Influence of FH Valencia 1 and 2 mutations of the LDL receptor gene on the response to simvastatin in subjects with molecularly defined heterozygous familial hypercholesterolemia in Spain;Influencia de las mutaciones HF Valencia 1 y 2 del gen del receptor de LDL sobre la respuesta terapéutica a simvastatina en sujetos con hipercolesterolemia familiar heterocigota caracterizada molecularmente

Medicina Clinica

Volumn 116, Issue 3, 2001, Pages 81-85

  Real, José T ^a   Chavesa, Felipe J ^b   Civera, M ^a   García Garcíaa, Ana B ^b   Ascaso, Juan F ^a   Armengoda, Mara E ^a   Carmena, Rafael ^a  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^b CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

Author keywords

Heterozygous familial hypercholesterolemia; LDL receptor gene mutation; Null mutations; Treatment with simvastatin

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR; SIMVASTATIN;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DRUG RESPONSE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; RANDOMIZED CONTROLLED TRIAL; SPAIN;

EID: 0035956620     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0025-7753(01)71731-9     Document Type: Article

References (34)

1. Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science 1986; 232: 34-47.
2. Hobbs H, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992; 1: 445-466.
3. Volh MC, Gaudet D, Moorjani S, Tremblay G, Perron P, Hagne C et al. Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French-Canadian patients heterozygous for familial hypercholesterolemia. Eur J Clin Invest 1997; 27: 366-373.
4. Hoeg JM. Homozygous familial hypercholesterolemia: a paradigm for phenotypic variation. Am J Cardiol 1993; 72: 11D-14D.
5. Kotze MJ, De Villiers WJS, Stein K, Kriek JA, Marais AD, Langenhoven E et al. Phenotypic variation among familial hypercholesterolemic heterozygous for either one of two Afrikaner founder LDL receptor mutations. Arterioscler Thromb 1993; 13: 1460-1468.
6. Ward AJ, O'Kane M, Nicholls DP, Young IS, Nevin NC, Graham CA. A novel single base deletion in the LDLR gene (211delG): effect on serum lipid profiles and the influence of other genetic polymorphism in the ACE gene, apoE and apoE genes. Atherosclerosis 1996; 120: 83-91.
7. Gudnason V Day INM, Humphries SE. Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia. Arterioscler Thromb 1994; 17: 1717-1722.
8. Vuorio AF, Ojala JP, Sarna S, Turtola H, Tikkanen MJ, Kontula K. 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; 1: 43-48.
9. Tilzer L, Thomas S, Moreno RF. Use of silica gel polymer for DNA extraction with organic solvents. Anal Biochem 1989; 183: 13-15.
10. Allain CC, Poon LS, Chan CSG, Richmond W, Fu PC. Enzymatic determination of total serum cholesterol. Clin Chem 1974; 20: 470-475.
11. Ter Welle HF, Baartscheer T, Fiolet JWT. Influence of free glycerol on enzymatic evaluation of triglycerides. Clin Chem 1984; 30: 1102-1103.
12. Burstein M, Scholnick HR, Morfin R. Rapid method for the isolation of lipoproteins from human serum by precipitation with polyanions. J Lipid Res 1970; 11: 583-595.
13. Havel RJ, Eder HJ, Bragdon JH. The distribution and chemical composition of centrifugally separated lipoproteins in human serum. Eur J Clin Invest 1995; 34: 1345-1354.
14. Rosseneu M, Vercaemst R, Steinberg KK, Cooper GR. Some considerations of methodology and standarization of apolipoprotein B immunoassays. Clin Chem 1983; 29: 427-433.
15. Real JT, Chaves FJ, Ascaso JF, Armengod ME, Carmena R. Estudio del defecto familiar de la apo B-100 en sujetos con el diagnóstico clinico de hipercolesterolemia primaria: identificación de la primera familia afectada en España. Med Clin (Barc) 1999; 113: 15-17.
16. Chaves FJ. Diagnóstico genético de la hipercolesterolemia familiar en España (tesis doctoral). Valencia, 1996.
17. Chaves FJ, Real J, Puig O, Ascaso JF, Teruel JL, Lasunción MA et al. Hipercolesterolemia familiar: identificación y caracterización del primer homozigoto compuesto español. Med Clin (Barc) 1998; 110: 300-302.
18. Chaves FJ, Puig O, García-Sogo M, Real J, Gil JV, Ascaso J et al. Seven DNA polymorphisms in the LDL receptor gene: application to the study of familial hypercholesterolemia in Spain. Clin Genet 1996; 50: 28-35.
19. Leren TP, Hjermann I. Is responsiveness to lovastatin in familial hypercholesterolaemia influenced by the specific mutation in the low density lipoprotein receptor gene? Eur J Clin Invest 1995; 25: 967-973.
20. Hixon JE, Vernier DT. Restriction isotyping of hurnan apolipoprotein E by gene amplification and cleavage with Hhal. J Lipid Res 1990; 31: 545-548.
21. Sun XM, Neuwirth C, Patel DD, Knight BL, Soutar AK, with the Familial Hypercholesterolemia Regression study group. Influence of genotype at the low density lipoprotein receptor gene locus o the clinical phenotype and response to lipid lowering drug therapy in heterozigous familial hypercholesterolemia. Atherosclerosis 1998; 136: 175-185.
22. Leilersdorf E, Eisenberg E, Eliav O, Friedlanger Y, Berkman M, Dann EJ et al. Genetic determinants of responsiveness to HMG-CoA reductase inhibitor fluvastatin in patients with molecularly defined heterozygous familial hypercholesterolemia. Circulation 1993; 87: 35-44.
23. Sijbrands EJG, Lombardi MP, Westendorp RGJ, Leuven JAG, Meinders AE, Van der Lasse et al. Similar response to simvastatin in patients heterozigous for familial hypercholesterolemia with mRNA negative and mRNA positive mutations. Atherosclerosis 1998; 136: 247-254.
24. Moorjani S, Roy M, Torres A, Bétard C, Gagné C, Lambert M et al. Mutations of low density lipoprotein receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia. Lancet 1993; 341: 1303-1306.
25. Couture P, Brun LD, Szots F, Leliévre M, Gaudet D, Després JP et al. Association of specific LDL receptor gene mutations with differential plasma lipoprotein response to simvastatin in young French Canadians with heterozigous familial hypercholesterolemia. Arterisocler Thromb Vasc Biol 1998; 18: 1007-1012.
26. Jeenah M, September W, Graadt van Roggen F, De Villiers W, Seftel H, Marais D. Influence of specific mutations at the LDL-receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolemia. Atherosclerosis 1993; 98: 51-58.
27. Bétard C, Kessing AM, Roy M, Davignon J. Infuence of genetic variability in the nondeletion LDL receptor allele on phenotypic variation in French Canadian familial hypercholesterolemia heterozygotes sharing a «null» LDL receptor gene defect. Atherosclerosis 1996; 119: 43-45.
28. Carmena R, Roeder G, Mailloux H, Lussier-Cancan S, Davignon J. The response to lovastatin treatment in patients with heterozygous familial hypercholesterolemia is modulated by apolipoprotein E polymorphism. Metebolism 1993; 42: 895-901.
29. Ordovás JM, López-Miranda J, Pérez-Jiménez F, Rodriguez C, Park JS, Cole T et al. Effect of apoipoprotein E and A-IV phenotypes on the low density lipoprotein response to HMG CoA reductase inhibitors therapy. Atherosclerosis 1995; 113: 157-166.
30. O'Malley JP, Illinworth DR. The influence of apolipoprotein E phenotype on the response to lovastatin therapy in patients with heterozygous familial hypercholesterolemia. Metabolism 1990; 39: 150-154.
31. De Knijff P, Stalenhoef AFH, Mol MJTM, Gevers Leivern JA, Smit J, Erkelens DW et al. Influence of apo E polymorphism on the response to simvastatin treatment in patients with heterozygous familial hypercholesterolemia. Atherosclerosis 1990; 63: 89-97.
32. Bowler A, Rodgrave TG, Mario JCL. Chylomicron remnants clearance in homozygote and heterozygote Watanabe hereditable hyperlipidemic rabbits s defective. Lack of evidence for an independent chylomicron remnant receptor. Biochem J 1991; 275: 381-386.
33. Mario JCL, Smith D, Yu JCW et al. Accumulation of chylomicron remnants in homozygous subjects with familial hypercholesterolemia. Eur J Clin Invest 1998; 28: 379-384
34. Castro-Cabezas H, De Bruin TWA, Westerveld KE et al Delayed chylomicron remnants clearance in subjects with heterozygous familial hypercholesterolemia. J Int Med 1998; 244. 299-307.