International Journal of Molecular Medical Science, 2024, Vol.14, No.1, 69-79 http://medscipublisher.com/index.php/ijmms 72 Table 1 Selected examples of monogenic cardiovascular diseases (Vrablík et al., 2021) Gene(s) CVD Manifestation LDLR, APOB, PCSK9 Familial hypercholesterolemia High concentrations of LDL and total cholesterol; xanthomas; arcus lipoides cornae; xanthalesmas; coronary heart disease ABCG5, ABCG8 Sitosterolemia High plasma sitosterol, campesterol; hypercholesterolemia; premature coronary heart disease; xanthomas MYH7, MYBPC3, TNNT2, TPM1, MYL2, MYL3, PLN Hypertrophic cardiomyopathy Hypertrophy of left ventricle, shortness of breath, diastolic dysfunction, left ventricular outflow ischemia PKP2, DSP, DSG2, JUP, TMEM43 Arrhythmogenic right ventricular cardiomyopathy Ventricular arrhythmias, right ventricular cardiomyopathy MYH7, MYBPC3, TNNT2, MYH6, MYPN, ANKRD1, RAF1, DES, DMD Familial dilated cardiomyopathy Diastolic dysfunction, left ventricular hypertrophy, atrial fibrillation, congestive heart failure FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, SKI Marfan’s syndrome Aortic aneurysm or dissection, valvular heart disease, enlargement of the proximal pulmonary artery, congestive heart failure, arrhythmias ACTA2, FBN1, MYH11, TGFBR1/2, LOX, COL3A1, TGFB2/3 Thoracic aortic aneurysm and dissection Chest pain, renal cysts, thumb-palm sign, temporal arteritis, bicuspid aortic valve, abdominal aneurysm, intracranial aneurysm BMPR2, BMPR1B, CAV1, KCNK3, SMAD9, ACVRL1, ENG, EIF2AK4 Pulmonary arterial hypertension Right ventricular failure, impaired brachial artery flow-mediated dilation, increased pulmonary vascular resistance KCNQ1/H2/E1/J2, SCN5A, CAV3, CALM1/2 Long QT syndrome Malignant arrhythmia, palpitations, syncope, anoxic seizures secondary to ventricular arrhythmia KCNH2 Short QT syndrome Abbreviated QTc interval on the ECG, propensity for atrial and ventricular arrhythmias SCN5A Brugada syndrome Elevation of the ST, ventricular fibrillation, syncope, arrhythmia 1.3 Known genes and variations related to cardiovascular disease Genomics has revealed some important mechanisms in this field by delving deeper into the association between genetic variation and cardiovascular disease. Through genome-wide association studies (GWAS) and other technologies, scientists have discovered multiple genes and variations associated with cardiovascular disease risk, disease progression, and prognosis. Among them, Hopewell et al. (2017) found that the APOE gene ε The 4-allele gene is associated with an increased risk of coronary heart disease and stroke, while the PCSK9 gene mutation may lead to an increase in low-density lipoprotein (LDL) cholesterol levels in the blood, thereby increasing the risk of cardiovascular disease. Variations in the ANGPTL gene family can affect blood lipid levels and angiogenesis (Oldoni et al., 2016), while variations in the LPL gene are associated with triglyceride metabolism (Young et al., 2019). Wang et al. (2018) found that variations in the CETP gene may affect cholesterol levels in HDL and LDL. The mechanisms of action of these genes and mutations in cardiovascular disease are complex and diverse, involving multiple aspects such as cholesterol metabolism, angiogenesis, and inflammatory response. In addition, Heshmatzad et al. (2023) discussed the role of non coding region variations in cardiovascular disease, including promoters/enhancers, introns, miRNAs, and 5'/3' UTRs, which account for 90% of all identified single nucleotide polymorphisms associated with cardiovascular features and diseases. Understanding these genetic variations is of great significance for the prevention, diagnosis, and treatment of cardiovascular diseases, as they can help us identify high-risk individuals and develop personalized intervention strategies. However, it is worth noting that genetic variation is only one of the many factors that contribute to the occurrence and development of cardiovascular diseases, while environmental factors, lifestyle factors, and others also play important roles.
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