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10th Anniversary of Biomedicines—Genetics of Cholesterol in Cardiovascular Disease: From...
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10th Anniversary of Biomedicines—Genetics of Cholesterol in Cardiovascular Disease: From Basics to Clinics

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: closed (15 November 2022) | Viewed by 9980

Special Issue Editor

Dr. Jesus M. Martin-Campos

E-Mail Website
Guest Editor
Santa Creu i Sant Pau Hospital Research Institute– IIB-Sant Pau, Barcelona, Spain
Interests: genetic determinants of cerebrovascular disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear colleagues,

Since the discovery in the 1960s of the role of cholesterol in the risk of developing arteriosclerotic cardiovascular disease, great efforts have been devoted to identifying the genes involved in cholesterol metabolism. The main objective was to identify cholesterol metabolic pathways and possible therapeutic targets. Step by step, from specific studies to verify the role of candidate genes to the development of high-throughput techniques that do not depend on prior knowledge, science has partially unraveled the genetic architecture of cholesterol. Likewise, the identification of genetic variability associated with plasma cholesterol levels has made it possible to design genetic tests to detect cardiovascular risk associated with different genotypes. These discoveries have allowed the development of effective drugs to reduce cardiovascular risk by targeting the synthesis (statins), intestinal absorption (ezetimibe), and cellular uptake (PCSK9 inhibitors) of cholesterol. Furthermore, more than 50 loci with common genetic variants have been identified, which may explain the less severe but more common forms of hypercholesterolemia, as well as the variability in cholesterol levels underlying populations.

In this Special Issue, we aim to collect recent advances in cholesterol genetics, especially those related to the development of cardiovascular disease and their possible translation into clinical practice. The objectives include the identification of new genes, new therapeutic targets, gene–gene and gene–environment interactions, etc.

Dr. Jesus M. Martin-Campos
Guest Editor

Manuscript Submission Information

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Keywords

  • cholesterol
  • hypercholesterolemia
  • genetic diagnosis
  • ischemic heart disease
  • ischemic stroke
  • peripheral vascular disease
  • epigenetic modifications
  • genome-wide association studies
  • gene interactions

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Related Special Issue

Published Papers (4 papers)

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Research

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9 pages, 1887 KiB  
Article
Independent Effects of Kidney Function and Cholesterol Efflux on Cardiovascular Mortality
by Andreas Ritsch, Monika Hunjadi, Tatjana Stojakovic, Jürgen E. Scherberich, Günther Silbernagel, Hubert Scharnagl, Graciela E. Delgado, Marcus E. Kleber and Winfried März
Biomedicines 2022, 10(8), 1832; https://doi.org/10.3390/biomedicines10081832 - 29 Jul 2022
Viewed by 1671
Abstract
Background: Impaired renal function is associated with cardiovascular and all-cause mortality. In the general population, HDL-cholesterol is associated with cardiovascular events, which is not true in patients with chronic kidney disease (CKD). This has been attributed to abnormal HDL function in CKD. Methods: [...] Read more.
Background: Impaired renal function is associated with cardiovascular and all-cause mortality. In the general population, HDL-cholesterol is associated with cardiovascular events, which is not true in patients with chronic kidney disease (CKD). This has been attributed to abnormal HDL function in CKD. Methods: In this study, we analyzed the association of genetic markers for kidney function with cholesterol efflux capacity as one of the major HDL functions, as well as with cardiovascular mortality, in 2469 patients of the Ludwigshafen Risk and Cardiovascular Health Study who all underwent coronary angiography. Results: A genetic score of 53 SNPs associated with GRF and the uromodulin SNP rs12917707 were inversely correlated with cholesterol efflux capacity. This was in line with the observed association between cholesterol efflux capacity and kidney function in these patients. Adjustment for eGFR and uromodulin as markers of kidney function did not affect the relationship between cholesterol efflux and cardiovascular mortality. Conclusions: Our data propose the view that cholesterol efflux and kidney function are exerting their effects on cardiovascular mortality via different and independent pathways. Decreased cholesterol efflux may therefore not mediate the effects of impaired kidney function on cardiovascular mortality. Full article
(This article belongs to the Special Issue 10th Anniversary of Biomedicines—Genetics of Cholesterol in Cardiovascular Disease: From Basics to Clinics)
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11 pages, 3596 KiB  
Article
Dyslipidaemia—Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease
by Sung-Bum Lee, Ja-Eun Choi, Byoungjin Park, Mi-Yeon Cha, Kyung-Won Hong and Dong-Hyuk Jung
Biomedicines 2022, 10(7), 1615; https://doi.org/10.3390/biomedicines10071615 - 6 Jul 2022
Cited by 6 | Viewed by 2057
Abstract
A comprehensive understanding of gene-diet interactions is necessary to establish proper dietary guidelines to prevent and manage cardio-cerebrovascular disease (CCD). We investigated the role of genetic variants associated with dyslipidaemia (DL) and their interactions with macro-nutrients for cardiovascular disease using a large-scale genome-wide [...] Read more.
A comprehensive understanding of gene-diet interactions is necessary to establish proper dietary guidelines to prevent and manage cardio-cerebrovascular disease (CCD). We investigated the role of genetic variants associated with dyslipidaemia (DL) and their interactions with macro-nutrients for cardiovascular disease using a large-scale genome-wide association study of Korean adults. A total of 58,701 participants from a Korean genome and epidemiology study were included. Their dietary intake was assessed using a food frequency questionnaire. Dyslipidaemia was defined as total cholesterol (TCHL) ≥ 240 mg/dL, high-density lipoprotein (HDL) < 40 mg/dL, low-density lipoprotein (LDL) ≥ 160 mg/dL, triglycerides (TG) ≥ 200 mg/dL, or dyslipidaemia history. Their nutrient intake was classified as follows: protein intake: high ≥ 30%, 30% > moderate ≥ 20%, and 20% > low in daily total energy intake (TEI); carbohydrate intake: high ≥ 60%, 60% > moderate ≥ 50%, and 50% > low; fat intake: high ≥ 40%, 40% > moderate ≥ 30%, and 30% > low. Odds ratios and 95% confidence intervals were calculated after adjusting for age; sex; body mass index (BMI); exercise status; smoking status; alcohol intake; principal component 1 (PC1); principal component 2 (PC2); and intake of carbohydrates, fats, and proteins. This analysis included 20,596 patients with dyslipidaemia and 1027 CCD patients. We found that rs2070895 related to LIPC was associated with HDL-cholesterol. Patients with the minor allele (A) in rs2070895 had a lower risk of CCD than those carrying the reference allele (G) (odds ratio [OR] = 0.8956, p-value = 1.78 × 10−2). Furthermore, individuals consuming protein below 20% TEI with the LIPC reference allele had a higher risk of CCD than those with the minor allele (interaction p-value 6.12 × 10−3). Our findings suggest that the interactions of specific polymorphisms associated with dyslipidaemia and nutrients intake can influence CCD. Full article
(This article belongs to the Special Issue 10th Anniversary of Biomedicines—Genetics of Cholesterol in Cardiovascular Disease: From Basics to Clinics)
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Review

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18 pages, 1940 KiB  
Review
Management of Familial Hypercholesterolemia with Special Emphasis on Evinacumab
by Julia Krzemińska, Ewelina Młynarska, Ewa Radzioch, Magdalena Wronka, Jacek Rysz and Beata Franczyk
Biomedicines 2022, 10(12), 3273; https://doi.org/10.3390/biomedicines10123273 - 16 Dec 2022
Cited by 2 | Viewed by 2704
Abstract
Familial hypercholesterolemia (FH) is an underdiagnosed disease that contributes to a significant number of cardiovascular incidents through high serum Low-Density Lipoprotein Cholesterol (LDL-C) values. Its treatment primarily requires healthy lifestyle and therapy based on statins, ezetimibe and Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9); [...] Read more.
Familial hypercholesterolemia (FH) is an underdiagnosed disease that contributes to a significant number of cardiovascular incidents through high serum Low-Density Lipoprotein Cholesterol (LDL-C) values. Its treatment primarily requires healthy lifestyle and therapy based on statins, ezetimibe and Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9); however, there are also new treatment options that can be used in patients who do not respond to therapy, among which we highlight evinacumab. Elevated LDL-C values, together with clinical manifestations associated with cholesterol deposition (e.g., tendon xanthomas, xanthelasma and arcus cornealis) and family history are the main elements in the diagnosis of FH. Pathognomonic signs of FH include extensor tendon xanthomas; however, their absence does not exclude the diagnosis. Elevated LDL-C levels lead to premature Atherosclerotic Cardiovascular Disease (ASCVD), which is why early diagnosis and treatment of FH is essential. Evinacumab, a novelty in pharmacological practice, having a complex mechanism of action, causes desirable changes in lipid parameters in patients with homozygous form of familial hypercholesterolemia (HoFH). This review collects and summarizes the most important aspects of the new drug, especially being a discovery in the treatment of HoFH, giving these patients hope for a longer and more comfortable life. Full article
(This article belongs to the Special Issue 10th Anniversary of Biomedicines—Genetics of Cholesterol in Cardiovascular Disease: From Basics to Clinics)
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33 pages, 472 KiB  
Review
Genetics of Cholesterol-Related Genes in Metabolic Syndrome: A Review of Current Evidence
by Sok Kuan Wong, Fitri Fareez Ramli, Adli Ali and Nurul ‘Izzah Ibrahim
Biomedicines 2022, 10(12), 3239; https://doi.org/10.3390/biomedicines10123239 - 13 Dec 2022
Cited by 12 | Viewed by 2775
Abstract
Metabolic syndrome (MetS) refers to a cluster of metabolic dysregulations, which include insulin resistance, obesity, atherogenic dyslipidemia and hypertension. The complex pathogenesis of MetS encompasses the interplay between environmental and genetic factors. Environmental factors such as excessive nutrients and sedentary lifestyle are modifiable [...] Read more.
Metabolic syndrome (MetS) refers to a cluster of metabolic dysregulations, which include insulin resistance, obesity, atherogenic dyslipidemia and hypertension. The complex pathogenesis of MetS encompasses the interplay between environmental and genetic factors. Environmental factors such as excessive nutrients and sedentary lifestyle are modifiable and could be improved by lifestyle modification. However, genetic susceptibility to MetS, a non-modifiable factor, has attracted the attention of researchers, which could act as the basis for future diagnosis, prognosis, and therapy for MetS. Several cholesterol-related genes associated with each characteristic of MetS have been identified, such as apolipoprotein, lipoprotein lipase (LPL), cholesteryl ester transfer protein (CETP) and adiponectin. This review aims to summarize the genetic information of cholesterol-related genes in MetS, which may potentially serve as biomarkers for early prevention and management of MetS. Full article
(This article belongs to the Special Issue 10th Anniversary of Biomedicines—Genetics of Cholesterol in Cardiovascular Disease: From Basics to Clinics)
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