Association Between Coronary Artery Disease Genetic Variants and Subclinical Atherosclerosis: An Association Study and Meta-analysis

Zabalza, Michel; Subirana, Isaac; Lluís-Ganella, Carla; Sayols-Baixeras, Sergi; Groot, Eric de; Arnold, Román; Cenarro, Ana; Ramos, Rafael; Marrugat, Jaume; Elosúa, Roberto

doi:10.1016/j.rec.2014.10.023

Cited by 15 publications

(11 citation statements)

References 39 publications

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“…However, a study by Conde et al showed no association between several CAD-associated SNPs and CIMT, which suggests different genetic bases for subclinical atherosclerosis and coronary artery disease [6]. Similar results were reported by Zabalza et al-no association was found between 9 CAD-associated variants and 3 subclinical atherosclerosis measurements (including CIMT); interestingly, this result was observed regardless of the fact whether the variants were analyzed individually or as a weighted genetic risk score [7]. A large meta-analysis of genome-wide association studies (GWAS) from the CHARGE consortium identified 3 genomic regions associated with common CIMT and 2 different regions associated with the presence of carotid plaque [8].…”

Section: Introductionsupporting

confidence: 57%

“…The associations of CAD risk variants SNPs with subclinical atherosclerosis were tested in several studies. Studies by Conde et al and by Zabalza et al did not find an association between CAD risk variants and subclinical atherosclerosis [6,7]. One might speculate that the effects of a single variant might be very modest; if this is the case, a GRS might allow finding an association.…”

Section: Discussionmentioning

confidence: 92%

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Common atherosclerosis genetic risk factors and subclinical atherosclerosis in rheumatoid arthritis: the relevance of disease duration

et al. 2018

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Rheumatoid arthritis (RA) is a common systemic autoimmune disease characterized by increased cardiovascular morbidity. Several previous studies assessed associations between common atherosclerotic genetic risk factors and subclinical atherosclerosis (SA) in RA patients, yet most of them gave negative results. We undertook a cross-sectional study to evaluate the association between previously reported SNPs and subclinical atherosclerosis in a cohort of Polish RA patients. 29 SNPs associated with atherosclerosis in general population were genotyped in 289 RA patients: 116 patients with SA (increased carotid intima-media thickness and/or presence of carotid plaque) and 173 patients without SA. To assess the cumulative effect of SNPs we calculated 3 weighted genetic risk scores: GRS IMT , GRS CP and GRS CAD , comprising intima-media thickness-associated SNPs, carotid plaque-associated SNPs and coronary artery disease-associated SNPs, respectively. None of the SNPs showed a significant association with SA. However, we found an association between SA and GRS IMT. Interestingly, this association was limited to patients with short disease duration (P = 0.00004 vs. P > 0.5, for comparison of GRS IMT among patients within the 1st quartile of disease duration vs. others, respectively). Patients within the 1st quartile of disease duration were more frequently disease modifying anti-rheumatic drugs (DMARDs)-naïve and less frequently treated with biologics. Our study suggests that in patients with early RA subclinical atherosclerosis may be driven by similar genetic factors as in general population, while in long-lasting disease, the role common genetic risk factors may decrease. Possibly, this effect may be due to the influence of DMARDs.

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Section: Introductionsupporting

confidence: 57%

Section: Discussionmentioning

confidence: 92%

Common atherosclerosis genetic risk factors and subclinical atherosclerosis in rheumatoid arthritis: the relevance of disease duration

et al. 2018

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“…Increased arterial stiffness means deterioration in arterial elastic properties. It is a generally used parameter for detection of subclinical atherosclerosis and cardiovascular risk . However, pulmonary arterial stiffness (PAS), a new Doppler echocardiographic parameter, can be used to determine the right ventricle and pulmonary vascular bed functions .…”

mentioning

confidence: 99%

“…It is a generally used parameter for detection of subclinical atherosclerosis and cardiovascular risk. 7,8 However, pulmonary arterial stiffness (PAS), a new Doppler echocardiographic parameter, can be used to determine the right ventricle and pulmonary vascular bed functions. 9 It is known that impaired pulmonary artery distensibility shortens the duration of right ventricular systolic ejection time obtained from pulmonary artery systolic wave.…”

mentioning

confidence: 99%

Evaluation of Pulmonary Artery Stiffness in Patients with Obstructive Sleep Apnea Syndrome

Altıparmak

Erkuş

Polat³

et al. 2015

Echocardiography

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“…Recent work has demonstrated that overexpression of WDR12 is induced by cardiac overload, and genome association studies have associated the WDR12 gene with early onset myocardial infarction and coronary artery disease (20,48). Up-regulation of WDR12 has also been shown to lead to activation of the p38 MAPK pathway, an increase in levels of Bop1, and ultimately myocardial dysfunction, suggesting that WDR12 could be a novel therapeutic target for patients with failing hearts (20).…”

Section: Discussionmentioning

confidence: 99%

The Crystal Structure of the Ubiquitin-like Domain of Ribosome Assembly Factor Ytm1 and Characterization of Its Interaction with the AAA-ATPase Midasin

Romes

Sobhany

Stanley

2016

Journal of Biological Chemistry

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The synthesis of eukaryotic ribosomes is a complex, energetically demanding process requiring the aid of numerous nonribosomal factors, such as the PeBoW complex. The mammalian PeBoW complex, composed of Pes1, Bop1, and WDR12, is essential for the processing of the 32S preribosomal RNA. Previous work in Saccharomyces cerevisiae has shown that release of the homologous proteins in this complex (Nop7, Erb1, and Ytm1, respectively) from preribosomal particles requires Rea1 (midasin or MDN1 in humans), a large dynein-like protein.Midasin contains a C-terminal metal ion-dependent adhesion site (MIDAS) domain that interacts with the N-terminal ubiquitin-like (UBL) domain of Ytm1/WDR12 as well as the UBL domain of Rsa4/Nle1 in a later step in the ribosome maturation pathway. Here we present the crystal structure of the UBL domain of the WDR12 homologue from S. cerevisiae at 1.7 Å resolution and demonstrate that human midasin binds to WDR12 as well as Nle1 through their respective UBL domains. Midasin contains a well conserved extension region upstream of the MIDAS domain required for binding WDR12 and Nle1, and the interaction is dependent upon metal ion coordination because removal of the metal or mutation of residues that coordinate the metal ion diminishes the interaction. Mammalian WDR12 displays prominent nucleolar localization that is dependent upon active ribosomal RNA transcription. Based upon these results, we propose that release of the PeBoW complex and subsequent release of Nle1 by midasin is a well conserved step in the ribosome maturation pathway in both yeast and mammalian cells.Ribosomes are large macromolecular machines composed of four pieces of ribosomal RNA (rRNA) 2 and 80 (79 in yeast) associated ribosomal proteins (1, 2). Ribosomes are responsible for carrying out the synthesis of all proteins within a cell, and the eukaryotic ribosome is composed of two subunits known as the small subunit (40S) and the large subunit (60S). The assembly of ribosomes begins in the nucleolus with the transcription of the rRNAs. Three of the rRNAs are transcribed as a single polycistronic precursor (18S, 5.8S, and 25S), which must then be modified, folded, processed, and exported to the cytoplasm in a carefully orchestrated manner (3, 4). Ribosome biogenesis in eukaryotic cells is an incredibly complex and energetically demanding process that requires more than 200 essential nonribosomal assembly factors (3-6). Defects in the mammalian ribosome biogenesis pathway are linked to a group of human diseases that are collectively called ribosomopathies. These are all congenital, inherited disorders with a broad clinical spectrum that have perplexed researchers for years because they cause tissue-specific effects although ribosomes are essential in all cell types (7). Ribosome biogenesis has also been emerging as a new target for cancer therapy. Recent studies have shown that several important oncogenes, including cMYC, RAS, and PI3K, play key roles in promoting hyperactive ribosome biogenesis, and deregulated ribosomal DNA...

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Association Between Coronary Artery Disease Genetic Variants and Subclinical Atherosclerosis: An Association Study and Meta-analysis

Cited by 15 publications

References 39 publications

Common atherosclerosis genetic risk factors and subclinical atherosclerosis in rheumatoid arthritis: the relevance of disease duration

Common atherosclerosis genetic risk factors and subclinical atherosclerosis in rheumatoid arthritis: the relevance of disease duration

Evaluation of Pulmonary Artery Stiffness in Patients with Obstructive Sleep Apnea Syndrome

The Crystal Structure of the Ubiquitin-like Domain of Ribosome Assembly Factor Ytm1 and Characterization of Its Interaction with the AAA-ATPase Midasin

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