Involvement of the −420C&gt;G <i><scp>RETN</scp></i> polymorphism in myocardial fibrosis in patients with hypertrophic cardiomyopathy

Hernández-Romero, Diana; Orenes‐Piñero, Esteban; García-Honrubia, Antonio; Climent, Vicente; Romero‐Aniorte, Ana I.; Martínez, Carlos; García-Bautista, Miriam; Martínez, Marcelino Álvarez; Feliu, Eloísa; González, J. M. Rodríguez; Cánovas, Sergio; Montero-Argudo, José A.; Valdés, Mariano; Marı́n, Francisco

doi:10.1111/joim.12334

Cited by 9 publications

(3 citation statements)

References 34 publications

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“…Hypertrophic cardiomyopathy (HCM) is a genetic disorder of the myocardium due to genetic mutations in sarcomere protein genes and is associated with hypertrophy, heart failure, arrhythmias, and sudden cardiac death . Myocardial fibrosis occurs as a maladaptive reaction against impaired cardiac relaxation .…”

Section: Introductionmentioning

confidence: 99%

Increased Transforming Growth Factor‐β Levels Associated With Cardiac Adverse Events in Hypertrophic Cardiomyopathy

Ayça

Şahin

Küçük

et al. 2015

Clinical Cardiology

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Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disease characterized by ventricular hypertrophy, myocardial fibrosis, and impaired ventricular relaxation. The exact mechanisms by which fibrosis is caused remain unknown. Hypothesis: Circulating TGF-β is related to poor prognosis in HCM. Methods: We compared TGF-β levels of 49 HCM patients with those of 40 non-HCM patients. We followed the patients with HCM for 18 months and divided them into 2 groups: low TGF-β (≤4877 pg/mL) and high TGF-β (>4877 pg/mL). We compared the 2 groups in terms of brain natriuretic peptide (BNP), echocardiographic parameters, and clinical outcomes including myocardial infarction, arrhythmias, implantable cardioverterdefibrillator implantation, hospitalization, New York Heart Association (NYHA) class, acute heart failure, and mortality. Results: The HCM patients had higher TGF-β levels than those in the control group (P = 0.005). In the follow-up, those in the high TGF-β group had higher BNP levels, larger left-atrial size, thicker interventricular septum, NYHA class, more hospitalizations, and a greater number of clinical adverse events (P < 0.001, P = 0.01, P < 0.001, P = 0.002, P < 0.001 and P = 0.003, respectively). TGF-β level of >4877 pg/mL can predict adverse events with a specificity of 75% and a sensitivity of 72% (P = 0.014). In multivariate regression analysis, TGF-β, BNP, and interventricular septum thickness were significantly associated with adverse events (P = 0.028, P = 0.030, and P = 0.034, respectively). Conclusions: The TGF-β level is higher in HCM patients and associated with a poor prognosis in HCM.

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Section: Introductionmentioning

confidence: 99%

Increased Transforming Growth Factor‐β Levels Associated With Cardiac Adverse Events in Hypertrophic Cardiomyopathy

Ayça

Şahin

Küçük

et al. 2015

Clinical Cardiology

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“…To date, resistin levels or the role of this SNP have been studied and associated with different conditions, such as cardiovascular diseases, insulin resistance, type 2 diabetes, periodontal inflammation and serious infections among others [5,7,[9][10][11][12][13]18,[20][21][22]. In these studies, the G allele and/or the GG genotype were associated with higher circulating resistin levels.…”

Section: Discussionmentioning

confidence: 99%

No Evidence for Association Between the Functional rs1862513 Polymorphism in the Promoter Region of the Resistin Gene (RETN) and Pulmonary Tuberculosis in Northern Spain

JG¹

2014

Mycobact Dis

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Background: Elevated levels of circulating Resistin, a peptide hormone produced by adipocytes in rodents but also by monocytes and macrophages in humans, has been reported in patients with tuberculosis infection. To date, only a few studies mainly focused in conditions such as diabetes, obesity, and cardio-metabolic risk have treated to analyse the role of single nucleotide polymorphisms in the Resistin Gene (RETN). However, polymorphisms in this gene have not been previously tested in pulmonary tuberculosis susceptibility. Methods:The rs1862513 (-420C>G), a functional polymorphism in the RETN gene, which has been found to increase circulating resistin levels, was analysed in 192 patients with pulmonary tuberculosis, all of them HIV negative, and in 245 healthy individuals from a well genetically conserved Spanish population.Results: Significant differences in genotype and allele frequencies of the rs1862513 functional polymorphism were not observed between patients and normal controls. Conclusion:Our results would indicate that RETN rs1862513 would not play a major role in the susceptibility to pulmonary tuberculosis at least in our population in a well-powered study.

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“…Resistin-420 Cytosine/Guanine (C/G) polymorphism, located in the promoter region of the resistin gene, was reported to be associated with the regulation of resistin gene expression and serum resistin level (11). In addition, an association has been shown between the Resistin-420 C/G variant and diabetes, obesity, and cardiovascular disease in several studies (12)(13)(14). The peroxisome proliferator-activated receptor-gamma (PPAR-γ), localized on chromosome 3p25, is another related gene that is mainly expressed in adipose tissue, the colon, and macrophages.…”

Section: Introductionmentioning

confidence: 99%

Effects of Leptin, Resistin, and <i>PPAR</i>-Gama Gene Variants on Obese Patients with Acute Coronary Syndrome in the Turkish Population

Arat¹,

Yılmaz²,

Yilmaz³

et al. 2020

jarem

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Objective: Obesity and acute coronary syndrome (ACS) are common health problems of recent years. There are many candidate genes related to the genetic infrastructure of ACS and obesity. This study aimed to investigate the association of Leptin glutamine to arginine substitution (Gln223Arg), Resistin-420 Cytosine/Guanine (C/G), and proliferator-activated receptor-gamma (PPAR-γ) proline to alanine substitution (Pro12Ala) polymorphisms in obese patients with ACS in the Turkish population. Methods: Fifty obese patients concurrently diagnosed with ACS and 42 healthy controls were included in this study. These polymorphisms were analyzed using the polymerase chain reaction-restriction fragment length polymorphism and agarose gel electrophoresis methods. Results: The PPAR-γ Pro12Ala polymorphism Pro/Ala genotype (p=0.001) was found to be higher in the obese patients with ACS, while the (Proline/ Proline) genotype (p=0.001) was significantly higher in the control group. The GC genotype (p=0.045) distribution of Resistin-420 C/G was found to be significantly higher in the controls compared to the patient group. Conclusion: Our study presents new findings that the PPAR-γ Pro12Ala polymorphism Pro/Ala genotype is a risk factor for ACS in obese individuals, whereas Resistin-420 C/G polymorphism GC genotype and PPAR-γ Pro12Ala polymorphism Pro/Pro genotype may be protective factors for ACS in obese individuals.

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Involvement of the −420C>G RETN polymorphism in myocardial fibrosis in patients with hypertrophic cardiomyopathy

Cited by 9 publications

References 34 publications

Increased Transforming Growth Factor‐β Levels Associated With Cardiac Adverse Events in Hypertrophic Cardiomyopathy

Increased Transforming Growth Factor‐β Levels Associated With Cardiac Adverse Events in Hypertrophic Cardiomyopathy

No Evidence for Association Between the Functional rs1862513 Polymorphism in the Promoter Region of the Resistin Gene (RETN) and Pulmonary Tuberculosis in Northern Spain

Effects of Leptin, Resistin, and <i>PPAR</i>-Gama Gene Variants on Obese Patients with Acute Coronary Syndrome in the Turkish Population

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