Novel Method for Predicting Lp(a) From Genomic Testing Identifies ASCVD Risk Across a Diverse Cohort

作者：Natalie Telis, Hang Dai, Ashley Waring, David Kann, Dana Wyman, Simon White, Basil Khuder, Francisco Tanudjaja, Alexandre Bolze, Matthew E. Levy, Cassie Hajek, Lisa M. McEwen, Douglas Stoller, Christopher N. Chapman, C. Anwar A. Chahal, Daniel P. Judge, Douglas A. Olson, Joseph J. Grzymski, Nicole Washington, William Lee, Elizabeth T. Cirulli, Shishi Luo, Kelly M. Schiabor Barrett · 发表于：JACC Basic to Translational Science · 年份：2025 · DOI：10.1016/j.jacbts.2025.04.012 · 被引用次数：2 · 研究领域：Aortic Thrombus and Embolism、Systemic Lupus Erythematosus Research、Lymphoma Diagnosis and Treatment

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.