P293: A novel method for predicting Lp(a) levels from routine outpatient genomic testing identifies those at risk of cardiovascular disease
Lipoprotein(a) (Lp(a)) levels are largely genetically determined and often an unmeasured predictor of future Atherosclerotic Cardiovascular Disease (ASCVD). With the increased use of exome sequencing in the clinical setting, there is an opportunity to identify patients who have a high chance of having elevated Lp(a) and are therefore at risk of ASCVD. However, accurate genetic predictors of Lp(a) are challenging to design. In addition to single nucleotide variants (SNVs), which are often summarized as a combined genetic risk score, Lp(a) levels are significantly impacted by copy number variation in repeats of the kringle IV subtype 2 domain (KIV-2), which are challenging to quantify.
Authors
- Natalie Telis (ORCID: https://orcid.org/0000-0002-4813-6893)
- Christopher Chapman (ORCID: https://orcid.org/0000-0003-1848-1490)
- Douglas Stoller (ORCID: https://orcid.org/0000-0002-4064-4324)
- Shishi Luo (ORCID: https://orcid.org/0000-0001-8887-0614)
- Catherine Hajek (ORCID: https://orcid.org/0000-0002-7497-4540)
- Nicole Washington (ORCID: https://orcid.org/0000-0001-8936-9143)
- Ashley Waring
- Basil Khuder (ORCID: https://orcid.org/0000-0002-1012-6198)
- Kelly M. Schiabor Barrett (ORCID: https://orcid.org/0000-0001-6194-787X)
- Alexandre Bolze (ORCID: https://orcid.org/0000-0001-7399-2766)
- Lisa M. McEwen (ORCID: https://orcid.org/0000-0002-0500-9173)
- Francisco Tanudjaja (ORCID: https://orcid.org/0000-0002-6233-0238)
- Matthew E. Levy (ORCID: https://orcid.org/0000-0002-2164-1726)
- Dana Wyman (ORCID: https://orcid.org/0000-0002-1002-2188)
- Joseph J. Grzymski (ORCID: https://orcid.org/0000-0003-2646-8958)
- Daniel Philip Judge (ORCID: https://orcid.org/0000-0002-3407-0248)
- C. Anwar A. Chahal (ORCID: https://orcid.org/0000-0001-7825-8827)
- David Kann
- Hang Dai (ORCID: https://orcid.org/0000-0002-7609-0124)
- Elizabeth T. Cirulli (ORCID: https://orcid.org/0000-0001-7808-2809)
- William Lee (ORCID: https://orcid.org/0000-0001-9582-4413)
- Simon White (ORCID: https://orcid.org/0000-0001-6375-2363)
- Douglas A. Olson
Institutions
- St. Luke's University Health Network (US)
- University of Nevada, Reno (US)
- Medical University of South Carolina (US)
- WellSpan Health (US)
- Helix (United States) (US)
- HealthPartners (US)
- University of Nebraska Medical Center (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102258
- Primary Topic
- Monoclonal and Polyclonal Antibodies Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00