The rs1800470 Polymorphism of the &lt;i&gt;TGFB1&lt;/i&gt; Gene Is Associated with Myocardial Fibrosis in Heart Transplant Recipients

Гичкун, О. Е.; Shevchenko, O. P.; Курабекова, Р. М.; Mozheiko, Natalya Р.; Шевченко, А. О.

doi:10.32607/actanaturae.11469

Cited by 4 publications

(10 citation statements)

References 15 publications

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“…It is possible that the rs1800469 polymorphism alters promoter affinity for the transcription factors and inhibits TGFβ expression, thus activating proinflammatory cytokines (tumour necrosis factor α and interleukin 1) that contribute to the progression of CAD [58]. No association between the 509C/T polymorphism and CAD was detected in a group of German patients [60]. The inconclusive data from several studies on the rs1800469 promoter SNP still do not support its role in CAD.…”

Section: Matrixmentioning

confidence: 98%

See 1 more Smart Citation

Genetic Risk Factors Related to Coronary Artery Disease and Role of Transforming Growth Factor Beta 1 Polymorphisms

Malinowski

Bochniak

Luterek-Puszyńska

et al. 2023

Genes

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Coronary artery disease (CAD) is one of the leading causes of mortality globally and has long been known to be heritable; however, the specific genetic factors involved have yet to be identified. Recent advances have started to unravel the genetic architecture of this disease and set high expectations about the future use of novel susceptibility variants for its prevention, diagnosis, and treatment. In the past decade, there has been major progress in this area. New tools, like common variant association studies, genome-wide association studies, meta-analyses, and genetic risk scores, allow a better understanding of the genetic risk factors driving CAD. In recent years, researchers have conducted further studies that confirmed the role of numerous genetic factors in the development of CAD. These include genes that affect lipid and carbohydrate metabolism, regulate the function of the endothelium and vascular smooth muscles, influence the coagulation system, or affect the immune system. Many CAD-associated single-nucleotide polymorphisms have been identified, although many of their functions are largely unknown. The inflammatory process that occurs in the coronary vessels is very important in the development of CAD. One important mediator of inflammation is TGFβ1. TGFβ1 plays an important role in the processes leading to CAD, such as by stimulating macrophage and fibroblast chemotaxis, as well as increasing extracellular matrix synthesis. This review discusses the genetic risk factors related to the development of CAD, with a particular focus on polymorphisms of the transforming growth factor β (TGFβ) gene and its receptor.

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Section: Matrixmentioning

confidence: 98%

“…Also, inconsistent results regarding the role of TGFβ1 levels in the development of CAD have been reported in studies of CAD in animal models [52]. Gichkun et al hypothesized that the TGFβ1 gene and its multiple variants are involved in creating a genetic predisposition to myocardial fibrosis in heart transplant recipients [60].…”

Section: Matrixmentioning

confidence: 99%

Genetic Risk Factors Related to Coronary Artery Disease and Role of Transforming Growth Factor Beta 1 Polymorphisms

Malinowski

Bochniak

Luterek-Puszyńska

et al. 2023

Genes

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“…Хотя аминокислотная последовательность активной формы TGF-β1 у млекопитающих высоко консервативна [46], также идентифицированы множественные вариации TGF-β1, которые могут вызывать вариабельную конститутивную или индуцированную экспрессию TGF-β1 или структурные изменения белка и, как следствие, измененную активность TGF-β1. К настоящему времени восемь сайтов полиморфизма однонуклеотидных замен и делеции/вставки признаны влияющими на экспрессию и активность TGF-β1, включая два сайта в области промотора: rs1800468 (-800 G/A) и rs1800469 (-509 C/T); два сайта в области сигнального пептида: rs1982073 (868 T/C, Leu10Pro) и rs1800471 (913 G/C, Arg25Pro); и сайт в районе, кодирующем прекурсорную часть белка: rs1800472 (11929 C/T, Thr263Ile) [46][47][48]. Исследователи уделяют особое внимание следующим полиморфизмам гена TGF-β1, связанным с сердечно-сосудистыми заболеваниями: сайт rs1800469 промотора и сайт первого экзона rs1800471 [48].…”

Section: трансформирующий фактор ростаunclassified

“…К настоящему времени восемь сайтов полиморфизма однонуклеотидных замен и делеции/вставки признаны влияющими на экспрессию и активность TGF-β1, включая два сайта в области промотора: rs1800468 (-800 G/A) и rs1800469 (-509 C/T); два сайта в области сигнального пептида: rs1982073 (868 T/C, Leu10Pro) и rs1800471 (913 G/C, Arg25Pro); и сайт в районе, кодирующем прекурсорную часть белка: rs1800472 (11929 C/T, Thr263Ile) [46][47][48]. Исследователи уделяют особое внимание следующим полиморфизмам гена TGF-β1, связанным с сердечно-сосудистыми заболеваниями: сайт rs1800469 промотора и сайт первого экзона rs1800471 [48]. Получены данные о значимости носительства вариантных аллелей сайта -509 C > T TGF-β1, а также мажорных аллелей сайтов 869 T > C и 915 G > C TGF-β1 ассоциированы с более высоким уровнем белка в плазме [49].…”

Section: трансформирующий фактор ростаunclassified

Some molecular genetic risk factors for myocardial fibrosis (Literature review)

Гриценко

Чумакова

Понасенко

et al. 2022

SJCEM

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“…Данных о влиянии полиморфизма TGFB1 на развитие фиброза миокарда крайне мало, имеются лишь единичные данные, полученные на ограниченных выборках. Так, в одном из исследований, проведенном на смешанной популяции западной части России, проанализирована генетическая предрасположенность к фиброзу миокарда у реципиентов трансплантата сердца, и обнаружены значимые ассоциации между этим признаком и носительством минорного аллеля TGFB1 s1800470 [11].…”

Section: пациенты выделенных групп эо+ и эо-не имелиunclassified

Profibrotic genetic polymorphisms as possible risk factors for the development of diastolic dysfunction in patients with epicardial adiposity

et al. 2022

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Aim. To determine the associations of variable sites of fibrogenesis genes with the risk of left ventricular (LV) diastolic dysfunction (DD) in patients with epicardial adiposity (EA).Material and methods. The study included 101 men with general obesity (Altai Territory) without cardiovascular diseases, diabetes and documented LVDD, of which, after determining the epicardial fat thickness (EFT), 2 groups were formed: group 1 — with EA (EA+), EFT ≥7 mm or more (n=70); group 2 — without EA (EA-), EFT <7 mm (n=31). The control group was formed from Kemerovo region residents of the corresponding sex and age and without a history of cardiovascular diseases and general obesity. Polymorphisms of the MMP9 rs17576, TGFB1 rs1800469, MMP3 rs6796620, MMP3 rs626750, MMP1 rs514921, LOC101927143 rs4290029, TIMP2 rs2277698 genes were determined in all patients using the polymerase chain reaction. After 4,7±0,3 years, all patients with general obesity underwent repeated echocardiography to assess LVDD.Results. We found that in the group with EA for rs626750 MMP3, the carriage of the homozygous T allele is 2 times more common (recessive inheritance, p=0,0022). After 4,7±0,3 years, LVDD was registered in 18 patients in the EA+ group and in 2 patients in the EA- group. When analyzing inheritance patterns, as well as comparing genotypes in groups of patients with EA with developed LVDD (n=20) and without LVDD (n=78), we found that patients with EA and LVDD are 3,4 times more likely to be a carrier of the homozygous T allele (recessive inheritance, p=0,02) for rs1800469 TGFB1.Conclusion. In patients with EA and LVDD, the carriage of the T rs1800469 TGFB1 allele is more common, which probably contributes to cardiac fibrosis and LVDD according to a recessive inheritance.

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The rs1800470 Polymorphism of the <i>TGFB1</i> Gene Is Associated with Myocardial Fibrosis in Heart Transplant Recipients

Cited by 4 publications

References 15 publications

Genetic Risk Factors Related to Coronary Artery Disease and Role of Transforming Growth Factor Beta 1 Polymorphisms

Genetic Risk Factors Related to Coronary Artery Disease and Role of Transforming Growth Factor Beta 1 Polymorphisms

Some molecular genetic risk factors for myocardial fibrosis (Literature review)

Profibrotic genetic polymorphisms as possible risk factors for the development of diastolic dysfunction in patients with epicardial adiposity

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