A study reports a new genetic factor that influences LDL-cholesterol (LDL-C) levels, revealing a potential novel mechanism of lipid homeostasis. An array-based association analysis in 1,102 Amish individuals identified a variant in chromosome 5 that was associated with a 15 mg/dl increase in LDL-C levels. Genetic analyses indicated eight candidate genes in this region and functional studies in zebrafish showed that overexpression of one of the candidates, the transcribed pseudogene APOOP1, increased LDL-C levels and vascular plaque formation. Further assays provided a possible regulatory link to its parent gene, APOO (encoding apolipoprotein O), suggesting APOO as a novel target for hyperlipidaemia.
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Montasser, M. E. et al. An APOO pseudogene on chromosome 5q is associated with LDL-C levels. Circulation https://doi.org/10.1161/CIRCULATIONAHA.118.034016 (2018)
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Fernández-Ruiz, I. Novel genetic variant linked with high LDL-C levels. Nat Rev Cardiol 15, 318 (2018). https://doi.org/10.1038/s41569-018-0016-x
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DOI: https://doi.org/10.1038/s41569-018-0016-x