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Genetics of Lipids and Cardiovascular Disease
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Genetics of Lipids and Cardiovascular Disease

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (15 November 2022) | Viewed by 10318

Special Issue Editors

Dr. Manuel Hermida-Prieto

E-Mail Website
Guest Editor
Grupo de Investigación en Cardiología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC-SERGAS), GRINCAR-Universidade da Coruña (UDC), 15006 A Coruña, Spain
Interests: genetics; myocardiopathies; myocardial infarction; sudden death; microRNA; biomarkers
Special Issues, Collections and Topics in MDPI journals
Dr. Lucía Núñez

E-Mail Website
Guest Editor
Departamento de Ciencias de la Salud, GRINCAR Research Group, Universidade da Coruña, 15403 A Coruña, Spain
Interests: genes; sudden death; electrophysiology; myocardial infarction
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Cardiovascular diseases (CVDs) are the leading cause of mortality worldwide. One of the most important factors for CVD is lipid plasma concentration. In the last decade, lipid genetic studies have shown a wide range of influence in CVD: from monogenic hereditary dyslipidemias to multifactor genes. One the most important advances in lipidology was the description of low-density lipoprotein (LDL) receptor mutations and their association to familial hypercholesterolemias. However, over 250 genetic loci have been identified as potentially related to CVD—mainly in atherosclerosis, but lipid genetics may have a role in other cardiac pathologies such as atrial fibrillation and heart failure.

Multiple mechanisms have been suggested, including genes regulating arterial wall susceptibility to infiltration, transcytosis, retention, modification of LDL and genes acting outside this core mechanism pathway. Understanding the genetic landscape and regulation of lipids is mandatory in order to develop new strategies for prevention and treatment.

In this Special Issue we aim to collect high-quality research papers and updated reviews on various aspects of lipid genetics and CVD.

Dr. Manuel Hermida-Prieto
Dr. Lucía Núñez
Guest Editors

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • GWAS
  • mutation
  • DNA sequencing
  • atherosclerosis
  • LDL
  • familial hypercholesterolemia
  • endothelium
  • heart failure
  • arrythmias
  • lipids
  • fatty acids
  • HDL
  • polygenic lipid disorders
  • genetic risk score
  • variant of lipoprotein metabolism
  • dyslipidemia

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Published Papers (4 papers)

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Research

19 pages, 1786 KiB  
Article
Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction
by Ricardo Pan-Lizcano, Luis Mariñas-Pardo, Lucía Núñez, Fernando Rebollal-Leal, Domingo López-Vázquez, Ana Pereira, Aranzazu Molina-Nieto, Ramón Calviño, Jose Manuel Vázquez-Rodríguez and Manuel Hermida-Prieto
Int. J. Mol. Sci. 2022, 23(24), 16127; https://doi.org/10.3390/ijms232416127 - 17 Dec 2022
Cited by 2 | Viewed by 2064
Abstract
Acute myocardial infarction (AMI) is a pandemic in which conventional risk factors are inadequate to detect who is at risk early in the asymptomatic stage. Although gene variants in genes related to cholesterol, which may increase the risk of AMI, have been identified, [...] Read more.
Acute myocardial infarction (AMI) is a pandemic in which conventional risk factors are inadequate to detect who is at risk early in the asymptomatic stage. Although gene variants in genes related to cholesterol, which may increase the risk of AMI, have been identified, no studies have systematically screened the genes involved in this pathway. In this study, we included 105 patients diagnosed with AMI with an elevation of the ST segment (STEMI) and treated with primary percutaneous coronary intervention (PPCI). Using next-generation sequencing, we examined the presence of rare variants in 40 genes proposed to be involved in lipid metabolism and we found that 60% of AMI patients had a rare variant in the genes involved in the cholesterol pathway. Our data show the importance of considering the wide scope of the cholesterol pathway in order to assess the genetic risk related to AMI. Full article
(This article belongs to the Special Issue Genetics of Lipids and Cardiovascular Disease)
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25 pages, 383 KiB  
Article
Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing
by Aimi Zafira Razman, Yung-An Chua, Noor Alicezah Mohd Kasim, Alyaa Al-Khateeb, Siti Hamimah Sheikh Abdul Kadir, Siti Azma Jusoh and Hapizah Nawawi
Int. J. Mol. Sci. 2022, 23(23), 14971; https://doi.org/10.3390/ijms232314971 - 29 Nov 2022
Cited by 4 | Viewed by 2410
Abstract
Familial hypercholesterolaemia (FH) is caused by mutations in lipid metabolism genes, predominantly in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin-type 9 (PCSK9) and LDL receptor adaptor protein 1 (LDLRAP1). The prevalence of genetically confirmed FH and the detection rate of [...] Read more.
Familial hypercholesterolaemia (FH) is caused by mutations in lipid metabolism genes, predominantly in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin-type 9 (PCSK9) and LDL receptor adaptor protein 1 (LDLRAP1). The prevalence of genetically confirmed FH and the detection rate of pathogenic variants (PV) amongst clinically diagnosed patients is not well established. Targeted next-generation sequencing of LDLR, APOB, PCSK9 and LDLRAP1 was performed on 372 clinically diagnosed Malaysian FH subjects. Out of 361 variants identified, 40 of them were PV (18 = LDLR, 15 = APOB, 5 = PCSK9 and 2 = LDLRAP1). The majority of the PV were LDLR and APOB, where the frequency of both PV were almost similar. About 39% of clinically diagnosed FH have PV in PCSK9 alone and two novel variants of PCSK9 were identified in this study, which have not been described in Malaysia and globally. The prevalence of genetically confirmed potential FH in the community was 1:427, with a detection rate of PV at 0.2% (12/5130). About one-fourth of clinically diagnosed FH in the Malaysian community can be genetically confirmed. The detection rate of genetic confirmation is similar between potential and possible FH groups, suggesting a need for genetic confirmation in index cases from both groups. Clinical and genetic confirmation of FH index cases in the community may enhance the early detection of affected family members through family cascade screening. Full article
(This article belongs to the Special Issue Genetics of Lipids and Cardiovascular Disease)
16 pages, 1048 KiB  
Article
Association of Common Variants in OLA1 Gene with Preclinical Atherosclerosis
by Ting-Fong Lin, Chao-Liang Chou, Chu-Jui Hsieh, Yih-Jer Wu, Yi-Cheng Chen, Tzu-Wei Wu, Shu-Xin Lu, Yue-Li Juang and Li-Yu Wang
Int. J. Mol. Sci. 2022, 23(19), 11511; https://doi.org/10.3390/ijms231911511 - 29 Sep 2022
Cited by 2 | Viewed by 1873
Abstract
Reactive oxygen species impair the blood vessels, leading to the initiation of atherosclerosis, and migration and proliferation of vascular smooth muscle cells and neovascularization by endothelial cells of vasa vasorum are essential for atherosclerosis development. Obg-like ATPase 1 (OLA1), a negative regulator in [...] Read more.
Reactive oxygen species impair the blood vessels, leading to the initiation of atherosclerosis, and migration and proliferation of vascular smooth muscle cells and neovascularization by endothelial cells of vasa vasorum are essential for atherosclerosis development. Obg-like ATPase 1 (OLA1), a negative regulator in cellular responses to oxidative stress, binds to breast cancer susceptibility gene 1 (BRCA1), which protects vascular endothelial and smooth muscle cells against reactive oxygen species. However, it is not known whether OLA1 is genetically correlated with atherosclerosis. Here, we conducted two independent population-based case–control studies to explore the effects of variants in OLA1 genes on preclinical atherosclerosis. A total of 564 and 746 subjects who had thicker and normal carotid intima–media thickness (cIMT), respectively, were enrolled. Among 55 screened SNPs, rs35145102, rs201641962, rs12466587, rs4131583, and rs16862482 in OLA1 showed significant associations with cIMT. SNP rs35145102 is a 3′-utr variant and correlates with the differential expression of OLA1 in immune cells. These five genetic markers form a single closely linked block and H1-ATTGT and H2-GCCTC were the top two most prevalent 5-locus haplotypes. The H1 + H1 genotype negatively and H1 + H2 genotype positively correlated with thicker cIMT. The five identified SNPs in the OLA1 gene showed significant correlations with cIMT. Furthermore, we found that OLA1 was required for migration and proliferation of human aortic endothelial and smooth muscle cells and regulated vascular tube formation by human aortic endothelial cells. Therefore, these genetic variants in the OLA1 gene may serve as markers for risk prediction of atherosclerotic diseases. Full article
(This article belongs to the Special Issue Genetics of Lipids and Cardiovascular Disease)
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19 pages, 1599 KiB  
Article
APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia
by Yara Abou Khalil, Oriane Marmontel, Jean Ferrières, François Paillard, Cécile Yelnik, Valérie Carreau, Sybil Charrière, Eric Bruckert, Antonio Gallo, Philippe Giral, Anne Philippi, Olivier Bluteau, Catherine Boileau, Marianne Abifadel, Mathilde Di-Filippo, Alain Carrié, Jean-Pierre Rabès and Mathilde Varret
Int. J. Mol. Sci. 2022, 23(10), 5792; https://doi.org/10.3390/ijms23105792 - 21 May 2022
Cited by 8 | Viewed by 3084
Abstract
Primary hypercholesterolemia is characterized by elevated LDL-cholesterol (LDL-C) levels isolated in autosomal dominant hypercholesterolemia (ADH) or associated with elevated triglyceride levels in familial combined hyperlipidemia (FCHL). Rare APOE variants are known in ADH and FCHL. We explored the APOE molecular spectrum in a [...] Read more.
Primary hypercholesterolemia is characterized by elevated LDL-cholesterol (LDL-C) levels isolated in autosomal dominant hypercholesterolemia (ADH) or associated with elevated triglyceride levels in familial combined hyperlipidemia (FCHL). Rare APOE variants are known in ADH and FCHL. We explored the APOE molecular spectrum in a French ADH/FCHL cohort of 5743 unrelated probands. The sequencing of LDLR, PCSK9, APOB, and APOE revealed 76 carriers of a rare APOE variant, with no mutation in LDLR, PCSK9, or APOB. Among the 31 APOE variants identified here, 15 are described in ADH, 10 in FCHL, and 6 in both probands. Five were previously reported with dyslipidemia and 26 are novel, including 12 missense, 5 synonymous, 2 intronic, and 7 variants in regulatory regions. Sixteen variants were predicted as pathogenic or likely pathogenic, and their carriers had significantly lower polygenic risk scores (wPRS) than carriers of predicted benign variants. We observed no correlation between LDL-C levels and wPRS, suggesting a major effect of APOE variants. Carriers of p.Leu167del were associated with a severe phenotype. The analysis of 11 probands suggests that carriers of an APOE variant respond better to statins than carriers of a LDLR mutation. Altogether, we show that the APOE variants account for a significant contribution to ADH and FCHL. Full article
(This article belongs to the Special Issue Genetics of Lipids and Cardiovascular Disease)
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