Identification of genetic biomarkers of blood cholesterol levels using whole gene pathogenicity modelling.

ABSTRACT: Elevated cholesterol increases risk of diseases such as heart disease, chronic kidney disease and diabetes and early detection and diagnosis is desirable to enable preventative intervention. This study seeks to elucidate genetic factors affecting low-density lipoprotein cholesterol (LDL-C) levels in blood, enabling development of personalised strategies for lipid management and cardiovascular disease prevention. GenePy, a gene pathogenicity scoring tool, condenses genetic variant data into a single burden score for both individuals and genes. GenePy scores were evaluated across all genes to assess their association with blood cholesterol levels, excluding participants on cholesterol-lowering medications. Nonparametric tests analysed the relationship between GenePy scores and cholesterol le

SUBMITTER: Sunny S 

PROVIDER: S-EPMC12408753 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature