<i>COL5A1</i>
            Variants Cause Aortic Dissection by Activating TGF‐β‐Signaling Pathway

Chen, Peng; Yu, Bo; Li, Zongzhe; Chen, Yanghui; Sun, Yang; Wang, Dao Wen

doi:10.1161/jaha.120.019276

Cited by 8 publications

(8 citation statements)

References 43 publications

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“…In the “shared” category, 13 genes have been previously linked to weight loss [ 118 ], eight to congenital heart defects [ 119 , 120 ], and individual genes have been associated with incident coronary heart disease [ 121 ] and myocardial infarction [ 122 ]. The “vasculature” category includes four genes that have been previously identified as related to chronic Chagasic cardiomyopathy [ 123 ], four to diabetes mellitus [ 124 ], and individual genes have been found to be associated with atherothrombotic stroke [ 125 ], cognitive function in CVD [ 126 ], and aortic dissection [ 127 ].…”

Section: Resultsmentioning

confidence: 99%

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DNA methylation and cardiovascular disease in humans: a systematic review and database of known CpG methylation sites

et al. 2023

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Background Cardiovascular disease (CVD) is the leading cause of death worldwide and considered one of the most environmentally driven diseases. The role of DNA methylation in response to the individual exposure for the development and progression of CVD is still poorly understood and a synthesis of the evidence is lacking. Results A systematic review of articles examining measurements of DNA cytosine methylation in CVD was conducted in accordance with PRISMA (preferred reporting items for systematic reviews and meta-analyses) guidelines. The search yielded 5,563 articles from PubMed and CENTRAL databases. From 99 studies with a total of 87,827 individuals eligible for analysis, a database was created combining all CpG-, gene- and study-related information. It contains 74,580 unique CpG sites, of which 1452 CpG sites were mentioned in ≥ 2, and 441 CpG sites in ≥ 3 publications. Two sites were referenced in ≥ 6 publications: cg01656216 (near ZNF438) related to vascular disease and epigenetic age, and cg03636183 (near F2RL3) related to coronary heart disease, myocardial infarction, smoking and air pollution. Of 19,127 mapped genes, 5,807 were reported in ≥ 2 studies. Most frequently reported were TEAD1 (TEA Domain Transcription Factor 1) and PTPRN2 (Protein Tyrosine Phosphatase Receptor Type N2) in association with outcomes ranging from vascular to cardiac disease. Gene set enrichment analysis of 4,532 overlapping genes revealed enrichment for Gene Ontology molecular function “DNA-binding transcription activator activity” (q = 1.65 × 10–11) and biological processes “skeletal system development” (q = 1.89 × 10–23). Gene enrichment demonstrated that general CVD-related terms are shared, while “heart” and “vasculature” specific genes have more disease-specific terms as PR interval for “heart” or platelet distribution width for “vasculature.” STRING analysis revealed significant protein–protein interactions between the products of the differentially methylated genes (p = 0.003) suggesting that dysregulation of the protein interaction network could contribute to CVD. Overlaps with curated gene sets from the Molecular Signatures Database showed enrichment of genes in hemostasis (p = 2.9 × 10–6) and atherosclerosis (p = 4.9 × 10–4). Conclusion This review highlights the current state of knowledge on significant relationship between DNA methylation and CVD in humans. An open-access database has been compiled of reported CpG methylation sites, genes and pathways that may play an important role in this relationship.

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Section: Resultsmentioning

confidence: 99%

“…2 31,087,713 [ 123 ] CD2, CCR5, CCR2, CD8A Diabetes mellitus E11.9 10,400,139 [ 124 ] ARHGEF10 Atherothrombotic stroke I63.40 20,042,462 [ 125 ] CAMTA1 Cognitive function in adults with cardiovascular disease - 21,951,953 [ 126 ] COL5A1 Aortic dissection I71. 010 34,041,919 [ 127 ] …”

Section: Resultsmentioning

confidence: 99%

DNA methylation and cardiovascular disease in humans: a systematic review and database of known CpG methylation sites

et al. 2023

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“…Other exosomal factors found upregulated in the absence of GPS2 instead are good candidates for mediating the communication between adipocytes and adipose stromal cells. Among them LAMC1, COL5A1, and THBS1 were previously identified as candidate ligands for signaling to ASPCs and macrophages [ 47 ] and are known as important ECM regulators and profibrotic signaling molecules [ 14 , 24 , 37 , 78 , 110 ]. Glycoprotein Thrombospondin-1 (THBS1), in particular, is an adipokine acutely upregulated in obesity with established connections to adipose inflammation, insulin resistance, and modulation of preadipocyte proliferation [ 83 , 98 , 156 ].…”

Section: Discussionmentioning

confidence: 99%

GPS2-mediated regulation of the adipocyte secretome modulates adipose tissue remodeling at the onset of diet-induced obesity

English¹,

Orofino²,

Cederquist³

et al. 2023

Molecular Metabolism

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“…It is interesting to note that COL5A1 mutations were correlated to a high probability of dissection in a FMD patients [ 45 ]. Rare variants of COL5A1 and other fibrillar collagens were recently also reported in CeAD [ 89 ], SCAD [ 90 ], and aortic dissection [ 91 ], in the absence of FMD in those patients. Several genes involved in deposition of the extracellular matrix were recently associated to SCAD, but were not involved in the genetic risk for FMD for now.…”

Section: Genetic Data Supports Etiological Links Between Fmd and Comm...mentioning

confidence: 92%

The complex genetic basis of fibromuscular dysplasia, a systemic arteriopathy associated with multiple forms of cardiovascular disease

Georges

Bouatia-Naji

2022

Clinical Science

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Artery stenosis is a common cause of hypertension and stroke and can be due to atherosclerosis accumulation in the majority of cases and in a small fraction of patients to arterial fibromuscular dysplasia (FMD). Artery stenosis due to atherosclerosis is widely studied with known risk factors (e.g. increasing age, male gender, and dyslipidemia) to influence its etiology, including genetic factors. However, the causes of noninflammatory and nonatherosclerotic stenosis in FMD are less understood. FMD occurs predominantly in early middle-age women, a fraction of the population where cardiovascular risk is different and understudied. FMD arteriopathies are often diagnosed in the context of hypertension and stroke and co-occur mainly with spontaneous coronary artery dissection, an atypical cause of acute myocardial infarction. In this review, we provide a comprehensive overview of the recent advances in the understanding of molecular origins of FMD. Data were obtained from genetic studies using complementary methodological approaches applied to familial, syndromic, and sporadic forms of this intriguing arteriopathy. Rare variation analyses point toward mechanisms related to impaired prostacyclin signaling and defaults in fibrillar collagens. The study of common variation, mainly through a recent genome-wide association study, describes a shared genetic link with blood pressure, in addition to point at potential risk genes involved in actin cytoskeleton and intracellular calcium homeostasis supporting impaired vascular contraction as a key mechanism. We conclude this review with future strategies and approaches needed to fully understand the genetic and molecular mechanisms related to FMD.

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COL5A1 Variants Cause Aortic Dissection by Activating TGF‐β‐Signaling Pathway

Cited by 8 publications

References 43 publications

DNA methylation and cardiovascular disease in humans: a systematic review and database of known CpG methylation sites

DNA methylation and cardiovascular disease in humans: a systematic review and database of known CpG methylation sites

GPS2-mediated regulation of the adipocyte secretome modulates adipose tissue remodeling at the onset of diet-induced obesity

The complex genetic basis of fibromuscular dysplasia, a systemic arteriopathy associated with multiple forms of cardiovascular disease

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