypes than in those with the CC genotype (14.60 µmol/L vs. 12.94 µmol/L, p=0.008). Moreover, patients with the TT genotype had higher Hcy than those with the CC+CT genotypes (16.40 µmol/L vs. 13.22 µmol/L, p=0.019), independently of the major confounding variables.
The T allele of 677C>T variant was associated with higher Hcy levels in PAD patients, but not in controls, suggesting a possible interaction between the 677C>T variant and other genetic, epigenetic, or environmental factors associated with PAD, affecting modulation of Hcy metabolism.
677C>T变异与高同型半胱氨酸血症及外周动脉疾病（PAD）之间的关系仍不明确。
评估677C>T（rs1801133）变异与PAD易感性、严重程度以及同型半胱氨酸（Hcy）水平之间的关联。
该研究纳入了157例PAD患者和113例无关对照。分别采用Fontaine分类法和外周动脉疾病管理协会间共识（TASC）评估PAD严重程度和解剖放射学类别。采用实时聚合酶链反应对变异进行基因分型，采用化学发光微粒分析法测定Hcy水平。
PAD患者样本包括60名（38.2%）女性和97名（61.8%）男性。患者年龄大于对照，且Hcy水平高于对照（中位年龄分别为69岁和45岁，p<0.001；Hcy水平分别为13.66µmol/L和9.91µmol/L，p=0.020）。根据Fontaine或TASC类别，Hcy水平和677C>T变异无差异。然而，CT+TT基因型患者的Hcy水平高于CC基因型患者（14.60µmol/L对12.94µmol/L，p=0.008）。此外，TT基因型患者的Hcy水平高于CC+CT基因型患者（16.40µmol/L对13.22µmol/L，p=0.019），与主要混杂变量无关。
677C>T变异的T等位基因与PAD患者较高的Hcy水平相关，但与对照无关，提示677C>T变异与其他与PAD相关的遗传、表观遗传或环境因素之间可能存在相互作用，影响Hcy代谢的调节。
