MTHFRC677T和A1298C多态与第一期心肌缺血的关联:一个病例对照研究
Iulia Andreea Badea1,2, Lavinia Carmen Daba1,2, Nicoleta Leopa2
1Faculty of Medicine, Ovidius University, 900470 Constanta, Romania.
Genes
|August 28, 2025
概括
甲基四酸减少酶 (MTHFR) 基因的遗传变异与心肌缺血风险密切相关,特别是在老年人中. 这突显了心血管风险评估中基因查的潜力.
科学领域:
- 心血管遗传学
- 分子心脏病学
- 人口遗传学
背景情况:
- 心肌缺血是全球主要的死亡原因.
- 遗传因素,特别是甲基四酸减少酶 (MTHFR) 基因多态,越来越多地被认为是导致心血管疾病的因素.
- 了解MTHFR C677T和A1298C变体在初发性心肌缺血中的作用对于风险分层至关重要.
研究的目的:
- 调查MTHFR C677T和A1298C多态性与第一次心肌缺血的风险之间的联系.
- 评估这些MTHFR基因变异在罗马尼亚人群中的影响.
- 探索与遗传倾向有关的潜在相互作用.
主要方法:
- 一项病例对照研究,涉及69名初发心肌缺血患者和55名年龄和性别匹配的健康对照患者.
- 使用实时PCR测定进行了MTHFR C677T和A1298C多态的基因定型.
- 收集包括血压,BMI,吸烟和酒精消耗在内的临床数据.
主要成果:
- 在心肌缺血患者中观察到同位素突变基因型 (C677T的TT和A1298C的CC) 的频率明显较高.
- 在71%的患者中发现了TT基因型 (MTHFR C677T),而对照组为7. 3%,在59. 4%的患者中发现了CC基因型 (A1298C),而对照组为7. 3%.
- 这种关联在50岁以上的个体中更为明显,这表明遗传因素与年龄之间的相互作用.
结论:
- 同胞性突变基因型的MTHFR C677T和A1298C与第一发心肌缺血的风险增加密切相关.
- 这种遗传倾向在老年人中尤为显著.
- 对MTHFR多态性的基因查可能有助于早期心血管风险分层.
更多相关视频
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
3.7K
09:38Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
Published on: November 14, 2017
15.1K
相关概念视频
01:17Ischemic Heart Disease: Overview
1.4K
Ischemic heart disease occurs when the heart's blood supply dwindles, causing an ominous lack of oxygen and nutrients. This deficiency, stemming from reduced or obstructed blood flow, spells danger, leading to heart muscle damage and dysfunction.
Atherosclerosis, the primary malefactor, orchestrates this dangerous condition. It manifests as the accumulation of fatty deposits, akin to insidious plaques, within arterial walls. As time elapses, these plaques metamorphose, hardening and...
Atherosclerosis, the primary malefactor, orchestrates this dangerous condition. It manifests as the accumulation of fatty deposits, akin to insidious plaques, within arterial walls. As time elapses, these plaques metamorphose, hardening and...
1.4K
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
45
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
45
01:21Myocarditis I: Introduction
28
Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
28
01:25Cardiomyopathy I: Introduction and Classification
50
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
50