Guilherme da Silva Silvestre, Iriana Moratto Carrara, Tamires Flauzino, Marcell Alysson Batisti Lozovoy, Rubens Cecchini, Edna Maria Vissoci Reiche, Andréa Name Colado Simão
{"title":"MTHFR 677C>T (rsRS1801133) 变异与外周动脉疾病患者的高同型半胱氨酸血症有关,但与临床严重程度无关。","authors":"Guilherme da Silva Silvestre, Iriana Moratto Carrara, Tamires Flauzino, Marcell Alysson Batisti Lozovoy, Rubens Cecchini, Edna Maria Vissoci Reiche, Andréa Name Colado Simão","doi":"10.1590/1677-5449.202200612","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>The <i>MTHFR</i> 677C>T variant's involvement with hyperhomocysteinemia and peripheral arterial disease (PAD) is still unclear.</p><p><strong>Objectives: </strong>To evaluate associations between the <i>MTHFR</i> 677C>T (rs1801133) variant and susceptibility to and severity of PAD and homocysteine (Hcy) levels.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 <i>MTHFR</i> 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.</p><p><strong>Conclusions: </strong>The T allele of <i>MTHFR</i> 677C>T variant was associated with higher Hcy levels in PAD patients, but not in controls, suggesting a possible interaction between the <i>MTHFR</i> 677C>T variant and other genetic, epigenetic, or environmental factors associated with PAD, affecting modulation of Hcy metabolism.</p>","PeriodicalId":14814,"journal":{"name":"Jornal Vascular Brasileiro","volume":null,"pages":null},"PeriodicalIF":0.8000,"publicationDate":"2023-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10706007/pdf/","citationCount":"0","resultStr":"{\"title\":\"<i>MTHFR</i> 677C>T (rsRS1801133) variant is associated with hyperhomocysteinemia but not with clinical severity in patients with peripheral arterial disease.\",\"authors\":\"Guilherme da Silva Silvestre, Iriana Moratto Carrara, Tamires Flauzino, Marcell Alysson Batisti Lozovoy, Rubens Cecchini, Edna Maria Vissoci Reiche, Andréa Name Colado Simão\",\"doi\":\"10.1590/1677-5449.202200612\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>The <i>MTHFR</i> 677C>T variant's involvement with hyperhomocysteinemia and peripheral arterial disease (PAD) is still unclear.</p><p><strong>Objectives: </strong>To evaluate associations between the <i>MTHFR</i> 677C>T (rs1801133) variant and susceptibility to and severity of PAD and homocysteine (Hcy) levels.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 <i>MTHFR</i> 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.</p><p><strong>Conclusions: </strong>The T allele of <i>MTHFR</i> 677C>T variant was associated with higher Hcy levels in PAD patients, but not in controls, suggesting a possible interaction between the <i>MTHFR</i> 677C>T variant and other genetic, epigenetic, or environmental factors associated with PAD, affecting modulation of Hcy metabolism.</p>\",\"PeriodicalId\":14814,\"journal\":{\"name\":\"Jornal Vascular Brasileiro\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2023-11-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10706007/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Jornal Vascular Brasileiro\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1590/1677-5449.202200612\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"PERIPHERAL VASCULAR DISEASE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Jornal Vascular Brasileiro","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1590/1677-5449.202200612","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"PERIPHERAL VASCULAR DISEASE","Score":null,"Total":0}
引用次数: 0
摘要
背景:MTHFR 677C>TMTHFR 677C>T 变异与高同型半胱氨酸血症和外周动脉疾病(PAD)的关系尚不清楚:评估 MTHFR 677C>T (rs1801133) 变体与 PAD 易感性和严重程度以及同型半胱氨酸(Hcy)水平之间的关系:该研究共纳入 157 名 PAD 患者和 113 名无关对照组。PAD严重程度和解剖放射学类别分别采用方丹分类法和外周动脉疾病管理协会间共识(TASC)进行评估。使用实时聚合酶链反应对变异体进行基因分型,并使用化学发光微粒子测定法确定 Hcy 水平:PAD患者样本中有60名女性(38.2%)和97名男性(61.8%)。与对照组相比,患者年龄更大,Hcy 更高(中位年龄为 69 岁对 45 岁,pMTHFR 677C>T 变异在方丹或 TASC 分类中没有差异。然而,CT+TT 基因型患者的 Hcy 要高于 CC 基因型患者(14.60 µmol/L vs. 12.94 µmol/L,p=0.008)。此外,TT基因型患者的Hcy高于CC+CT基因型患者(16.40 µmol/L vs. 13.22 µmol/L,p=0.019),不受主要混杂变量的影响:结论:MTHFR 677C>T变异的T等位基因与PAD患者较高的Hcy水平相关,但与对照组无关,这表明MTHFR 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。
MTHFR 677C>T (rsRS1801133) variant is associated with hyperhomocysteinemia but not with clinical severity in patients with peripheral arterial disease.
Background: The MTHFR 677C>T variant's involvement with hyperhomocysteinemia and peripheral arterial disease (PAD) is still unclear.
Objectives: To evaluate associations between the MTHFR 677C>T (rs1801133) variant and susceptibility to and severity of PAD and homocysteine (Hcy) levels.
Methods: 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.
Results: 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 MTHFR 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.
Conclusions: The T allele of MTHFR 677C>T variant was associated with higher Hcy levels in PAD patients, but not in controls, suggesting a possible interaction between the MTHFR 677C>T variant and other genetic, epigenetic, or environmental factors associated with PAD, affecting modulation of Hcy metabolism.
期刊介绍:
The Jornal Vascular Brasileiro is editated and published quaterly to select and disseminate high-quality scientific contents concerning original research, novel surgical and diagnostic techniques, and clinical observations in the field of vascular surgery, angiology, and endovascular surgery. Its abbreviated title is J. Vasc. Bras., which should be used in bibliographies, footnotes and bibliographical references and strips.