Polymorphisms in the proprotein convertase subtilisin/kexin type 9 gene in clinically diagnosed patients with...

The aim of this study was to investigate polymorphisms in the proprotein convertase subtilisin/kexin type 9 gene and compare disease severity in familial hypercholesterolemia participants with and without these polymorphisms.

Fifty patients were included in this observational, cross-sectional study of primary data collection between June 2014 and June 2015 at Clinics Hospital of Ribeirão Preto Medical School/University of São Paulo Inclusion criteria for the study included individuals with an low-density lipoprotein cholesterol level ≥190 mg/dL, based on Dutch make early diagnosis prevent early death criteria for familial hypercholesterolemia. Patients with kidney disease, liver failure, a triglyceride level ≥300 mg/dL, or hypothyroidism were excluded. Gene analysis was performed using the high-resolution melting method. deoxyribonucleic acid samples with detected changes were sequenced to identify polymorphisms. Lipid profile, body mass index, history of cardiovascular events, gender, and statin use were compared between participants with and without polymorphisms.

Of the 50 patients, 14 carried proprotein convertase subtilisin/kexin type 9 polymorphisms. Familial hypercholesterolemia was not associated with these polymorphisms in this cohort. As gene expression was not assessed, no conclusions can be drawn regarding functional effects. Six patients (four in the polymorphism group and two in the non-polymorphism group) reported cardiovascular events. The significantly higher occurrence of these events in the polymorphism group suggests a possible association between the presence of proprotein convertase subtilisin/kexin type 9 polymorphisms and an increased cardiovascular risk.

Benign variants were identified in the proprotein convertase subtilisin/kexin type 9 gene, with no pathogenic alterations detected. Despite the significantly higher number of participants with a history of cardiovascular events in the polymorphism group, these data do not support a direct, causal association between these polymorphisms and an increased cardiovascular risk.