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- Title
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
- Authors
Abifadel, Marianne; Varret, Mathilde; Rabès, Jean-Pierre; Allard, Delphine; Ouguerram, Khadija; Devillers, Martine; Cruaud, Corinne; Benjannet, Suzanne; Wickham, Louise; Erlich, Danièle; Derré, Aurélie; Villéger, Ludovic; Farnier, Michel; Beucler, Isabel; Bruckert, Eric; Chambaz, Jean; Chanu, Bernard; Lecerf, Jean-Michel; Luc, Gerald; Moulin, Philippe; Weissenbach, Jean; Prat, Annick; Krempf, Michel; Junien, Claudine; Seidah, Nabil G; Boileau, Catherine
- Abstract
Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipoprotein B). We mapped a third locus associated with ADH, HCHOLA3 at 1p32, and now report two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH. PCSK9 encodes NARC-1 (neural apoptosis regulated convertase), a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis.
- Publication
Nature genetics, 2003, Vol 34, Issue 2, p154
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1161