慢性静脉疾病中的全基因组关联研究:系统性审查
Chien Lin Soh1, Matthew Tan1, Alun H Davies1
1Section of Vascular Surgery, Department of Surgery and Cancer, Imperial College London, London, UK.
Journal of vascular surgery. Venous and lymphatic disorders
|December 14, 2025
概括
遗传因素影响慢性静脉疾病 (CVD). 全基因组关联研究 (GWAS) 确定了与心血管疾病相关的几种基因变异,但这些发现需要更大,多样化的人口研究才能得出可概括的结论.
科学领域:
- 遗传学 是一个遗传学.
- 血管生物学 血管生物学
- 流行病学 流行病学
背景情况:
- 慢性静脉疾病 (CVD) 由静脉高血压引起,损害静脉回归并降低生活质量.
- 遗传倾向是CVD发展和易感性的重要因素.
- 本综述综合了基因组广泛关联研究 (GWAS) 关于与心血管疾病相关的遗传变异的发现.
研究的目的:
- 系统地审查全基因组关联研究 (GWAS),调查与慢性静脉疾病 (CVD) 相关的遗传变异.
- 识别导致静脉静脉病变和遗传性的遗传因素.
主要方法:
- 按照PRISMA指南进行的系统审查.
- 在PubMed,EMBASE和Ovid数据库中搜索了基因变异和心血管疾病的GWAS.
- 包括13项研究,涵盖超过60万例和360万对照,使用像门德尔随机化这样的统计方法.
主要成果:
- 确定了与炎症,免疫力,高血压和静脉静脉结构相关的显著遗传多态.
- 特定的基因如PPP3R1,EBF1,GATA2,CASZ1,PIEZO1和STIM2都与此有关.
- 在芬兰人群中发现了保护性变异,但多态变异在不同人群中缺乏普遍性.
结论:
- 遗传变异有助于心血管疾病的发展,影响关键的生物通路.
- 了解遗传贡献可以促进诊断,预后和个性化心血管疾病治疗.
- 需要更大的,全球代表性的研究和元分析来验证研究结果并得出可概括的结论.
相关概念视频
Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies
270
The key difference between Superficial Vein Thrombosis (SVT) and Deep Vein Thrombosis (DVT) lies in their location and severity.Clinical ManifestationsSVT typically presents with localized pain, tenderness, and redness along the course of a superficial vein, often accompanied by a palpable, cord-like structure under the skin. This condition is usually less dangerous than DVT but can be uncomfortable and may lead to complications such as cellulitis or, rarely, a clot extension into the deep...
270
Genome-wide Association Studies-GWAS
15.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
15.2K
Varicose Veins II: Diagnostic Studies and Interprofessional Care
164
Varicose veins, or varicosities, develop when the valves in the veins, which control blood flow, weaken or damage. It causes blood to pool and the veins to enlarge. Understanding the clinical manifestations, diagnostic approaches, and management options for varicose veins is crucial for effective treatment and relief.Clinical manifestationsClinical manifestations of varicose veins include a heavy, achy feeling or pain after prolonged standing or sitting. This discomfort can often be relieved by...
164
Venous Thrombosis III: Interprofessional Care
262
Venous thrombosis requires effective prevention and treatment strategies to improve patient outcomes and reduce potential complications.Prevention StrategiesHealthcare providers must prioritize preventing venous thromboembolism (VTE) for all adult patients upon admission. Interventions depend on bleeding and thrombosis risk, medical history, current medications, diagnoses, planned procedures, and patient preferences. Patients on bed rest should change positions every two hours and, if not...
262
Venous Thrombosis I: Introduction
294
Venous thrombosis, the most common disorder of the veins, involves the formation of a thrombus or blood clot associated with vein inflammation. It can be classified as either superficial vein thrombosis or deep vein thrombosis.Superficial Vein Thrombosis: This involves the formation of a thrombus in a superficial vein, usually the greater or lesser saphenous vein. Though less severe than deep vein thrombosis (DVT), SVT can lead to complications if untreated.Deep Vein Thrombosis (DVT): This...
294
Venous Thrombosis IV: Nursing Management
182
Nursing management begins with a thorough assessment of the patient's health history. Key factors include trauma to veins, peripherally inserted central catheters, varicose veins, recent pregnancy or childbirth, surgery, bacteremia, prolonged bed rest, atrial fibrillation, COPD, heart failure, cancer, coagulation disorders, myocardial infarction, spinal cord injury, stroke, prolonged travel, recent bone fractures, and dehydration. Review medication intake, particularly oral contraceptives,...
182


