Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: A parent-offspring study

Atherosclerosis

Volumn 180, Issue 1, 2005, Pages 93-99

  Koeijvoets, Kristel C M C ^a   Wiegman, Albert ^b   Rodenburg, Jessica ^b   Defesche, Joep C ^b   Kastelein, John J P ^b   Sijbrands, Eric J G ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Cardiovascular disease; Children; Familial hypercholesterolemia; Genotype phenotype relation; LDL receptor mutations

Indexed keywords

LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CHILD; COMPARATIVE STUDY; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; NULL ALLELE; PARENT; PHENOTYPE; PRIORITY JOURNAL; PROGENY; STATISTICAL SIGNIFICANCE;

EID: 17044422041     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2004.10.042     Document Type: Article

References (23)

1. M.S. Brown, and J.L. Goldstein A receptor-mediated pathway for cholesterol homeostasis Science 232 1986 34 47
2. E.J.G. Sijbrands, R.G.J. Westendorp, and M.P. Lombardi Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia Atherosclerosis 149 2000 421 425
3. LDL receptor mutation catalogue: http://www.ucl.ac.uk/fh.
4. H.H. Hobbs, M.S. Brown, and J.L. Goldstein Molecular genetics of the LDL receptor gene in familial hypercholesterolemia Hum Mutat 1 1992 445 466
5. V. Gudnason, I.N.M. Day, and S.E. Humphries Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia Arterioscler Thromb 14 1994 1717 1722
6. E.J.G. Sijbrands, M.P. Lombardi, and R.G.J. Westendorp Similar response to simvastatin in patients heterozygous for familial hypercholesterolemia with mRNA negative and mRNA positive mutations Atherosclerosis 136 1998 247 254
7. S. Bertolini, A. Cantafora, and M. Averna Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype Arterioscler Thromb Vasc Biol 20 2000 e41 e52
8. M.A.W. Umans-Eckenhausen, E.J.G. Sijbrands, J.J.P. Kastelein, and J.C. Defesche Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population Circulation 106 2002 3031 3036
9. D. Gaudet, M.-C. Vohl, and P. Couture Contribution of receptor negative versus receptor defective mutations in the LDL-receptor gene to angiographically assessed coronary artery disease among young (25-49 years) versus middle-aged (50-64 years) men Atherosclerosis 143 1999 153 161
10. S. Tonstad, O. Joakimsen, and E. Stensland-Bugge Carotid intima-media thickness and plaque in patients with familial hypercholesterolaemia mutations and control subjects Eur J Clin Invest 28 1998 971 979
11. K.L. Khoo, P. van Acker, and J.C. Defesche Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia Clin Genet 58 2000 98 105
12. A.F. Vuorio, J.-P. Ojala, and S. Sarna Heterozygous familial hypercholesterolaemia: the influence of the mutation type of the low-density-lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment J Intern Med 237 1995 43 48
13. M.J. Kotze, W.J.S. de Villiers, and K. Steyn Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations Arterioscler Thromb 13 1993 1460 1468
14. 66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark Atherosclerosis 120 1996 57 65
15. E.J.G. Sijbrands, R.G.J. Westendorp, and J.C. Defesche Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study BMJ 322 2001 1019 1023
16. M.A.W. Umans-Eckenhausen, J.C. Defesche, E.J.G. Sijbrands, R.L.J.M. Scheerder, and J.J.P. Kastelein Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands Lancet 357 2001 165 168
17. A. Wiegman, J. Rodenburg, and S. de Jongh Family history and cardiovascular risk in familial hypercholesterolemia: data in more than 1000 children Circulation 107 2003 1473 1478
18. W.T. Friedewald, F. Levy, and D.S. Frederickson Estimation of the concentration of the low-density lipoprotein cholesterol in plasma without the use of preparative ultra centrifugation Clin Chem 18 1972 499 509
19. S.W. Fouchier, J.C. Defesche, M.A.W. Umans-Eckenhausen, and J.J.P. Kastelein The molecular basis of familial hypercholesterolemia in The Netherlands Hum Genet 109 2001 602 615
20. M.J. Khoury, T.H. Beaty, and B.H. Cohen Fundamentals of genetic epidemiology 1993 Oxford University Press Oxford p. 273
21. A.L. Torres, S. Moorjani, and M.-C. Vohl Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations Atherosclerosis 126 1996 163 171
22. H.K. Jensen, T.G. Jensen, and O. Faergeman Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia Hum Mutat 9 5 1997 437 444
23. Castillo S, Reyes G, Tejedor D, et al. On behalf of the Spanish Group of FH. A double mutant [N543H + 2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease. Hum Mutat 2002 (mutation in brief #558, online).