Longitudinal association of pcsk9 sequence variations with low-density lipoprotein cholesterol levels: The coronary artery risk development in young adults study

Circulation: Cardiovascular Genetics

Volumn 2, Issue 4, 2009, Pages 354-361

  Huang, Chiang Ching ^a   Fornage, Myriam ^b   Lloyd Jones, Donald M ^a   Wei, Gina S ^d   Boerwinkle, Eric ^b,c   Liu, Kiang ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF TEXAS   (United States)

^d NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

Genetic variant; LDL C; Longitudinal study; PCSK9; Words

Indexed keywords

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

ADULT; ARTERY CALCIFICATION; ARTERY INTIMA PROLIFERATION; ARTICLE; ATHEROSCLEROSIS; CAROTID ARTERY; CAUCASIAN; CONTROLLED STUDY; CORONARY RISK; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; NEGRO; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL; ADOLESCENT; ALLELE; AMINO ACID SUBSTITUTION; BLOOD; CLINICAL TRIAL; CORONARY ARTERY DISEASE; GENETICS; MIDDLE AGED; MULTICENTER STUDY; MUTATION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SUBSTITUTION; APOLIPOPROTEINS E; CHOLESTEROL, LDL; CORONARY ARTERY DISEASE; FEMALE; GENOTYPE; HUMANS; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SERINE ENDOPEPTIDASES;

EID: 71849105837     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.108.828467     Document Type: Article

References (29)

1. RaDer DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest. 2003;111: 1795-1803.
2. Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH. Low LDL cholesterol in individuals of African Descent resulting from frequent nonsense mutations in PCSK9. Nat Genet. 2005;37: 161-165.
3. Dubuc G, Chamberland A, Wassef H, Davignon J, SeiDah NG, Bernier L, Prat A. Statins upregulate PCSK9, the gene encoding the proprotein convertase neural apoptosis-regulated convertase-1 implicated in familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2004;24: 1454-1459.
4. GrozDanov PN, Petkov PM, Karagyozov LK, Dabeva MD. Expression and localization of PCSK9 in rat hepatic cells. Biochem Cell Biol. 2006; 84:80-92.
5. Rashid S, Curtis DE, Garuti R, AnDerson NN, Bashmakov Y, Ho YK, Hammer RE, Moon YA, Horton JD. Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9. Proc Natl Acad Sci USA. 2005;102:5374-5379.
6. Sun XM, EDen ER, Tosi I, Neuwirth CK, Wile D, Naoumova RP, Soutar AK. EviDence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. Hum Mol Genet. 2005;14:1161-1169.
7. Horton JD, Shah NA, Warrington JA, AnDerson NN, Park SW, Brown MS, Goldstein JL. Combined analysis of oligonucleotiDe microarray Data from transgenic and knockout mice iDentifies direct SREBP target genes. Proc Natl Acad Sci USA. 2003;100:12027-12032.
8. Maxwell KN, Soccio RE, Duncan EM, Sehayek E, Breslow JL. Novel putative SREBP and LXR target genes iDentified by microarray analysis in liver of cholesterol-fed mice. J Lipid Res. 2003;44:2109-2119.
9. Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006;354:1264-1272.
10. Lambert G. Unravelling the functional significance of PCSK9. Curr Opin Lipidol. 2007;18:304-309.
11. Miyake Y, Kimura R, Kokubo Y, Okayama A, Tomoike H, Yamamura T, Miyata T. Genetic variants in PCSK9 in the Japanese population: rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population. Atherosclerosis. 2008;196: 29-36.
12. EVans D, Beil FU. The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women. BMC Med Genet. 2006;7:66.
13. Chen SN, Ballantyne CM, Gotto AM Jr, Tan Y, Willerson JT, Marian AJ. A common PCSK9 haplotype, encompassing the E670G coding single nucleotiDe polymorphism, is a novel genetic marker for plasma lowDensity lipoprotein cholesterol levels and severity of coronary atherosclerosis. J Am Coll Cardiol. 2005;45:1611-1619.
14. Naoumova RP, Tosi I, Patel D, Neuwirth C, Horswell SD, Marais AD, Van Heyningen C, Soutar AK. Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response. Arterioscler Thromb Vasc Biol. 2005; 25:2654-2660.
15. Kotowski IK, Pertsemlidis A, Luke A, Cooper RS, Vega GL, Cohen JC, Hobbs HH. A spectrum of PCSK9 alleles contributes to plasma levels of low-Density lipoprotein cholesterol. Am J Hum Genet. 2006;78:410-422.
16. Zhao Z, Tuakli-Wosornu Y, Lagace TA, Kinch L, Grishin NV, Horton JD, Cohen JC, Hobbs HH. Molecular characterization of loss-of-function mutations in PCSK9 and iDentification of a compound heterozygote. Am J Hum Genet. 2006;79:514-523.
17. Friedman GD, Cutter GR, Donahue RP, Hughes GH, Hulley SB, Jacobs DR Jr, Liu K, Savage PJ. CARDIA: study Design, recruitment, and some characteristics of the examined subjects. J Clin EpiDemiol. 1988;41: 1105-1116.
18. Warnick GR, Mayfield C, BenDerson J, Chen JS, Albers JJ. HDL cholesterol quantitation by phosphotungstate-Mg2+ and by Dextran sulfate- Mn2+-polyethylene glycol precipitation, both with enzymic cholesterol assay compared with the lipid research method. Am J Clin Pathol. 1982;78:718-723.
19. O'Leary DH, Polak JF, Kronmal RA, Savage PJ, Borhani NO, Kittner SJ, Tracy R, Gardin JM, Price TR, Furberg CD. Thickening of the carotid wall. A marker for atherosclerosis in the elDerly? Cardiovascular Health Study Collaborative Research Group. Stroke. 1996;27:224-231.
20. Carr JJ, Nelson JC, Wong ND, McNitt-Gray M, Arad Y, Jacobs DR Jr, Sidney S, Bild DE, Williams OD, Detrano RC. Calcified coronary artery plaque measurement with cardiac CT in population-based studies: stanDardized protocol of Multi-Ethnic Study of Atherosclerosis (MESA) and Coronary Artery Risk Development in Young Adults (CARDIA) study. Radiology. 2005;234:35-43.
21. Fornage M, Doris PA. Single-nucleotiDe polymorphism genotyping for disease association studies. Methods Mol Med. 2005;108:159-172.
22. AbifaDel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, SeiDah NG, Boileau C. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet. 2003;34:154-156. (Pubitemid 36666925)
23. Shioji K, Mannami T, Kokubo Y, Inamoto N, Takagi S, Goto Y, Nonogi H, Iwai N. Genetic variants in PCSK9 affect the cholesterol level in Japanese. J Hum Genet. 2004;49:109-114.
24. Timms KM, Wagner S, Samuels ME, Forbey K, Goldfine H, Jammulapati S, Skolnick MH, Hopkins PN, Hunt SC, Shattuck DM. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum Genet. 2004;114:349-353.
25. Hooper AJ, Marais AD, Tanyanyiwa DM, Burnett JR. The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population. Atherosclerosis. 2007;193:445-448.
26. Hallman DM, Srinivasan SR, Chen W, Boerwinkle E, Berenson GS. Relation of PCSK9 mutations to serum low-Density lipoprotein cholesterol in childhood and adulthood (from The Bogalusa Heart Study). Am J Cardiol. 2007;100:69-72.
27. Loria CM, Liu K, Lewis CE, Hulley SB, Sidney S, Schreiner PJ, Williams OD, Bild DE, Detrano R. Early adult risk factor levels and subsequent coronary artery calcification: the CARDIA Study. J Am Coll Cardiol. 2007;49:2013-2020.
28. Lloyd-Jones DM, Wilson PW, Larson MG, Leip E, Beiser A, D'Agostino RB, Cleeman JI, Levy D. Lifetime risk of coronary heart disease by cholesterol levels at selected ages. Arch Intern Med. 2003;163: 1966-1972.
29. Lalanne F, Lambert G, Amar MJ, Chetiveaux M, Zair Y, Jarnoux AL, Ouguerram K, Friburg J, SeiDah NG, Brewer HB Jr, Krempf M, Costet P. Wild-type PCSK9 inhibits LDL clearance but does not affect apoBcontaining lipoprotein production in mouse and cultured cells. J Lipid Res. 2005;46:1312-1319.