Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9

Nature Genetics

Volumn 37, Issue 2, 2005, Pages 161-165

  Cohen, Jonathan ^a,b   Pertsemlidis, Alexander ^a,b   Kotowski, Ingrid K ^b   Graham, Randall ^a   Garcia, Christine Kim ^a,b   Hobbs, Helen H ^a,b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9A PROTEIN; SERINE PROTEINASE; UNCLASSIFIED DRUG; PCSK9 PROTEIN, HUMAN;

ADULT; AFRICAN AMERICAN; ARTICLE; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; DNA SEQUENCE; EUROPEAN AMERICAN; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; HUMAN; HYPOCHOLESTEROLEMIA; MALE; NONSENSE MUTATION; POPULATION; PRIORITY JOURNAL; PROTEIN FUNCTION; BLOOD; GENETICS; HAPLOTYPE; MIDDLE AGED; NEGRO; PEDIGREE; STOP CODON;

ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; CHOLESTEROL, LDL; CODON, NONSENSE; FEMALE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; PEDIGREE; SERINE ENDOPEPTIDASES;

EID: 13944265645     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1509     Document Type: Article

References (21)

1. Goldstein, J., Hobbs, H. & Brown, M. Familial hypercholesterolemia. in The Metabolic and Molecular Bases of Inherited Disease, vol. II (eds. Scriver, C., Beaudet, A., Sly, W. & Valle, D.) 2863-2913 (McGraw Hill, New York, 2001).
2. Innerarity, T.L. et al. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J. Lipid Res. 31, 1337-1349 (1990).
3. Seidah, N.G. et al. The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. Proc. Natl. Acad. Sci. USA 100, 928-933 (2003).
4. Abifadel, M. et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat. Genet. 34, 154-156 (2003).
5. Maxwell, K.N. & Breslow, J.L. Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype. Proc. Natl. Acad. Sci. USA 101, 7100-7105 (2004).
6. Park, S.W., Moon, Y.A. & Horton, J.D. Post-transcriptional regulation of LDL receptor protein by proprotein convertase subtilisin/kexin type 9a (PCSK9) in mouse liver. J. Biol. Chem. 279, 50630-50638 (2004).
7. Benjannet, S. et al. NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the LDLR and LDL-cholesterol. J. Biol. Chem. 279, 48865-48875 (2004).
8. Timms, K.M. et al. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum. Genet. 114, 349-353 (2004).
9. Leren, T.P. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Clin. Genet. 65, 419-422 (2004).
10. Victor, R.G. et al. A population-based probability sample for the multidisciplinary study of ethnic disparities in cardiovascular disease: recruitment and validation in the Dallas Heart Study. Am. J. Cardiol. 93, 1473-1480 (2004).
11. Miettinen, T.A., Tilvis, R.S. & Kesaniemi, Y.A. Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population. Am. J. Epidemiol. 131, 20-31 (1990).
12. Otvos, J.D. Measurement of lipoprotein subclass profiles by nuclear magnetic resonance spectroscopy. in Handbook of Lipoprotein Testing, Ch. 28 (eds. Rifai, N., Warnick, G.R. and Dominiczack, M.H.) 497-508 (AACC Press, Washington, DC, 1997).
13. Horton, J.D. et al. Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes. Proc. Natl. Acad. Sci. USA 95, 5987-5992 (1998).
14. Cohen, J.C. et al. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305, 869-872 (2004).
15. Shioji, K. et al. Genetic variants in PCSK9 affect the cholesterol level in Japanese. J. Hum. Genet. 49, 109-114 (2004).
16. Hofer, F. et al. Members of the low density lipoprotein receptor family mediate cell entry of a minor-group common cold virus. Proc. Natl. Acad. Sci. USA 91, 1839-1842 (1994).
17. Agnello, V., Abel, G., Elfahal, M., Knight, G.B. & Zhang, Q.X. Hepatitis C virus and other flaviviridae viruses enter cells via low density lipoprotein receptor. Proc. Natl. Acad. Sci. USA 96, 12766-12771 (1999).
18. Mostaza, J.M., Schulz, I., Vega, G.L. & Grundy, S.M. Comparison of pravastatin with crystalline nicotinic acid monotherapy in treatment of combined hyperlipidemia. Am. J. Cardiol. 79, 1298-1301 (1997).
19. Wilund, K.R. et al. Plant sterol levels are not associated with atherosclerosis in mice and men. Arterioscler. Thromb. Vasc. Blot. 24, 2326-2332 (2004).
20. Marcovina, S.M., Albers, J.J., Gabel, B., Koschinsky, M.L. & Gaur, V.P. Effect of the number of apolipoprotein(a) kringle 4 domains on immunochemical measurements of lipoprotein(a). Clin. Chem. 41, 246-255 (1995).
21. Qin, Z.S., Niu, T. & Liu, J.S. Partition-ligation-expectation- maximization algorithm for haplotype inference with single-nucleotide polymorphisms. Am. J. Hum. Genet. 71, 1242-1247 (2002).