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http://purl.uniprot.org/citations/29593015http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/29593015http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/29593015http://www.w3.org/2000/01/rdf-schema#comment"

Background

Elevated levels of low-density lipoprotein cholesterol (LDL-C) are a major risk factor for cardiovascular disease via its contribution to the development and progression of atherosclerotic lesions. Although the genetic basis of LDL-C has been studied extensively, currently known genetic variants account for only ≈20% of the variation in LDL-C levels.

Methods

Through an array-based association analysis in 1102 Amish subjects, we identified a variant strongly associated with LDL-C levels. Using a combination of genetic analyses, zebrafish models, and in vitro experiments, we sought to identify the causal gene driving this association.

Results

We identified a founder haplotype associated with a 15 mg/dL increase in LDL-C on chromosome 5. After recombination mapping, the associated region contained 8 candidate genes. Using a zebrafish model to evaluate the relevance of these genes to cholesterol metabolism, we found that expression of the transcribed pseudogene, APOOP1, increased LDL-C and vascular plaque formation.

Conclusions

Based on these data, we propose that APOOP1 regulates levels of LDL-C in humans, thus identifying a novel mechanism of lipid homeostasis."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.org/dc/terms/identifier"doi:10.1161/circulationaha.118.034016"xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Wang X."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Wang X."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Ryan K.A."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Ryan K.A."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Miller M."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Miller M."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Rice K."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Rice K."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Chang Y.C."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Chang Y.C."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Mitchell B.D."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Mitchell B.D."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"McFarland R."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"McFarland R."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Shuldiner A.R."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Shuldiner A.R."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Perry J.A."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Perry J.A."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Howard A.D."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Howard A.D."xsd:string
http://purl.uniprot.org/citations/29593015http://purl.uniprot.org/core/author"Montasser M.E."xsd:string
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