ANKS1A genotype predicts cardiovascular events in patients with familial hypercholesterolemia

Fantino, Manon; Paquette, Martine; Bernard, Sophie; Baass, Alexis

doi:10.1016/j.jacl.2021.05.006

Cited by 2 publications

(1 citation statement)

References 34 publications

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“…Using genetic risk scores in FH + patients, further enhanced prediction of CVD ( Paquette et al, 2017 ). Also, recently, the same group has documented that rs17609940 variant of the ANKS1A gene is associated with increase in CVD events in FH + patients ( Fantino et al, 2021 ).…”

Section: Familial Hypercholesterolemia-mutation and Cardiovascular Di...mentioning

confidence: 99%

The risk of various types of cardiovascular diseases in mutation positive familial hypercholesterolemia; a review

et al. 2022

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Familial hypercholesterolemia (FH) is a common, inherited disease characterized by high levels of low-density lipoprotein Cholesterol (LDL-C) from birth. Any diseases associated with increased LDL-C levels including atherosclerotic cardiovascular diseases (ASCVDs) would be expected to be overrepresented among FH patients. There are several clinical scoring systems aiming to diagnose FH, however; most individuals who meet the clinical criteria for a FH diagnosis do not have a mutation causing FH. In this review, we aim to summarize the literature on the risk for the various forms of ASCVD in subjects with a proven FH-mutation (FH+). We searched for studies on FH+ and cardiovascular diseases and also included our and other groups published papers on FH + on a wide range of cardiovascular and other diseases of the heart and vessels. FH + patients are at a markedly increased risk of a broad range of ASCVD. Acute myocardial infarction (AMI) is the most common in absolute numbers, but also aortic valve stenosis is by far associated with the highest excess risk. Per thousand patients, we observed 3.6 incident AMI per year compared to 1.9 incident aortic valve stenosis, however, standardized incidence ratio (SIR) for incident AMI was 2.3 compared to 7.9 for incident aortic valve stenosis. Further, occurrence of ischemic stroke seems not to be associated with increased risk in FH+. Clinicians should be aware of the excess risk of almost all kind of ASCVD in FH+, and the neutral risk of stroke need to be studied further in FH + patients.

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Section: Familial Hypercholesterolemia-mutation and Cardiovascular Di...mentioning

confidence: 99%

The risk of various types of cardiovascular diseases in mutation positive familial hypercholesterolemia; a review

et al. 2022

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Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease

Rönn

Perfilyev

Jönsson

et al. 2023

Human Molecular Genetics

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Background Dysregulation of circulating lipids is a central element for the metabolic syndrome. However, it is not well established whether human subcutaneous adipose tissue is affected by or affect circulating lipids through epigenetic mechanisms. Hence, our aim was to investigate the association between circulating lipids and DNA methylation levels in human adipose tissue. Methods DNA methylation and gene expression were analyzed genome-wide in subcutaneous adipose tissue from two different cohorts, including 85 men and 93 women, respectively. Associations between DNA methylation and circulating levels of triglycerides, LDL, HDL and total cholesterol were analysed. Causal mediation analyses tested if adipose tissue DNA methylation mediates the effects of triglycerides on gene expression or insulin resistance. Results We found 115 novel associations between triglycerides and adipose tissue DNA methylation, e.g. in the promoter of RFS1, ARID2, and HOXA5 in the male cohort (p ≤ 1.1x10−7), and 63 associations e.g. within the gene body of PTPRN2 and COL6A3 in the female cohort. We further connected these findings to altered mRNA expression levels in adipose tissue (e.g. HOXA5, IL11 and FAM45B). Interestingly, there was no overlap between methylation sites associated with triglycerides in men and the sites found in women, which points towards sex-specific effects of triglycerides on the epigenome. Finally, a causal mediation analysis provided support for adipose tissue DNA methylation as a partial mediating factor between circulating triglycerides and insulin resistance. Conclusions This study identified novel epigenetic alterations in adipose tissue associated with circulating lipids. Identified epigenetic changes seem to mediate effects of triglycerides on insulin resistance.

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ANKS1A genotype predicts cardiovascular events in patients with familial hypercholesterolemia

Cited by 2 publications

References 34 publications

The risk of various types of cardiovascular diseases in mutation positive familial hypercholesterolemia; a review

The risk of various types of cardiovascular diseases in mutation positive familial hypercholesterolemia; a review

Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease

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