Publications by authors named "Gunda Skudrina"
Despite the implementation of next-generation sequencing-based genetic testing on patients with clinical familial hypercholesterolemia (FH), most cases lack complete genetic characterization. We aim to investigate the utility of the polygenic risk score (PRS) in specifying the genetic background of patients from the Latvian Registry of FH (LRFH). We analyzed the whole-genome sequencing (WGS) data of the clinically diagnosed FH patients (n = 339) and controls selected from the Latvian reference population (n = 515).
View Article and Find Full Text PDFArticle Synopsis
- - The study focuses on identifying genetic variants associated with familial hypercholesterolemia (FH) in Latvian patients, as there is limited existing data on this condition in Latvia.
- - Whole genome sequencing was conducted on patients from the Latvian Registry of FH, revealing that 20.9% had pathogenic or likely pathogenic variants, primarily in the
- LDLR
- gene.
- - Although many patients had high LDL-cholesterol levels indicative of FH, the low diagnostic yield suggests that other genetic factors or mechanisms may play a role in this population.