Genetics of the cardiometabolic syndrome: new insights and therapeutic implications
Silvia Sookoian1, Carlos J Pirola
1Departamento de Sustancias Vasoactivas y Cardiología Molecular, Instituto de Investigaciones A Lanari, Universidad de Buenos Aires-CONICET, Ciudad Autónoma de Buenos Aires, Argentina.
Insights
Cardiometabolic syndrome (CMS) involves complex diseases like type 2 diabetes and hypertension. Genetic research identifies common variants and chromosomal regions linked to CMS, suggesting new drug targets for treatment.
Area of Science:
- Genetics
- Metabolic Diseases
- Pharmacology
Background:
- Cardiometabolic syndrome (CMS) is a complex condition encompassing type 2 diabetes, dyslipidemia, obesity, hypertension, and other related disorders.
- The genetic basis of CMS components ranges from rare monogenic forms to common polygenic and multifactorial inheritance patterns.
- Existing research highlights the association of common genetic variants and chromosomal regions with CMS development.
Purpose of the Study:
- To explore the genetic underpinnings of cardiometabolic syndrome (CMS).
- To identify potential genetic loci and candidate genes contributing to CMS development.
- To investigate novel pharmacological treatment avenues for CMS based on genetic insights.
Main Methods:
- Candidate-gene association studies in human populations.
- Genome-wide scans to identify associated chromosomal regions.
- Comparative genomics utilizing animal models.
- Bioinformatic tools for gene prioritization.
- Analysis of gene-drug target overlap.
Main Results:
- Common genetic variants in several genes are associated with CMS development.
- Specific chromosomal regions have been linked to components of CMS.
- Comparative genomics and bioinformatic approaches aid in mapping candidate loci.
- Genes targeted by existing drugs (e.g., SLC6A4, PPARalpha, PPARgamma) are implicated in CMS.
Conclusions:
- The genetic architecture of CMS is complex, involving multiple genes and inheritance patterns.
- Genetic research, including comparative genomics and bioinformatics, is crucial for understanding CMS etiology.
- Implicated genes targeted by approved drugs offer promising avenues for future pharmacological interventions in CMS treatment.
Abstract:
Although the definition of the phenotype is imprecise, cardiometabolic syndrome (CMS) includes a constellation of complex diseases such as type 2 diabetes, dislipidemias, central obesity and hypertension, proinflammatory and prothrombotic states, ovarian polycystosis and fatty liver. The genetics of each disease is complex in itself and varies in spectrum from monogenic and syndromic models of inheritance, usually rare, to the most common polygenic and multifactorial forms. In addition, human studies using the candidate-gene approach indicate that common genetic variants of several genes are associated with the development of CMS. Genome-wide scans have also provided several chromosomal regions associated with some of the components of CMS. In addition, through comparative genomics animal models can generate a map for candidate loci in humans and a promising approach is offered by bioinformatic tools for gene prioritization. Lastly, the involvement of genes whose products are already the targets for approved drugs, such as SLC6A4, PPARalpha and PPARgamma , in the development of CMS suggests new avenues for CMS pharmacological treatment.
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