Genetic insights and biochemical profiles in hyperlipidemia: a cohort study from Eastern Anatolia

This study investigates the genetic and clinical characteristics of hyperlipidemia in patients from Eastern Anatolia. A retrospective cohort of 205 patients (aged 3-71) underwent next-generation sequencing (NGS) to identify genetic variations in lipid metabolism genes (LDLR, APOB and LPL), which were then correlated with the patients' clinical data. Patients with obesity or chronic diseases were excluded. The LDLR c.1729T > C variant was detected in 12 patients. Severe hypertriglyceridemia was observed in patients with homozygous variants in GPIHBP1 and LPL. Elevated triglyceride levels have also been observed to be associated with variants such as APOA5 c.70C > T, thus highlighting their role in lipid metabolism. Phenotypic variation was observed based on the type of genetic variant and its zygosity. The study emphasizes the intricate relationship between lipid metabolism and genetic abnormalities, underscoring potential ramifications for personalized treatment strategies. The report calls for the incorporation of genetic screening into clinical practice with a view to improving diagnostics and outcomes, and it emphasizes the necessity for further research to achieve a full understanding of variants of uncertain significance (VUS) and their associated phenotypes.