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Genetics and Epigenetics of Cardiometabolic Diseases
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Genetics and Epigenetics of Cardiometabolic Diseases

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: 20 May 2025 | Viewed by 5179

Special Issue Editor

Dr. Péter Pikó

E-Mail Website
Guest Editor
Department of Public Health and Epidemiology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary
Interests: molecular biology; lipidomic profile; genomics; metabolic syndrome; behaviours risk; physical activity
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Cardiometabolic diseases (CMDs) are currently the leading cause of death worldwide and therefore the most serious health challenge in both developing and developed countries. CMDs are the result of a combination of lifestyle/environmental and genetic factors that often lead to obesity and associated insulin resistance and hyperlipidaemia, type 2 diabetes, non-alcoholic fatty liver disease, and rare metabolic disorders, all of which increase the risk of cardiovascular disease, including myocardial infarction, stroke, and heart failure.

In recent decades, developments in bioinformatics and pharmacology have provided great insight into the genetic background of CMDs. Genome-wide association studies have improved our understanding of CMDs and identified polymorphisms (such as single-nucleotide polymorphisms) that contribute to their development. Pharmacogenetics has shown that individuals with different pharmacogenetics respond differently to the same drug.

The aim of this Special Issue of the International Journal of Molecular Sciences, titled "Genetics and Epigenetics of Cardiometabolic Diseases", is to summarise recent advances in genetics/epigenetics and related research into the underlying causes of cardiometabolic diseases and to identify important issues for the future. We welcome original research and reviews summarising recent advances in the screening, diagnosis, or treatment of cardiometabolic diseases with a genetic component.

Dr. Péter Pikó
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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.

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Keywords

  • obesity
  • insulin resistance
  • diabetes mellitus
  • cardiovascular diseases
  • metabolic syndrome
  • non-alcoholic fatty liver disease
  • dyslipidaemia
  • coronary artery disease
  • chronic kidney disease
  • hypertension

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Published Papers (3 papers)

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12 pages, 286 KiB  
Article
Genetic Background of Acute Heart Rate Response to Exercise
by Péter Pikó, Habib Al Ashkar, Nóra Kovács, Ilona Veres-Balajti and Róza Ádány
Int. J. Mol. Sci. 2024, 25(6), 3238; https://doi.org/10.3390/ijms25063238 - 13 Mar 2024
Cited by 2 | Viewed by 1857
Abstract
The acute heart rate response (AHRR) to physical activity, which refers to the change in heart rate during and after exercise, has been associated with cardiovascular and all-cause mortality. Previous studies have shown that AHRR is significantly determined by genetics in addition to [...] Read more.
The acute heart rate response (AHRR) to physical activity, which refers to the change in heart rate during and after exercise, has been associated with cardiovascular and all-cause mortality. Previous studies have shown that AHRR is significantly determined by genetics in addition to environmental and lifestyle factors. The aim of this study was to investigate the genetic background of AHRR by analysing ten single nucleotide polymorphisms (SNPs) associated with leisure-time physical activity (LTPA) in 620 samples from the Hungarian population. The AHRR can be characterised as the difference between post-exercise and resting heart rate, i.e., the delta heart rate (ΔHR) defined by the YMCA 3 min step test, with a lower value indicating better cardiovascular fitness. The association of SNPs with ΔHR was analysed both separately and in combination using an optimised polygenic score (oPGS). The results showed that five SNPs (rs10252228, rs459465, rs6022999, rs8097348, and rs12405556) had at least nominally significant (p < 0.05) individual associations with ΔHR. After optimizing the PGS, a cumulative effect was observed for eight SNPs (rs6022999, rs12405556, rs459465, rs10252228, rs8097348, rs10887741, rs12612420, and rs7023003) that had a strong and statistically significant association with ΔHR (B = −2.51, 95% CI: −3.46–−1.76; p = 2.99 × 10−9). Of the four main domains of physical activity, the oPGS showed a significant positive association only with LTPA (B = 84.60; 95%CI: 25.23–143.98; p = 0.005). In conclusion, our results suggest that the SNPs we investigated influence individual leisure-time physical activity, mediated by their effects on the acute heart rate response. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Cardiometabolic Diseases)
10 pages, 819 KiB  
Article
Exploring PCSK9 Genetic Impact on Lipoprotein(a) via Dual Approaches: Association and Mendelian Randomization
by Ya-Ching Chang, Lung-An Hsu and Yu-Lin Ko
Int. J. Mol. Sci. 2023, 24(19), 14668; https://doi.org/10.3390/ijms241914668 - 28 Sep 2023
Cited by 2 | Viewed by 2016
Abstract
Previous investigations have suggested an association between the PCSK9 common polymorphism E670G and Lipoprotein(a) (Lp(a)) levels, as well as a link between plasma PCSK9 levels and Lp(a) concentrations. However, the causal relationship between plasma PCSK9 and Lp(a) levels remains uncertain. In this study, [...] Read more.
Previous investigations have suggested an association between the PCSK9 common polymorphism E670G and Lipoprotein(a) (Lp(a)) levels, as well as a link between plasma PCSK9 levels and Lp(a) concentrations. However, the causal relationship between plasma PCSK9 and Lp(a) levels remains uncertain. In this study, we explored the association between PCSK9 E670G polymorphism and Lp(a) levels in 614 healthy Taiwanese individuals. Employing a two-sample Mendelian randomization (MR) analysis using openly accessible PCSK9 and Lp(a) summary statistics from the genome-wide association studies (GWAS) and UK Biobank, we aimed to determine if a causal link exists between plasma PCSK9 levels and Lp(a) concentrations. Our findings reveal that the E670G G allele is independently associated with a decreased likelihood of developing elevated Lp(a) levels. This association persists even after adjusting for common cardiovascular risk factors and irrespective of lipid profile variations. The MR analysis, utilizing six PCSK9 GWAS-associated variants as instrumental variables to predict plasma PCSK9 levels, provides compelling evidence of a causal relationship between plasma PCSK9 levels and Lp(a) concentration. In conclusion, our study not only replicates the association between the PCSK9 E670G polymorphism and Lp(a) levels but also confirms a causative relationship between PCSK9 levels and Lp(a) concentrations through MR analysis. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Cardiometabolic Diseases)
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Review

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17 pages, 4545 KiB  
Review
Determining the Risk of Type 2 Diabetes for rs1801133 Genotypes in Multiethnic Populations: A Global Meta-Epidemiological Study
by Fahrul Nurkolis, Nurlinah Amalia, Yosi Yohanes Putra Tandi, Ariq Fadhil Athallah, Muhammad Reva Aditya, Ammar Nojaid, Farizky Martriano Humardani, Achmad Fabiansyah Prapriatna, Nurpudji Astuti Taslim, Dante Saksono Harbuwono and Raymond Rubianto Tjandrawinata
Int. J. Mol. Sci. 2025, 26(9), 3987; https://doi.org/10.3390/ijms26093987 - 23 Apr 2025
Viewed by 289
Abstract
The rs1801133 (C677T) polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene has been linked to type 2 diabetes (T2D) risk. This study aimed to assess the association between rs1801133 genotypes (CC, CT, TT) and T2D across multiethnic populations and to identify genotype- and region-specific [...] Read more.
The rs1801133 (C677T) polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene has been linked to type 2 diabetes (T2D) risk. This study aimed to assess the association between rs1801133 genotypes (CC, CT, TT) and T2D across multiethnic populations and to identify genotype- and region-specific risks. A global meta-epidemiological analysis was conducted using data from 19 studies comprising 6479 participants from Asia, Africa, Europe, and America. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated using random-effects models. Subgroup analyses by region were also performed. The results of the CC vs. CT dominant genetic model were OR 95% CI = 0.63 (0.46–0.87); p = 0.005; the CC vs. TT genetic recessive model yielded OR 95% CI = 0.59 (0.38–0.91); p = 0.02; and the CT vs. TT codominance genetic model yielded OR 95% CI = 0.95 (0.65–1.37); p = 0.78. Based on the subgroup analysis, the CC genotype is predominantly associated with an increased risk of T2D in both Africa and Europe. From this study, the CC genotype was proven to be highly contributory to T2D risk compared to the CT and TT genotypes. These findings highlight the need for ethnicity-informed genetic screening and targeted prevention strategies in global diabetes management. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Cardiometabolic Diseases)
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