| Summary: | (1) Background: Familial hypercholesterolemia (FH) is one of the most prevalent inherited metabolic disorders. The purpose of the study was to investigate the role in cardiovascular disease (CVD) of <i>PAI-1</i>, <i>ACE</i>, <i>ApoB-100</i>, <i>MTHFR A1298C</i>, and <i>C677T</i>. (2) Methods: From a group of 1499 patients, we included 52 patients diagnosed with FH phenotype and 17 patients in a control group. (3) Results: Most of the FH patients had multiple comorbidities compared to the control group, such as atherosclerosis (48.1% vs. 17.6%), atherosclerotic cardiovascular disease (ASCVD 32.7% vs. 11.8%), and metabolic syndrome (MetS, 40.4% vs. 11.8%). In total, 66.7% of the FH patients had <i>PAI-1 4G/5G</i> genotype and MetS. Between <i>4G/5G</i> and <i>4G/4G</i>, a statistically significant difference was observed (<i>p</i> = 0.013). FH patients with <i>ApoB R3500Q</i> polymorphism were correlated with ASCVD (<i>p</i> = 0.031). Both <i>MTHFR C677T</i> and <i>A1298C</i> polymorphisms had a significant correlation with gender, alcohol consumption, and smoking status. <i>ACE</i> polymorphism was associated with ATS in FH patients, statistically significant differences being observed between heterozygous and homozygous D genotype (<i>p</i> = 0.036) as well as between heterozygous and homozygous I genotype (<i>p</i> = 0.021). (4) Conclusions: A link between these polymorphisms was demonstrated in the FH group for ATS, ASCVD, and MetS.
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