The genetic constituent of varicose vein pathogenesis as a key for future treatment option development

Сметанина, М. А.; Шевела, А. И.; Gavrilov, Konstantin A.; Филипенко, М. Л.

doi:10.20517/2574-1209.2021.17

Cited by 6 publications

(5 citation statements)

References 28 publications

(37 reference statements)

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“…Several studies have been conducted to nd out the genetic association of different genes with VV [18, 19,[28][29][30][31]. In our present study, we found that EFEMP1 gene and its variants play an important role in the pathophysiology of varicose veins.…”

Section: Discussionsupporting

confidence: 61%

Replication Study Identified EFEMP1 Association with Varicose Vein Predisposition among Indians

Mehra,

Patra,

Dhillan

et al. 2023

Preprint

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Background: Varicose veins are chronic condition that affects the lower extremities of the body. Several factors such as age, gender, weight, height, prolonged sitting or standing time are associated with this trait. Recently, genome wide studies have identifying genetic biomarkers that are associated with varicose veins in different ethnic groups. Such genetic studies are lacking in South Asians specifically in Indians where prevalence of varicose veins is high and it is important to replicate these variants in stated population. The aim of study is to replicate the association of genetic variants associated with varicose veins which were found to be associated in the other ethnic groups. Methodology: The studied cohort is of Indian population comprising of unrelated 104 varicose veins cases and 448 non-VV controls. The samples were genotyped using the Illumina Global Screening Array. Using the genomic data from UK BioBank and 23andMe studied cohorts; eight genetic variants were selected to replicate in our dataset. Allelic association was performed to identify the effective allele and risk was estimated using odds ratio and p value as level of significance. Multifactor Dimensionality Reduction was used to estimate the cumulative effect of variants in Indians. Result: Variant rs3791679 of EFEMP1 was found to be associated with varicose veins in Indians. After observing the association of EFEMP1 with varicose veins, we further ensued to identify all genetic variants within EFEMP1 to uncover the additional variants associated with this trait. Interestingly, we identified six new variants of EFEM1 gene that have shown association. Moreover, the cumulative effect of all associated variations was estimated and the risk was 2.7 times higher in cases than controls whereas independently their effect is ranging from 0.37–1.58. Conclusion: In this study, EFEMP1 was identified as a potential gene related with the risk of varicose veins in Indians. Present study also highlights that evaluating the maximum number of variants of a gene rather than focusing solely on replicating single variations offers a more comprehensive and nuanced understanding of the genetic factors contributing to a complex trait like varicose veins.

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Section: Discussionsupporting

confidence: 61%

Replication Study Identified EFEMP1 Association with Varicose Vein Predisposition among Indians

Mehra,

Patra,

Dhillan

et al. 2023

Preprint

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“…Moreover, the significance of a specific genetic variation depends on interactions between one's genotype and environmental factors, with the additional influence of unique epigenetic mechanisms. 58 A multi-ancestry GWAS meta-analysis of 49,765 individuals with varicose veins and over 1 million controls identified 139 risk loci and a genetic overlap between arterial and venous disease. Moreover, it highlighted the pleiotropic effects of obesity and related anthropometric traits on vascular diseases and discovered pathways relevant to varicose vein pathogenesis.…”

Section: Part Ii: Risk Factorsmentioning

confidence: 99%

Chronic Venous Disease: Pathophysiological Aspects, Risk Factors, and Diagnosis

Kienzl,

Deinsberger,

Weber

2024

Hamostaseologie

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Chronic venous disease (CVD) is highly prevalent in the general population and encompasses a range of pathological and hemodynamic changes in the veins of the lower extremities. These alterations give rise to a variety of symptoms, with more severe forms resulting in venous ulceration, which causes morbidity and high socioeconomic burden. The origins and underlying mechanisms of CVD are intricate and multifaceted, involving environmental factors, genetics, hormonal factors, and immunological factors that bring about structural and functional alterations in the venous system. This review offers the latest insights into the epidemiology, pathophysiology, and risk factors of CVD, aiming to provide a comprehensive overview of the current state of knowledge. Furthermore, the diagnostic approach for CVD is highlighted and current diagnostic tools are described.

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“…[13]. The pathogenesis of CVD is a very complex multifactorial process, and even a single gene effect can cause little effective influence, and the impact of a particular polymorphism will depend also on genotype-environment interactions, considering also epigenetic mechanisms, which may even be specific to single patients' pathophysiology [14].…”

Section: The Genetic Influencementioning

confidence: 99%

Molecular Determinants of Chronic Venous Disease: A Comprehensive Review

Costa

Andreucci

Ielapi

et al. 2023

IJMS

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Chronic Venous Disease (CVD) refers to several pathological and hemodynamic alterations of the veins of lower limbs causing a wide range of symptoms and signs with a high prevalence in the general population and with disabling consequences in the most severe forms. The etiology and pathophysiology of CVD is complex and multifactorial, involving genetic, proteomic, and cellular mechanisms that result in changes to the venous structure and functions. Expressions of several genes associated with angiogenesis, vascular development, and the regulation of veins are responsible for the susceptibility to CVD. Current evidence shows that several extracellular matrix alterations (ECM) could be identified and in some cases pharmacologically targeted. This review shows the most up to date information on molecular determinants of CVD in order to provide a complete overview of the current knowledge on this topic. In particular, the article explores the genetic influence, the hormonal influence, ECM imbalance, and histopathology of CVD and the role of endothelial dysfunction in CVD.

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The genetic constituent of varicose vein pathogenesis as a key for future treatment option development

Cited by 6 publications

References 28 publications

Replication Study Identified EFEMP1 Association with Varicose Vein Predisposition among Indians

Replication Study Identified EFEMP1 Association with Varicose Vein Predisposition among Indians

Chronic Venous Disease: Pathophysiological Aspects, Risk Factors, and Diagnosis

Molecular Determinants of Chronic Venous Disease: A Comprehensive Review

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