Genetic variation at the NPC1L1 gene locus, plasma lipoproteins, and heart disease risk in the elderly

Journal of Lipid Research

Volumn 51, Issue 5, 2010, Pages 1201-1207

  Polisecki, Eliana ^a   Peter, Inga ^b   Simon, Jason S ^c   Hegele, Robert A ^d   Robertson, Michele ^e   Ford, Ian ^e   Shepherd, James ^h   Packard, Christopher ^e   Jukema, J Wouter ^f   De Craen, Anton J M ^f   Westendorp, Rudi G J ^f   Buckley, Brendan M ^g   Schaefer, Ernst J ^a  

^a TUFTS UNIVERSITY   (United States)

^b NEW YORK UNIVERSITY   (United States)

^c MERCK RESEARCH LABORATORIES   (United States)

^d ROBARTS RESEARCH INSTITUTE   (Canada)

^e UNIVERSITY OF GLASGOW   (United Kingdom)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY COLLEGE CORK   (Ireland)

^h NONE

Author keywords

Cholesterol absorption; Coronary heart disease; Low density lipoprotein; Single nucleotide polymorphism; Statins

Indexed keywords

APOLIPOPROTEIN B; CHOLESTEROL; LIPID; LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; NIEMANN PICK C1 LIKE 1 PROTEIN; PLACEBO; PRAVASTATIN; UNCLASSIFIED DRUG;

AGED; ALLELE; ARTICLE; CARDIOVASCULAR RISK; CHOLESTEROL BLOOD LEVEL; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; GERIATRICS; HAPLOTYPE; HEART INFARCTION; HOMOZYGOSITY; HUMAN; INCIDENCE; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; SEX DETERMINATION; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE;

AGED; AGED, 80 AND OVER; CORONARY DISEASE; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; LIPOPROTEINS; MALE; MEMBRANE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PRAVASTATIN; RISK; TREATMENT OUTCOME;

EID: 77951069483     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.P001172     Document Type: Article

References (35)

1. Ingelsson, E., E. J. Schaefer, J. H. Contois, J. R. McNamara, L. Sullivan, M. J. Keyes, M. J. Pencina, C. Schoonmaker, P. W. Wilson, R. B. D'Agostino, et al. 2007. Clinical utility of different lipid measures for prediction of coronary heart disease in men and women. JAMA. 298: 776-785. (Pubitemid 47263160)
2. Wilson, P. W., R. B. D'Agostino, D. Levy, A. M. Belanger, H. Silbershatz, and W. B. Kannel. 1998. Prediction of coronary heart disease using risk factor categories. Circulation. 97: 1837-1847. (Pubitemid 28213628)
3. Miettinen, T. A., and Y. A. Kesaniemi. 1989. Cholesterol absorption: regulation of cholesterol synthesis and elimination and within population variations of serum cholesterol levels. Am. J. Clin. Nutr. 49: 629-635.
4. Tikkanen, M. J. 2005. Plant sterols and stanols. In Handbook of Experimental Pharmocology. Springer-Verlag, Berlin. 215-230.
5. Gylling, H., and T. A. Miettinen. 2002. Inheritance of cholesterol metabolism of probands with high or low cholesterol absorption. J. Lipid Res. 43: 1472-1476.
6. Gylling, H., D. E. Laaksonen, M. Atalay, M. Hallikainen, L. Niskanen, and T. A. Miettinin. 2007. Markers of absorption and synthesis of cholesterol in men with type 1 diabetes. Diabetes Metab. Res. Rev. 23: 372-377.
7. Davies, J. P., B. Levy, and Y. A. Ioannou. 2000. Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1. Genomics. 65: 137-145.
8. Carstea, E.D., J.A. Morris, K.G. Coleman, S.K. Loftus, D. Zhang, C. Cummings, J. Gu, M.A. Rosenfeld, W.J. Pavan, D.B. Krizman, et al. 1997. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 277: 228-231. (Pubitemid 27446076)
9. Davis, H. R., Jr., and Altmann, S. W. 2009. Niemann-Pick C1 Like 1 (NPC1L1) an intestinal sterol transporter. Biochim. Biophys. Acta. 1791: 679-683.
10. Altmann, S. W., H. R. Jr. Davis, L. J. Zhu, X. Yao, L. M. Hoos, G. Tetzloff, S. P. Iyer, M. Maguire, A. Golovko, M. Zeng, et al. 2004. Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption. Science. 303: 1201-1204.
11. Temel, R. E., W. Tang, Y. Ma, L. L. Rudel, M. C. Willingham, Y. A. Ioannou, J. P. Davies, L. M. Nilsson, and L. Yu. 2007. Hepatic Niemann-Pick C1-like 1 regulates biliary cholesterol concentration and is a target of ezetimibe. J. Clin. Invest. 117: 1968-1978.
12. Cohen, J. C., A. Pertsemlidis, S. Fahmi, S. Esmail, G. L. Vega, S. M. Grundy, and H. H. Hobbs. 2006. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc. Natl. Acad. Sci. USA. 103: 1810-1815.
13. Garcia-Calvo, M., J. Lisnock, H. G. Bull, B. E. Hawes, D. A. Burnett, M. P. Braun, J. H. Crona, H. R. Davis, Jr., D. C. Dean, P. A. Detmers, et al. 2005. The target of ezetimibe is Niemann-Pick C1-Like 1 (NPC1L1). Proc. Natl. Acad. Sci. USA. 102: 8132-8137. (Pubitemid 40800055)
14. Wang, J., C. M. Williams, and R. A. Hegele. 2005. Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe. Clin. Genet. 67: 175-177.
15. Simon, J. S., M. C. Karnoub, D. J. Devlin, M. G. Arreaza, P. Qiu, S. A. Monks, M. E. Severino, P. Deutsch, J. Palmisano, A. B. Sachs, et al. 2005. Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment. Genomics. 86: 648-656.
16. Hegele, R. A., J. Guy, M. R. Ban, and J. Wang. 2005. NPC1L1 haplotype is associated with inter-individual variation in plasma low-density lipoprotein response to ezetimibe. Lipids Health Dis. 4: 16.
17. van Himbergen, T. M., N. R. Matthan, N. A. Resteghini, S. Otokozawa, M. Ai, E. A. Stein, P. H. Jones, and E. J. Schaefer. 2009. Comparison of the effects of maximal dose atorvastatin and rosuvastatin therapy on cholesterol synthesis and absorption markers. J. Lipid Res. 50: 730-739.
18. Miettinen, T. A., and H. Gylling. 2003. Synthesis and absorption markers of cholesterol in serum and lipoproteins during a large dose of statin treatment. Eur. J. Clin. Invest. 33: 976-982.
19. Miettinen, T. A., T. E. Stranberg, and H. Gylling. 2000. Non-cholesterol sterols and cholesterol lowering by long term simvastatin treatment in coronary patients:realtion to basal serum cholestanol. Arterioscler. Thromb. Vasc. Biol. 20: 1340-1346.
20. Duane, W. C. 1993. Effects of lovastatin and dietary cholesterol on sterol homeostasis in healthy human subjects. J. Clin. Invest. 92: 911-918.
21. Miettinen, T. A., H. Gylling, T. Stransberg, and S. Sarna. 1998. Baseline serum cholestanol as predictopr of recurrent coronary events in subgroup of Scandinavian simvastatin survival study. BMJ. 316: 1127-1130.
22. Shepherd, J., G. J. Blauw, M. B. Murphy, S. M. Cobbe, E. L. Bollen, B. M. Buckley, I. Ford, J. W. Jukema, M. Hyland, A. Gaw, et al. 1999. The design of a prospective study of Pravastatin in the Elderly at Risk (PROSPER). PROSPER Study Group. PROspective Study of Pravastatin in the Elderly at Risk. Am. J. Cardiol. 84: 1192-1197.
23. Shepherd, J., G. J. Blauw, M. B. Murphy, E. L. Bollen, B. M. Buckley, S. M. Cobbe, I. Ford, A. Gaw, M. Hyland, J. W. Jukema, et al. 2002. PROSPER study group. PROspective Study of Pravastatin in the Elderly at Risk. Pravastatin in elderly individuals at risk of vascular disease (PROSPER): a randomised controlled trial. Lancet. 360: 1623-1630.
24. Havekes, L. M., P. de Knijff, U. Beisiegel, J. Havinga, M. Smit, and E. Klasen. 1987. A rapid micromethod for apolipoprotein E phenotyping directly in serum. J. Lipid Res. 28: 455-463.
25. Lahoz, C., D. Osgood, P. W. Wilson, E. J. Schaefer, and J. M. Ordovas. 1996. Frequency of phenotype-genotype discrepancies at the apolipoprotein E locus in a large population study. Clin. Chem. 42: 1817-1823.
26. Ordovas, J. M., J. Lopez-Miranda, F. Perez-Jimenez, C. Rodriguez, J. S. Park, T. Cole, and E. J. Schaefer. 1995. Effect of apolipoprotein E and A-IV phenotypes on the low density lipoprotein response to HMG CoA reductase inhibitor therapy. Atherosclerosis. 113: 157-166.
27. Pedro-Botet, J., E. J. Schaefer, R. G. Bakker-Arkema, D. M. Black, E. M. Stein, D. Corella, and J. M. Ordovas. 2001. Apolipoprotein E genotype affects plasma lipid response to atorvastatin in a gender specific manner. Atherosclerosis. 158: 183-194.
28. Wilson, P. W. F., E. J. Schaefer, M. G. Larson, and J. M. Ordovas. 1996. Apolipoprotein E alleles and risk of coronary disease: a metaanalysis. Arterioscler. Thromb. Vasc. Biol. 16: 1250-1255. (Pubitemid 26339712)
29. Lahoz, C., E. J. Schaefer, L. A. Cupples, P. W. Wilson, D. Levy, D. Osgood, S. Parpos, J. Pedro-Botet, J. A. Daly, and J. M. Ordovas. 2001. Apolipoprotein E genotype and cardiovascular disease in the Framingham Heart Study. Atherosclerosis. 154: 529-537. (Pubitemid 32232149)
30. Lewontin, R. C. 1964. The interaction of selection and linkage. II. Optimum models. Genetics. 50: 757-782.
31. Expert Panel. 2001. Executive summary of the third report of the National Cholesterol Education Program (NCEP). Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). JAMA. 285: 2486-2497.
32. Willer, C. J., S. Sanna, A. U. Jackson, A. Scuteri, L. L. Bonnycastle, R. Clarke, S. C. Heath, N. J. Timpson, S. S. Najjar, H. M. Stringham, et al. 2008. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat. Genet. 40: 161-169.
33. Kajinami, K., M. E. Brousseau, S. Lamon-Fava, J. M. Ordovas, and E. J. Schaefer. 2005. Gender specific effects of estrogen receptor alpha gene haplotype on lipid response to atorvastatin: interaction with apolipoprotein AI promoter gene polymorphism. Atherosclerosis. 178: 331-338.
34. Nackley, A. G., S. A. Shabalina, I. E. Tchivileva, K. Satterfield, O. Korchynskyi, S. S. Makarov, W. Maixner, and L. Diatchenko. 2006. Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure. Science. 314: 1930-1933. (Pubitemid 46026115)
35. Kimchi-Sarfaty, C., J. M. Oh, I. W. Kim, Z. E. Sauna, A. M. Calcagno, S. V. Ambudkar, and M. M. Gottesman. 2007. A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science. 315: 525-528. (Pubitemid 46175758)