Novel method for predicting Lp(a) from genomic testing identifies ASCVD risk across a diverse cohort Journal Article uri icon
Overview
abstract
  • Lipoprotein(a) (Lp[a]) is a genetic and often unmeasured contributor to atherosclerotic cardiovascular disease (ASCVD) risk. In this study, Lp(a) was estimated from exome data by quantifying Kringle IV subtype 2 repeats alongside a single-nucleotide variant-based genetic risk score. This method was applied to a diverse cohort (N = 76,147) from the Helix Research Network. The method better identified individuals with high Lp(a) levels, especially among individuals not genetically similar to Europeans. High genetic risk for high Lp(a) level was correlated with earlier and more frequent ASCVD diagnoses. Those with high genetic Lp(a) were more likely to have ASCVD without traditional risk factors present.

  • Link to Article
    publication date
  • 2025
  • published in
    Research
    keywords
  • Cardiovascular Diseases
  • Genetics
  • cardiovascular disease
  • clinical genetics
  • genomics
  • lipoprotein(a)