Genetic polymorphisms associated with heart failure: A literature review

Guo, Mengye; Guo, Guanlun; Ji, Xiaoping

doi:10.1177/0300060515604755

Cited by 19 publications

(16 citation statements)

References 117 publications

(250 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Heart failure (HF) is a chronic and progressive syndrome of insufficient cardiac output resulting from myocardial injury; it remains a leading cause of morbidity and mortality worldwide 1 . HF is a multifactorial disease, and the interaction of several genetic variants results in differential HF susceptibility, therapeutic response, and prognosis 2 . During HF development, the left ventricle (LV) undergoes structural and functional changes involving cardiomyocyte death, fibrosis, inflammation, and electrophysiological remodelling 3 , 4 .…”

Section: Introductionmentioning

confidence: 99%

Relationship of polymorphisms in the tissue inhibitor of metalloproteinase (TIMP)-1 and -2 genes with chronic heart failure

Polina

Araújo

Sbruzzi

et al. 2018

Sci Rep

View full text Add to dashboard Cite

Dysregulated expression of tissue inhibitors of matrix metalloproteinases (TIMPs) is associated with systolic dysfunction and worsening heart failure (HF). However, no study has assessed the relationship between TIMP polymorphisms and chronic HF. In this study, 300 HF outpatients with reduced left ventricular ejection fraction and 304 healthy blood donors were genotyped for the 372 T > C polymorphism (Phe124Phe; rs4898) in the TIMP-1 gene and the −418 G > C polymorphism (rs8179090) in the TIMP-2 gene to investigate whether these polymorphisms are associated with HF susceptibility and prognosis. The genotype and allele frequencies of the 372 T > C polymorphism in HF patients were not significantly different from those observed among healthy subjects, and the C allele of the −418 G > C polymorphism was very rare in our population (frequency < 1%). After a median follow-up duration of 5.5 years, 121 patients (40.3%) died (67 of them from HF). Survival analysis did not show statistically significant differences in all-cause death and HF-related death between patients with and without the T allele (P > 0.05 for all comparisons). Thus, our findings do not support the hypothesis that the 372 T > C (Phe124Phe) polymorphism in the TIMP-1 gene and the −418 G > C polymorphism in the TIMP-2 gene are associated with HF susceptibility and prognosis in Southern Brazilians.

show abstract

Section: Introductionmentioning

confidence: 99%

Relationship of polymorphisms in the tissue inhibitor of metalloproteinase (TIMP)-1 and -2 genes with chronic heart failure

Polina

Araújo

Sbruzzi

et al. 2018

Sci Rep

View full text Add to dashboard Cite

show abstract

“…It is defined as a multifactorial disease, which involves environmental factors and genetic predispositions and severely affects the quality of life of these patients (1). Genetic polymorphisms are involved in the pathogenesis of heart failure, but also in disease progression, and they may influence clinical outcomes or therapeutic responses (2)(3)(4)(5)(6)(7)(8)(9)(10).…”

Section: Introductionmentioning

confidence: 99%

“…It is well known that the renin-angiotensin system (RAS) plays an important role in heart failure progression. Angiotensin converting enzyme (ACE) converts angiotensin I (Ang I) to angiotensin II (Ang II), and angiotensin converting enzyme 2 (ACE2) cleaves Ang I into Ang- (1)(2)(3)(4)(5)(6)(7)(8)(9) and Ang II into Ang- (1)(2)(3)(4)(5)(6)(7). Ang II has pro-inflammatory and pro-atherosclerotic effects, and promotes hypertrophy and fibrosis, while Ang-(1-7) reduces left ventricular remodeling and the infarcted area, protects against cardiac hypertrophy, therefore having a cardioprotective effect.…”

Section: Introductionmentioning

confidence: 99%

Clinical impact of echocardiography parameters and molecular biomarkers in heart failure: Correlation of ACE2 and MCP‑1 polymorphisms with echocardiography parameters: A comparative study

et al. 2021

View full text Add to dashboard Cite

Heart failure is still the leading cause of hospitalization in patients over 65 years of age and is defined as a multifactorial pathology which involves environmental factors and also genetic predispositions. The aim of the present study was to evaluate a possible correlation between single nucleotide polymorphisms (SNPs) of angiotensin converting enzyme 2 (ACE2) and monocyte chemoattractant protein-1 (MCP-1) genes and cardiac remodeling in Caucasian patients diagnosed with heart failure. Our comparative translational research study included 116 patients diagnosed with heart failure and was carried out in Cluj-Napoca, Romania between September 2017 and March 2019. Three SNPs, namely rs4646156, rs4646174 and rs1024611, were genotyped using a Taqman real-time PCR technique. Our results showed that carriers of the AA genotype for ACE2 rs4646156 had a significant dilatation of the left ventricle (LV) with signs of LV hypertrophy (LVH), while TT carriers had a significant left atrial dilatation. For ACE2 rs4646174, homozygotes for the C allele presented a dilated LV with signs of LVH with statistical significance and had a tendency towards a lower ejection fraction. MCP-1 rs1024611 AA variant carriers had a significant LVH in the dominant model. In conclusion, our study showed a strong association between echocardiographic parameters of cardiac remodeling and SNPs rs4646156, rs4646174 of ACE2 and rs1024611 of MCP-1.

show abstract

“…Известно, что у больных ГБ нейрогормональная активация играет ключевую роль в патогенезе структурных изменений сердца и последующего развития дисфункции ЛЖ как диагностического критерия ХСН [6]. Тем не менее, риск развития ХСН, степень ее тяжести, терапевтический ответ или прогноз варьируют в разных популяциях, что может быть связано с генетической детерминированностью.…”

unclassified

“…Тем не менее, риск развития ХСН, степень ее тяжести, терапевтический ответ или прогноз варьируют в разных популяциях, что может быть связано с генетической детерминированностью. Вклад наследственной (генетической) предрасположенности в формирование ХСН у больных ГБ находится в центре интенсивного исследовательского интереса и остается дискуссионным [6].…”

unclassified

The relationship of gene polymorphism with the heart failure risk in patients with hypertension and high adherence to treatment

Козиолова

Chernyavina

2020

Russ J Cardiol

View full text Add to dashboard Cite

Взаимосвязь полиморфизма генов с риском развития хронической сердечной недостаточности у больных гипертонической болезнью при высокой приверженности к лечениюКозиолова Н. А., Чернявина А. И.Цель. Определить риск развития хронической сердечной недостаточности (ХСН) у больных гипертонической болезнью (ГБ) при высокой приверженности к лечению в зависимости от концентрации N-терминального фрагмента предшественника мозгового натрийуретического пептида (NТ-proBNP) в крови и наличия полиморфизма некоторых генов. Материал и методы. В исследование было включено 232 пациента с ГБ без верифицированного диагноза ХСН. Средний возраст составил 46, 13±8,21 лет. Пациентам проводились оценка генотипов по маркерам AGT Thr174Met rs4762, GNB3 C825T rs5443, MTHFR C677T rs1801133, MTRR Ile22Met rs1801394, ApoE Cys130Arg rs429358, PPARα G/C rs4253778; эхокардиография с оценкой фракции выброса, диастолической функции и индекса массы миокарда левого желудочка; определение концентрации NT-proBNP в крови. Пациенты были разделены на две группы в зависимости от концентрации NT-proBNP в крови. Первую группу составили 64 (27,6%) пациента с уровнем NТ-proBNP >125 пг/мл, вторую группу -168 (72,4%) пациентов с уровнем NT-proBNP <125 пг/мл. Результаты. Среди пациентов с повышением уровня NT-proBNP >125 пг/мл наиболее значимым является генотип С/Т полиморфизма C677T rs1801133 гена MTHFR, 95% доверительный интервал (ДИ) для оценки отношения шансов (ОШ) и относительного риска (RR) развития ХСН составил 4,82 и 3,29, соответственно (95% ДИ для ОШ=2,24-10,60; для RR=1,80-6,39). Статистически значимыми оказались генотипы A/G и G/G полиморфизма Ile22Met rs1801394 гена MTRR. Шанс развития ХСН при генотипе A/G по гену MTRR увеличивался более, чем в 2 раза (ОШ=2,32, 95% ДИ=1, 15-4,64), а RR ее развития составлял 1,77 (95% ДИ=1, 11-2,69), при наличии генотипа G/G -шанс развития ХСН увеличивался больше, чем в 3 раза (ОШ=3,65, 95% ДИ=1,37-9,76), а RR ее развития составлял 2,20 (95% ДИ=1,25-3,27). При проведении корреляционного анализа выявлена средней степени зависимости прямая взаимосвязь между уровнем NT-proBNP и наличием полиморфизма генов MTHFR (r=0,47; p<0,005) и MTRR (r=0,33; p<0,05). Заключение. У больных ГБ при высокой приверженности к лечению риск развития ХСН при наличии NT-proBNP >125 пг/мл зависит от генетической детерминированности. Генами-кандидатами для развития ХСН у больных ГБ при высокой приверженности к лечению являются генотипы С/Т полиморфизма C677T rs1801133 гена MTHFR, генотипы A/G и G/G полиморфизма Ile22Met rs1801394 гена MTRR.Ключевые слова: полиморфизмы генов, гипертоническая болезнь, натрийуретические пептиды.

show abstract

Genetic polymorphisms associated with heart failure: A literature review

Cited by 19 publications

References 117 publications

Relationship of polymorphisms in the tissue inhibitor of metalloproteinase (TIMP)-1 and -2 genes with chronic heart failure

Relationship of polymorphisms in the tissue inhibitor of metalloproteinase (TIMP)-1 and -2 genes with chronic heart failure

Clinical impact of echocardiography parameters and molecular biomarkers in heart failure: Correlation of ACE2 and MCP‑1 polymorphisms with echocardiography parameters: A comparative study

The relationship of gene polymorphism with the heart failure risk in patients with hypertension and high adherence to treatment

Contact Info

Product

Resources

About