Familial hypercholesterolemia: PCSK9 InsLEU genetic variant and prediabetes/diabetes risk

Journal of Clinical Lipidology

Volumn 9, Issue 6, 2015, Pages 786-793.e1

  Saavedra, Yascara G Luna ^a,b   Dufour, Robert ^b,c   Baass, Alexis ^a,b  

^a CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Diabetes; Familial hypercholesterolemia; Hyperglycemia; InsLEU; PCSK9 polymorphism

Indexed keywords

GLUCOSE; PCSK9 PROTEIN, HUMAN; SERINE PROTEINASE;

ADULT; ARTICLE; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPING TECHNIQUE; GLUCOSE BLOOD LEVEL; GLUCOSE METABOLISM; HETEROZYGOTE; HUMAN; IMPAIRED GLUCOSE TOLERANCE; MALE; PCSK9 GENE; PRIORITY JOURNAL; COHORT ANALYSIS; COMPLICATION; CROSS-SECTIONAL STUDY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; COHORT STUDIES; CROSS-SECTIONAL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDIABETIC STATE; PROPROTEIN CONVERTASES; SERINE ENDOPEPTIDASES;

EID: 84949656431     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2015.08.005     Document Type: Article

References (34)

1. A. Brautbar, E. Leary, K. Rasmussen, D.P. Wilson, R.D. Steiner, and S. Virani Genetics of familial hypercholesterolemia Curr Atheroscler Rep 17 4 2015 491
2. M. Abifadel, L. Bernier, G. Dubuc, and et al. A PCSK9 variant and familial combined hyperlipidaemia J Med Genet 45 12 2008 780 786
3. M. Abifadel, M. Varret, J.-P. Rabès, and et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia Nat Genet 34 2 2003 154 156
4. K.N. Maxwell, and J.L. Breslow Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype Proc Natl Acad Sci U S A 101 18 2004 7100 7105
5. J.C. Cohen, E. Boerwinkle, T.H. Mosley, and H.H. Hobbs Sequence variations in PCSK9, low LDL, and protection against coronary heart disease N Engl J Med 354 12 2006 1264 1272
6. A.M. Navar-Boggan, E.D. Peterson, R.B. D'Agostino, B. Neely, A.D. Sniderman, and M.J. Pencina Hyperlipidemia in early adulthood increases long-term risk of coronary heart disease Circulation 131 5 2015 451 458
7. T.P. Leren Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia Clin Genet 65 5 2004 419 422
8. K. Shioji, T. Mannami, Y. Kokubo, and et al. Genetic variants in PCSK9 affect the cholesterol level in Japanese J Hum Genet 49 2 2004 109 114
9. T. Fasano, A.B. Cefalù, E. Di Leo, and et al. A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol Arterioscler Thromb Vasc Biol 27 3 2007 677 681
10. Y. Miyake, R. Kimura, Y. Kokubo, and et al. 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 196 1 2008 29 36
11. L. Pisciotta, R. Sallo, C. Rabacchi, A. Wunsch, S. Calandra, and S. Bertolini Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia Nutr Metab Cardiovasc Dis 22 10 2012 831 835
12. A. Slimani, M.Y. Hrira, M. Najah, and et al. PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk Mol Cell Probes 29 2015 1 6
13. P. Yue, M. Averna, X. Lin, and G. Schonfeld The c.43-44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population Hum Mutat 27 5 2006 460 466
14. M. Abifadel, J.-P. Rabès, S. Jambart, and et al. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene Hum Mutat 30 7 2009 E682 E691
15. Z. Awan, E.E. Delvin, E. Levy, and et al. Regional distribution and metabolic effect of PCSK9 insLEU and R46L gene mutations and apoE genotype Can J Cardiol 29 8 2013 927 933
16. J.A. Tobert Lovastatin and beyond: the history of the HMG-CoA reductase inhibitors Nat Rev Drug Discov 2 7 2003 517 526
17. N. Sattar, D. Preiss, H.M. Murray, and et al. Statins and risk of incident diabetes: a collaborative meta-analysis of randomised statin trials Lancet 375 9716 2010 735 742
18. D. Preiss, S.R.K. Seshasai, P. Welsh, and et al. Risk of incident diabetes with intensive-dose compared with moderate-dose statin therapy: a meta-analysis JAMA 305 24 2011 2556 2564
19. E.P. Navarese, A. Buffon, F. Andreotti, and et al. Meta-analysis of impact of different types and doses of statins on new-onset diabetes mellitus Am J Cardiol 111 8 2013 1123 1130
20. R.T. Dadu, and C.M. Ballantyne Lipid lowering with PCSK9 inhibitors Nat Rev Cardiol 11 10 2014 563 575
21. C. Langhi, C. Le May, V. Gmyr, and et al. PCSK9 is expressed in pancreatic delta-cells and does not alter insulin secretion Biochem Biophys Res Commun 390 4 2009 1288 1293
22. M. Mbikay, F. Sirois, J. Mayne, and et al. PCSK9-deficient mice exhibit impaired glucose tolerance and pancreatic islet abnormalities FEBS Lett 584 4 2010 701 706
23. Z. Awan, G. Dubuc, M. Faraj, and et al. The effect of insulin on circulating PCSK9 in postmenopausal obese women Clin Biochem 47 12 2014 1033 1039
24. P. Costet, B. Cariou, G. Lambert, and et al. Hepatic PCSK9 expression is regulated by nutritional status via insulin and sterol regulatory element-binding protein 1c J Biol Chem 281 10 2006 6211 6218
25. L. Persson, C. Gälman, B. Angelin, and M. Rudling Importance of proprotein convertase subtilisin/kexin type 9 in the hormonal and dietary regulation of rat liver low-density lipoprotein receptors Endocrinology 150 3 2009 1140 1146
26. S.G. Lakoski, T.A. Lagace, J.C. Cohen, J.D. Horton, and H.H. Hobbs Genetic and metabolic determinants of plasma PCSK9 levels J Clin Endocrinol Metab 94 7 2009 2537 2543
27. A. Baass, G. Dubuc, M. Tremblay, and et al. Plasma PCSK9 is associated with age, sex, and multiple metabolic markers in a population-based sample of children and adolescents Clin Chem 55 9 2009 1637 1645
28. Y.G. Luna Saavedra, R. Dufour, J. Davignon, and A. Baass PCSK9 R46L, lower LDL, and cardiovascular disease risk in familial hypercholesterolemia: a cross-sectional cohort study Arterioscler Thromb Vasc Biol 34 2014 2700 2705
29. Committee NH and LI (U. S) LRCPLM Manual of Laboratory Operations: Lipid and Lipoprotein Analysis, Volume 1 1974 National Heart and Lung Institute, National Insitutes of Health New York
30. J. Besseling, J.J.P. Kastelein, J.C. Defesche, B.A. Hutten, and G.K. Hovingh Association between familial hypercholesterolemia and prevalence of type 2 diabetes mellitus JAMA 313 10 2015 1029
31. M. Ishikawa, Y. Iwasaki, S. Yatoh, and et al. Cholesterol accumulation and diabetes in pancreatic beta-cell-specific SREBP-2 transgenic mice: a new model for lipotoxicity J Lipid Res 49 12 2008 2524 2534
32. Public Health Agency of Canada. Public Health Agency of Canada, Diabetes in Canada: Facts and Figures From a Public Health Perspective. 2011. Available at: http://www.phac-aspc.gc.ca/cd-mc/diabetes-diabete/index-eng.php. Accessed June 2015.
33. A. Zorzi, G. Wahi, A.J. Macnab, and C. Panagiotopoulos Prevalence of impaired glucose tolerance and the components of metabolic syndrome in Canadian Tsimshian Nation youth Can J Rural Med 14 2 2009 61 67
34. D.J. Blom, T. Hala, M. Bolognese, and et al. A 52-week placebo-controlled trial of evolocumab in hyperlipidemia N Engl J Med 370 19 2014 1809 1819