Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia

Atherosclerosis

Volumn 208, Issue 2, 2010, Pages 437-441

  Junyent, Mireia ^a,b   Gilabert, Rosa ^a   Jarauta, Estíbaliz ^c   Núñez, Isabel ^a,b   Cofán, Montserrat ^a,b   Civeira, Fernando ^c   Pocoví, Miguel ^d,e   Mallén, Miguel ^d,e   Zambón, Daniel ^a,b   Almagro, Fátima ^f   Vega, Juan ^f   Tejedor, Diego ^g   Ros, Emilio ^a,b  

^a HOSPITAL CLÍNIC   (Spain)

^b Instituto de Salud Carlos III   (Spain)

^c HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^d UNIVERSITY OF ZARAGOZA   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^f HOSPITAL DONOSTIA   (Spain)

^g Progenika Biopharma SA   (Spain)

Author keywords

Atheroma plaques; Carotid atherosclerosis; Familial hypercholesterolemia; Intima media thickness; Low density lipoprotein receptor mutations

Indexed keywords

EZETIMIBE; FIBRIC ACID DERIVATIVE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; AGE DISTRIBUTION; AGED; ARTERIAL WALL THICKNESS; ARTICLE; ATHEROSCLEROSIS; ATHEROSCLEROTIC PLAQUE; CAROTID ATHEROSCLEROSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE MARKER; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE SEQUENCE; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; NULL ALLELE; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; SPAIN;

EID: 75049083130     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2009.07.058     Document Type: Article

References (31)

1. Goldstein J.L., Hobbs H.H., and Brown M.S. Familial hypercholesterolemia. In: Scriver C.R., Baudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease (2001), McGraw-Hill, New York 2863-2913
2. Aalst-Cohen E., Jansen A.C., Tanck M., et al. Diagnosing familial hypercholesterolaemia: the relevance of genetic testing. Eur Heart J 27 (2006) 2240-2246
3. Jansen A.C., van Wissen S., Defesche J.C., and Kastelein J.J. Phenotypic variability in familial hypercholesterolemia: an update. Curr Opin Lipidol 13 (2002) 165-171
4. Austin M.A., Hutter C.M., Zimmern R.L., and Humphries S.E. Familial hypercholesterolemia and coronary heart disease: a HuGE association. Am J Epidemiol 160 (2004) 421-429
5. Leigh S.E., Foster A.H., Whittall R.A., Hubbart C.S., and Humphries S.E. Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet 72 (2008) 85-498
6. Koeijvoets K.C., Rodenburg J., Hutten B.A., Wiegman A., Kastelein J.J., and Sijbrands E.J. Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia. Substudy of an intima-media thickness trial. Circulation 112 (2005) 3168-3173
7. Koeijvoets K.C., Wiegman A., Rodenburg J., Defesche J.C., Kastelein J.J., and Sijbrands E.J. Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study. Atherosclerosis 180 (2005) 93-99
8. Humphries S.E., Whittall R.A., Hubbart C.S., et al. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. J Med Genet 43 (2006) 943-949
9. Souverein O.W., Defesche J.C., Zwinderman A.H., Kastelein J.J., and Tanck M.W. Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia. Eur Heart J 28 (2007) 299-304
10. Alonso R., Mata N., Castillo S., et al. Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis 200 (2008) 315-321
11. Bots M.L., Baldassarre D., Simon A., et al. Carotid intima-media thickness and coronary atherosclerosis: weak or strong relations?. Eur Heart J 28 (2007) 398-406
12. Wendelhag I., Wiklund O., and Wikstrands J. Arterial wall thickness in familial hypercholesterolemia. Ultrasound measurement of intima-media thickness in the common carotid artery. Arterioscler Thromb 12 (1992) 70-77
13. Tonstad S., Joakimsen O., Stensland-Bugge E., Ose L., Bonaa K.H., and Leren T.P. Carotid intima-media thickness and plaque in patients with familial hypercholesterolemia mutations and control subjects. Eur J Clin Invest 28 (1998) 971-979
14. Descamps O.S., Gilbeau J.P., Leysen X., Van Leuven F., and Heller F.R. Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia. Eur J Clin Invest 31 (2001) 958-965
15. Taira K., Bujo H., Kobayashi J., Takahashi K., Miyazaki A., and Saito Y. Positive family history for coronary heart disease and 'midband lipoproteins' are potential risk factors of carotid atherosclerosis in familial hypercholesterolemia. Atherosclerosis 160 (2002) 391-397
16. Sidhu P.S., Naoumova R.P., Maher V.M., et al. The extracranial carotid artery in familial hypercholesterolaemia: relationship of intimal-medial thickness and plaque morphology with plasma lipids and coronary heart disease. J Cardiovasc Risk 3 (1996) 61-67
17. Wittekoek M.E., de Groot E., Prins M.H., Trip M.D., Büller H.R., and Kastelein J.J. Differences in intima-media thickness in the carotid and femoral arteries in familial hypercholesterolemic heterozygotes with and without clinical manifestations of cardiovascular disease. Atherosclerosis 146 (1999) 271-279
18. Junyent M., Cofán M., Núñez I., Gilabert R., Zambón D., and Ros E. Influence of the HDL cholesterol level on preclinical carotid atherosclerosis in familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 26 (2006) 1107-1113
19. Junyent M., Gilabert R., Zambón D., et al. Femoral atherosclerosis in heterozygous familial hypercholesterolemia. Influence of the genetic defect. Arterioscler Thromb Vasc Biol 28 (2008) 580-586
20. Smilde T.J., van Wissen S., Wollersheim H., Trip M.D., Kastelein J.J., and Stalenhoef A.F. Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomized, double-blind trial. Lancet 357 (2001) 577-581
21. Hoeg J.M., Feuerstein I.M., and Tucker E.E. Detection and quantitation of calcific atherosclerosis by ultrafast computed tomography in children and young adults with homozygous familial hypercholesterolemia. Arterioscler Thromb 14 (1994) 1066-1074
22. Pocovi M., Civeira F., Alonso R., and Mata P. Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. Semin Vasc Med 4 (2004) 67-74
23. Mozas P., Castillo S., Tejedor D., et al. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. Hum Mutat 24 (2004) 187
24. Tejedor D., Castillo S., Mozas P., et al. Comparison of DNA array platform vs. DNA sequencing as genetic diagnosis tools for familial hypercholesterolemia. Clin Chem 52 (2006) 1971-1972
25. Holla Ø., Nakken S., Mattingsdal M., et al. Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: comparison of wet-lab and bioinformatics analyses. Mol Genet Metab 96 (2009) 245-252
26. Lorenz M.W., Markus H.S., Bots M.L., Rosvall M., and Sitzer M. Prediction of clinical cardiovascular events with carotid intima-media thickness: a systematic review and meta-analysis. Circulation 115 (2007) 459-467
27. Stary H.C., Chandler A.B., Glagov S., et al. A definition of initial, fatty streak, and intermediate lesions of atherosclerosis. A report from the Committee on Vascular Lesions of the Council on Arteriosclerosis, American Heart Association. Circulation 89 (1994) 2462-2478
28. Holven K.B., Myhre A.M., Aukrust P., Hagve T.A., Ose L., and Nenseter M.S. Patients with familial hypercholesterolaemia show enhanced spontaneous chemokine release from peripheral blood mononuclear cells ex vivo. Dependency of xanthomas/xanthelasms, smoking and gender. Eur Heart J 24 (2003) 1756-1762
29. Artieda M., Cenarro A., Junquera C., et al. Tendon xanthomas in familial hypercholesterolemia are associated with a differential inflammatory response of macrophages to oxidized LDL. FEBS Lett 579 (2005) 4503-4512
30. Humphries S.E., Norbury G., Leigh S., Hadfield S.G., and Nair D. What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?. Curr Opin Lipidol 19 (2008) 362-363
31. Tybjaerg-Hansen A., Jensen H.K., Nenn M., Steffensen R., Jensen G., and Nordestgaard B.G. Phenotype of heterozygous for low-density lipoprotein receptor mutations identified in different background populations. Arterioscler Thromb Vasc Biol 25 (2005) 211-215