Polymorphisms in the <i>MTHFR</i> and <i>MTR</i> genes and the risk of varicose veins in ethnical Russians

Shadrina, Alexandra S.; Sevost'ianova, Kseniya; Шевела, А. И.; Soldatsky, Evgenii Yurievich; Селиверстов, Е. И.; Demekhova, M. Yu.; Shonov, Oleg A; Ilyukhin, E. A.; Сметанина, М. А.; Воронина, Е. Н.; Pikalov, I. V.; Золотухин, И. А.; Филипенко, М. Л.

doi:10.3109/1354750x.2016.1171902

Cited by 3 publications

(2 citation statements)

References 42 publications

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“…Thus, the table "Polymorphic variants/mutations of candidate genes and their associations with chronic venous disease" shows not only the gene, the type of mutation/single nucleotide polymorphism (SNP) and the reference to the article, but also the sample size and the degree of this association, which is decisive for the significance of this association. In the studies performed in our laboratory, it has been shown that, for example, for polymorphic variants of genes AGGF1 (rs13155212, rs7704267) [13] , MTHFR (rs1801133) and MTR (rs1805087) [14] , no associations with the risk of VVD in ethnic Russians were found. There were also no associations found for regulatory SNPs of matrix metalloproteinase genes MMP1 (rs1799750), MMP2 (rs243865), MMP3 (rs3025058) and MMP7 (rs11568818) [15] , whereas the rare rs1800562 A allele in the HFE gene leading to the accumulation of iron in the patient's tissues [16] and polymorphic variants rs1035550 C>T and rs34221221 T>C of the transcription factor FOXC2 gene [17] were associated with an increased risk of VVD.…”

Section: Genetic Association Studies On Varicose Vein Pathogenesis-an Overviewmentioning

confidence: 90%

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

Сметанина¹,

Шевела²,

Gavrilov³

et al. 2021

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This perspective focuses primarily on the fundamental part of phlebology, where most attention is paid to the genetic aspects of the pathogenesis of varicose vein disease and where the main breakthrough advances in this area of research are discussed. We propose a direction for further actions to replenish molecular genetic knowledge about the main drivers of pathological processes in varicose vein disease and to complete the creation of an entire picture of pathogenesis, which, in turn, may serve as a key for the development of treatment options in the future in order to translate research evidence into clinical practice.

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Section: Genetic Association Studies On Varicose Vein Pathogenesis-an Overviewmentioning

confidence: 90%

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

Сметанина¹,

Шевела²,

Gavrilov³

et al. 2021

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“…Тем не менее результаты работы A. Sverdlova и соавт. [15] не подтвердились в более позднем исследовании, выполненном на выборке той же этнической принадлжености, но существен-но большего размера.…”

Section: результаты обработки найденных источниковunclassified

The Genetic Base of Chronic Venous Disease: a Review of Modern Concepts

Сметанина¹,

Shadrina²,

Золотухин³

et al. 2016

Flebol.

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Хронические заболевания вен (ХЗВ) нижних ко-нечностей представляют собой одно из наиболее часто встречающихся заболеваний сосудистой системы. Оценки распространенности варикозного расширения вен (ВРВ) варьируют в широких пределах: от 2 до 56% у мужчин и от 1 до 73% у женщин [1]. Различия в распро-страненности могут быть объяснены рядом факторов, в том числе методологией исследований. В целом, рас-пространенность выше в более развитых индустриаль-ных странах, чем в слаборазвитых регионах. 3 «новосибирский национальный исследовательский государственный университет», новосибирск, россия хронические заболевания вен нижних конечностей имеют классическую мультифакториальную этиологию, включающую в себя взаимодействие внешних факторов и особенностей структуры большого количества генов. несмотря на распростра-ненность этих заболеваний, наши знания об их патогенетических и молекулярных механизмах крайне скудны. В основе развития патологических процессов могут быть даже механические факторы, инициирующие сложный каскад клеточных реакций, которые впоследствии могут усиливаться генетическими факторами. гены, вовлеченные в первичную патологию вен, изучены недостаточно, и величину генетического вклада в фенотип заболевания еще предстоит прояснить. В насто-ящем обзоре уделено внимание генетическим составляющим таких состояний, как варикозная болезнь и хроническая венозная недостаточность, с отдельным обсуждением самого тяжелого клинического варианта -венозной трофической язвы. Во многих рассмотренных исследованиях в силу ряда причин предоставлены противоречивые данные о клинической значимости генетических ассоциаций. Прояснению связи генетических маркеров с разными патологическими составля-ющими хронических заболеваний вен будет способствовать проведение многоцентровых международных исследований, согласующихся по критериям включения и исключения пациентов и учитывающих этническую принадлежность анализи-руемых групп. настоящая работа является попыткой критического обзора и анализа литературы по ассоциативным гене-тическим исследованиям, касающимся варикозного расширения вен, хронической венозной недостаточности и венозной трофической язвы. кроме того, в ней обобщена и представлена в лаконичном виде информация, которая может быть полезна для клиницистов и в дальнейшем использована в современной флебологической практике. Chronic venous diseases of the lower extremities have classic multifactorial etiology including the interaction between the external factors and the structural features of a large number of genes. Despite the high prevalence of these diseases, our knowledge of the molecular mechanisms underlying their pathogenesis is extremely scarce. At the heart of the development of pathological processes, there may be even mechanical factors that trigger a complex cascade of cellular reactions that may subsequently be amplified by genetic factors. The genes involved in the primary venous pathology remain elusive and the magnitude of the genetic contribution to the disease phenotype is yet to be clarified. The current review i...

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Loci cg06256735 and cg15815843 in the MFAP5 gene regulatory regions are hypomethylated in varicose veins apparently due to active demethylation

Smetanina,

Korolenya,

Sipin

et al. 2024

Bioscience Reports

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Varicose vein disease (VVD) is a common health problem worldwide. Microfibril Associated Protein 5 (MFAP5) is one of the potential key players in its pathogenesis. Our previous microarray analysis revealed the cg06256735 and cg15815843 loci in the regulatory regions of the MFAP5 gene as hypomethylated in varicose veins which correlated with its up-regulation. The aim of this work was to validate preliminary microarray data, estimate the level of 5-hydroxymethylcytosine (5hmC) at these loci, and determine the methylation status of one of them in different layers of the venous wall. For this, methyl- and hydroxymethyl-sensitive restriction techniques were used followed by real-time PCR and droplet digital PCR, correspondingly, as well as bisulfite pyrosequencing of +/- oxidized DNA. Our microarray data on hypomethylation at the cg06256735 and cg15815843 loci in whole varicose vein segments were confirmed and it was also demonstrated that the level of 5hmC at these loci is increased in VVD. Specifically, among other layers of the venous wall, t. intima is the main contributor to hypomethylation at the cg06256735 locus in varicose veins. Thus, it was shown that hypomethylation at the cg06256735 and cg15815843 loci takes place in VVD, with evidence to suggest that it happens through their active demethylation leading to up-regulation of the MFAP5 gene, and t. intima is most involved in this biochemical process.

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Polymorphisms in the MTHFR and MTR genes and the risk of varicose veins in ethnical Russians

Abstract: Our results provide evidence that the studied polymorphisms do not contribute to genetic susceptibility to varicose veins in ethnical Russians.

Cited by 3 publications

References 42 publications

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

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

The Genetic Base of Chronic Venous Disease: a Review of Modern Concepts

Loci cg06256735 and cg15815843 in the MFAP5 gene regulatory regions are hypomethylated in varicose veins apparently due to active demethylation

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