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  • Written by: Nada Ahmed

  • Medically reviewed by: Lara Zakaria PharmD, CNS, IFMCP

While lifestyle choices like diet and exercise significantly influence disease development, genetic predispositions also play a major role in determining an individual’s susceptibility to various conditions, including cardiometabolic diseases. (Pitsavos 2006) The heritability of each metabolic syndrome (MetS) trait exceeds 50%. (Abou Ziki 2016) Genetic studies have identified several mutations associated with MetS-specific traits. (Abou Ziki 2016) The most prevalent type of genetic polymorphism is single-nucleotide polymorphisms (SNPs), where the nucleotide sequence at a particular position is changed, inserted, or deleted. (Flordellis 2004) The genetic factors contributing to MetS involve complex interactions between multiple genes and environmental influences. (Ordovas 2008)

Although genetic predispositions and the interaction between genes and the environment are non-modifiable risk factors, identifying them can be valuable for risk assessment and preventative strategies to reduce the likelihood of disease.

Types of genetic tests available

There are numerous genetic tests available depending on the purpose of the test. These range from single-variant tests that look for a specific variant in one gene (e.g., a particular variant in the HBB gene responsible for sickle cell disease) to whole genome sequencing, which analyzes the entirety of an individual's DNA to identify genetic variations. (Medline 2021)

Genetic risk assessments that evaluate predisposition to common complex diseases, such as cardiovascular disease, diabetes, or obesity, typically use gene panels that search for variants in more than one gene. (Medline 2021) The genes that are included in these panels are genes that have been identified in research through whole-genome sequencing and are associated with an increased risk of disease. (Krasi 2019) It’s important to highlight that relying on a single genetic marker for cardiovascular or metabolic disease assessment may be misleading because these conditions are multifactorial, influenced by the interplay of numerous genes and their interactions with environmental factors.

A comprehensive genetic panel offers a more holistic view, assessing multiple markers that contribute to disease risk, which provides a clearer picture of an individual's predisposition. This approach allows for a more accurate and personalized risk assessment, enhancing the effectiveness of preventive and therapeutic strategies.

Key genes implicated in cardiometabolic disease

Genetic research has significantly advanced our understanding of cardiometabolic diseases by identifying numerous genes associated with their pathophysiology. Cardiometabolic risk is linked to an interplay of various diagnostic elements including blood sugar sensitivity, dyslipidemia, blood pressure, and body composition. Therefore, the genes highlighted here influence a range of risk factors, including blood lipid levels, insulin sensitivity, and blood pressure regulation to help offer a whole person care approach to risk assessment. Though this article is not intended to be a comprehensive resource, the genes included seem to have more significant research and clinical applicability at this time.

Genetic testing can determine if an individual carries genetic variations that increase their susceptibility to cardiovascular disease risk factors, such as diabetes, hypertension, and obesity.

Genes involved in lipid metabolism

Polymorphisms in numerous genes involved in lipid metabolism including LPL, APOA5, APOE, BUD13, ZPR1, CETP and SORT1 can negatively affect lipid levels. Alterations to these genes have been associated with increased cardiometabolic risk and play different roles in lipid metabolism.

Genes that affect low-density lipoprotein

Variations in apolipoprotein genes, which code for the protein component of lipoproteins, have been shown to influence low-density lipoprotein (LDL) levels and are linked to increased cardiovascular risks. SNPs in APOE—notably the ε3 and ε4 alleles—are associated with increased LDL levels and a higher incidence of atherosclerosis and acute coronary syndrome. (Marais 2019) (Varghese 2024) Alterations in the SORT1 gene have also been associated with increased cardiovascular risk, as it’s involved in LDL clearance from the blood. SNPs in SORT1 are linked with increased cholesterol levels and increased risk of coronary artery disease. (Møller 2021) (Patel 2015) (Samani 2007) (Teslovich 2010)

Genes that affect triglycerides

The LPL gene is critical for the breakdown of triglycerides found in circulating lipoproteins. Changes or dysfunction in LPL can result in higher triglyceride levels, which may increase the risk of MetS. (Dron 2020) Additionally, SNPs in APOA5 are associated with increased triglyceride levels and can therefore increase cardiovascular risk. (Hechmi 2020) (Nadkarni 2018) (Pennacchio 2001)

Genes that affect multiple lipid parameters

Genetic variations in BUD13, ZPR1, and APOA5 have also been implicated in MetS and are strongly associated with increased triglyceride levels and decreased high-density lipoprotein (HDL). (Masjoudi 2021) (Zhang 2017) Similarly, alterations in CETP are associated with MetS as it’s involved in the transfer of cholesterol esters and phospholipids from HDL to LDL and very-low-density lipoprotein (VLDL), and variations in this gene can therefore have a significant impact on lipid balance. (Cahua-Pablo 2015) (Hatakeyama 2016)

Genes involved in glucose metabolism

Numerous genes are involved in every step of glucose metabolism, and alterations to these genes can affect glucose regulation. For instance, SNPs to TCF7L2, GCK and IRS1 can affect glucose homeostasis and are associated with increased risk of cardiometabolic disease. GCK plays a crucial role in the first step of glucose metabolism and functions as a glucose sensor for the production of insulin. (Ashcroft 2023) Alterations to this gene affect glucose regulation and have been linked with metabolic disorders and maturity-onset diabetes of the young (MODY), which is an early-onset diabetes (<35 years old) that’s not associated with obesity. (Aleem 2018) (Naylor 2018) SNPs to TCF7L2 increase risk of type 2 diabetes (T2D) by impairing beta cell function and reducing insulin sensitivity. (Grant 2019) (TCF7L2 n.d) Furthermore, research has linked genetic variants of the IRS1 gene to insulin resistance and elevated insulin levels. (Qi 2011)

Genes involved in obesity

Genes such as FTO, MC4R, and ADIPOQ have been implicated in the development of obesity.

FTO is a regulatory gene that plays a role in appetite regulation and resting energy expenditure (Yang 2022) FTO SNPs have been associated with obesity, an increased risk of T2D, and myocardial infarction. (Doney 2009) (Frayling 2007) (Saxena 2007) Similarly, SNPs in MC4R, which is a gene that plays a key role in regulating body weight, has been found to be linked to obesity. (Vrablik 2021) SNPs to the ADIPOQ gene, which codes for the synthesis of adiponectin, is associated with an increased risk of T2D, obesity, and hypoadiponectinemia. Adiponectin is a hormone produced by adipocytes and results in fat burning and glucose utilization. (Ramya 2013) Lower levels of adiponectin are associated with increased body mass index (BMI) and therefore increase risk factors for cardiometabolic disease. (Gariballa 2019)

Other related genes

This section discusses genes that are related to other cardiovascular risk factors, including hypertension, smoking, and cardiovascular event risk.

Hypertension

Polymorphism to several blood pressure-related genes can increase the risk for hypertension. For example, UMOD, a gene that’s involved in kidney function by regulating sodium uptake, is a key factor in blood pressure regulation. (NIH n.d) Research shows that SNPs to UMOD are associated with an increased risk of hypertension. (Lip 2020) Similarly, insertions or deletions to the ACE genes, which are involved in the regulation of blood pressure through the renin-angiotensin-aldosterone system (RAAS), are associated with increased risk for hypertension. (Krishnan 2016)

Smoking addiction

SNPs to the genetic locus CHRNA5-CHRNA3-CHRNB4 (CHRNA5-A3-B4) are associated with an increased risk for smoking addiction. (Saccone 2009) These genes encode the subunits of a nicotinic acetylcholine receptors, which are key mediators for nicotine's effects on the central nervous system (CNS). (Lassi 2016) (Wimmer 2009) Genetic variations in this cluster can increase the sensitivity of the receptors to nicotine, enhancing the pleasurable effects of smoking and making it more addictive. This can lead to a stronger craving for nicotine and an increased likelihood of continued smoking.

Cardiovascular events

ANRIL is a regulatory gene that influences the activity of numerous cellular processes including cell proliferation, senescence, apoptosis, extracellular matrix remodeling, and inflammation. (Congrains 2012) SNPs to the ANRIL gene are associated with an increased risk of cardiovascular events, including myocardial infarction by approximately 30–35%. (Razeghian-Jahromi 2022) (Vrablik 2021) This effect is relatively consistent across various populations and ethnic groups. (Vrablik 2021)

Genetic testing can help determine whether individuals with a family history of cardiometabolic conditions have inherited genetic variants associated with an increased risk. 

How genetic testing can help in assessing risk early

Genetic testing can play a crucial role in assessing cardiometabolic risk early by identifying genetic predispositions to conditions that affect cardiovascular health and metabolism. By looking for specific genetic variants associated with an increased risk of cardiometabolic disorders, individuals with a family history of cardiometabolic diseases can determine if they have inherited the driving variants and are therefore at higher risk. (Vrablik 2021)

Genetic testing can help identify individuals at higher risk before symptoms or conditions develop. This early detection allows for timely monitoring and intervention, potentially preventing the onset of serious cardiometabolic issues. Understanding genetic predispositions can help healthcare providers develop more effective and individualized treatment plans. Overall, genetic testing enhances the ability to predict and manage cardiometabolic risks, leading to more personalized and proactive healthcare. This knowledge enhances our ability to predict, prevent, and potentially treat these complex diseases more effectively.

How genetic testing is performed

Though blood samples may be used, many companies  use non-invasive techniques for obtaining DNA samples. These companies use salivary samples that are self-collected using a sterile swab provided as part of an at-home test kit. A 60-second thorough rub on the inside of each cheek is all that’s required for genetic analysis. This makes testing convenient, non-invasive, and accessible, without sacrificing reliability.

Clinical implications of genetic test results

Genetic test results can be used to help enhance risk prediction. Although individual SNPs have a relatively small impact on disease risk, the presence of multiple high-risk alleles is associated with increased risk. (Vrablik 2021) Individual SNPs tend to have only a minor effect on biochemical or anthropometric parameters.

By analyzing a combination of genetic variants associated with cardiometabolic conditions, alongside their lifestyle factors, healthcare providers can obtain a more accurate assessment of genetic risk to guide clinical decisions.

Potential challenges and limitations

Genetic testing does raise several potential challenges and limitations. First, genetic testing poses ethical and privacy concerns, as genetic information is sensitive and requires careful handling to avoid misuse or discrimination. Therefore, careful vetting of the company or tools used should be considered in the decision process when weighing testing options.

Additionally, genetic testing is of limited predictive value, as it can identify susceptibility but cannot predict with certainty whether an individual will develop a disease due to the complex interplay of genetics, environment, and lifestyle.

High-quality genetic tests can also be expensive, and access may be limited for some individuals or populations, potentially further contributing to disparities in health care.

It’s important to note that for patients, learning about their genetic risk can cause anxiety or distress, particularly if the information is not accompanied by supportive counseling or clear next steps. Clinicians choosing to offer genetic testing or interpretation to patients ideally would provide interpretations with a balanced, non-threatening approach reminding patients of the limitations

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About the contributors

Nada Ahmed, ND

Medical Writer

Dr. Nada Ahmed, ND earned her Doctor of Naturopathy at the Canadian College of Naturopathic Medicine. Prior to that, she completed the Psychology, Neuroscience & Behaviour program at McMaster University, where she earned her Bachelor of Science. It was through her undergraduate study that she developed a deep appreciation for the many factors that shape our overall health, and decided to pursue her career in naturopathic medicine. She is currently a member of the Canadian Association of Naturopathic Doctors and the Ontario Association of Naturopathic Doctors. She is very passionate about optimizing health and bridging traditional natural remedies with modern scientific evidence. She also has a special interest in metabolic health, women’s health and geriatric health.

Lara Zakaria , PharmD, MS, CDN, CNS, IFMCP

Fullscript Medical Advisor

Dr. Lara Zakaria is a Pharmacist, Nutritionist, and professor specializing in Functional Medicine and Personalized Nutrition. In addition to running a clinical practice focused on providing patients with sustainable solutions that address chronic disease, she also spends her time teaching and mentoring clinicians interested in implementing nutrition and food as medicine principles into practice.

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