Coronary Artery Disease–Associated LIPA Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes | Zendy

G E Morris | Zendy; Peter S. Braund | Zendy; J. Moore | Zendy; Nilesh J. Samani | Zendy; Veryan Codd | Zendy; Tom R. Webb | Zendy

Open Access

Coronary Artery Disease–Associated LIPA Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes

Author(s) -

G E Morris,

Peter S. Braund,

J. Moore,

Nilesh J. Samani,

Veryan Codd,

Tom R. Webb

Publication year - 2017

Publication title -

arteriosclerosis thrombosis and vascular biology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.007

H-Index - 270

eISSN - 1524-4636

pISSN - 1079-5642

DOI - 10.1161/atvbaha.116.308734

Subject(s) - genotype , allele , biology , lysosome , endocrinology , medicine , microbiology and biotechnology , genetics , enzyme , gene , biochemistry

Genome-wide association studies have linked variants at chromosome 10q23 with increased coronary artery disease risk. The disease-associated variants fall in LIPA , which encodes lysosomal acid lipase (LAL), the enzyme responsible for lysosomal cholesteryl ester hydrolysis. Loss-of-function mutations in LIPA result in accelerated atherosclerosis. Surprisingly, the coronary artery disease variants are associated with increased LIPA expression in some cell types. In this study, we address this apparent contradiction.

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