Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

Abstract The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-region. KIV-2 is highly polymorphic in the population and accurate analysis is challenging. In this study, w...

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Main Authors: Sairam Behera, Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh H. Nguyen, Emma Newman, Medhat Mahmoud, Vipin K. Menon, Qibin Qi, Parag Joshi, Santica Marcovina, Massimiliano Rossi, Eric Roller, James Han, Vitor Onuchic, Christy L. Avery, Christie M. Ballantyne, Carlos J. Rodriguez, Robert C. Kaplan, Donna M. Muzny, Ginger A. Metcalf, Richard A. Gibbs, Bing Yu, Eric Boerwinkle, Michael A. Eberle, Fritz J. Sedlazeck
Format: Article
Language:English
Published: BMC 2024-10-01
Series:BMC Medical Genomics
Subjects:
LPA
Copy number variation
Cardiovascular disease
Next Generation Sequencing
Illumina
Online Access:https://doi.org/10.1186/s12920-024-02024-0
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https://doi.org/10.1186/s12920-024-02024-0

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