Article
LIPA, a risk locus for coronary artery disease: decoding the variant-to-function relationship.
European heart journal - 22 Dec 2025
Li Fang, Flynn Elise, Ha Philip, Zebak Mazal N, Cheng Haoxiang, Xue Chenyi, Shi Jianting, Wu Xun, Wang Ziyi, Meng Yujiao, Cui Jian, Zhu Yizhou, Rozenblyum Annie, Chun Jeana, Hernandez-Ono Antonio, Javaheri Ali, Razani Babak, Westerterp Marit, Bauer Robert C, Suh Yousin, Hao Ke, Lappalainen Tuuli, Zhang Hanrui
Abstract excerpt
BACKGROUND AND AIMS: Translating human genomic discoveries into mechanistic insights requires linking genetic variations to candidate genes and their causal functional phenotypes. Genome-wide association studies have consistently identified LIPA (lipase A, lysosomal acid type) as a risk locus for coronary artery disease, with previous analyses prioritising LIPA as a likely causal gene. However, functional studies...
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