Children with hypercholesterolemia of unknown cause: Value of genetic risk scores

Journal of Clinical Lipidology

Volumn 10, Issue 4, 2016, Pages 851-859

  Sjouke, Barbara ^a   Tanck, Michael W T ^a   Fouchier, Sigrid W ^a   Defesche, Joep C ^a   Hutten, Barbara A ^a   Wiegman, Albert ^a   Kastelein, John J P ^a   Hovingh, G Kees ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Familial hypercholesterolemia; Genetic risk scores; Polygenic hypercholesterolemia

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN E; ATORVASTATIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9; ROSUVASTATIN; SERINE PROTEINASE; SIMVASTATIN; UNCLASSIFIED DRUG; PCSK9 PROTEIN, HUMAN; PROPROTEIN CONVERTASE 9;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENETIC RISK; GENETIC RISK SCORE; GENOTYPE; HUMAN; HYPERCHOLESTEROLEMIA; MALE; MIDDLE AGED; MOLECULAR DIAGNOSIS; MULTIFACTORIAL INHERITANCE; PHENOTYPE; PREDICTIVE VALUE; PRIORITY JOURNAL; RISK FACTOR; SCHOOL CHILD; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT; GENETIC PREDISPOSITION; GENETICS; PRESCHOOL CHILD; RISK ASSESSMENT;

ADOLESCENT; APOLIPOPROTEINS B; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERCHOLESTEROLEMIA; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPROTEIN CONVERTASE 9; RECEPTORS, LDL; RISK ASSESSMENT;

EID: 84964269914     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2016.02.017     Document Type: Article

References (26)

1. 1 Goldstein, J.L., Hobbs, H.H., Brown, M.S., Familial Hypercholesterolemia. Scriver, C., Beaudet, A., Sly, W., Valle, D., (eds.) The metabolic and molecular bases of inherited disease, 8th ed., 2001, McGraw-Hill, New York, 2863–2913.
2. 2 Motazacker, M.M., Pirruccello, J., Huijgen, R., et al. Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. Eur Heart J 33 (2012), 1360–1366.
3. 3 Taylor, A., Wang, D., Patel, K., et al. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. Clin Genet 77 (2010), 572–580.
4. 4 Lambert, G., Sjouke, B., Choque, B., Kastelein, J.J., Hovingh, G.K., The PCSK9 decade. J Lipid Res 53 (2012), 2515–2524.
5. 5 Nordestgaard, B.G., Chapman, M.J., Humphries, S.E., et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society. Eur Heart J 34 (2013), 3478–3490a.
6. 6 Benn, M., Watts, G.F., Tybjaerg-Hansen, A., Nordestgaard, B.G., Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 97 (2012), 3956–3964.
7. 7 van der Graaf, A., Avis, H.J., Kusters, D.M., et al. Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. Circulation 123 (2011), 1167–1173.
8. 8 Abifadel, M., Varret, M., Rabes, J.P., et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 34 (2003), 154–156.
9. 9 Fouchier, S.W., Dallinga-Thie, G.M., Meijers, J.C., et al. Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia. Circ Res 115 (2014), 552–555.
10. 10 Sniderman, A.D., Tsimikas, S., Fazio, S., The severe hypercholesterolemia phenotype: clinical diagnosis, management, and emerging therapies. J Am Coll Cardiol 63 (2014), 1935–1947.
11. 11 Talmud, P.J., Shah, S., Whittall, R., et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 381 (2013), 1293–1301.
12. 12 Reymer, P.W., Groenemeyer, B.E., van de Burg, R., Kastelein, J.J., Apolipoprotein E genotyping on agarose gels. Clin Chem 41 (1995), 1046–1047.
13. 13 Teslovich, T.M., Musunuru, K., Smith, A.V., et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466 (2010), 707–713.
14. 14 Bennet, A.M., Di, A.E., Ye, Z., et al. Association of apolipoprotein E genotypes with lipid levels and coronary risk. JAMA 298 (2007), 1300–1311.
15. 15 Davidson, M.H., McGarry, T., Bettis, R., et al. Ezetimibe coadministered with simvastatin in patients with primary hypercholesterolemia. J Am Coll Cardiol 40 (2002), 2125–2134.
16. 16 Law, M.R., Wald, N.J., Rudnicka, A.R., Quantifying effect of statins on low density lipoprotein cholesterol, ischaemic heart disease, and stroke: systematic review and meta-analysis. BMJ, 326, 2003, 1423.
17. 17 Walma, E.P., Visseren, F.L., Jukema, J.W., Kastelein, J.J., Hoes, A.W., Stalenhoef, A.F., [The practice guideline ‘Diagnosis and treatment of familial hypercholesterolaemia’ of the Dutch Health Care Insurance Board]. Ned Tijdschr Geneeskd 150 (2006), 18–23.
18. 18 Innerarity, T.L., Mahley, R.W., Weisgraber, K.H., et al. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res 31 (1990), 1337–1349.
19. 19 Cook, N.R., Use and misuse of the receiver operating characteristic curve in risk prediction. Circulation 115 (2007), 928–935.
20. 20 Jones, P.H., A clinical overview of dyslipidemias: treatment strategies. Am J Med 93 (1992), 187–198.
21. 21 Anonymous Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 303 (1991), 893–896.
22. 22 Futema, M., Plagnol, V., Li, K., et al. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet 51 (2014), 537–544.
23. 23 Guay, S.P., Brisson, D., Lamarche, B., Gaudet, D., Bouchard, L., Epipolymorphisms within lipoprotein genes contribute independently to plasma lipid levels in familial hypercholesterolemia. Epigenetics 9 (2014), 718–729.
24. 24 Kindt, I., Huijgen, R., Boekel, M., et al. Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands. Cholesterol, 2013, 2013, 531658.
25. 25 Vandrovcova, J., Thomas, E.R., Atanur, S.S., et al. The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. Genet Med 15 (2013), 948–957.
26. 26 Futema, M., Shah, S., Cooper, J.A., et al. Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries. Clin Chem 61 (2015), 231–238.