Clinical and biochemical characteristics of familial ligand-defective apo B-100 in South European population;Estudio del defecto familiar de unión de la apolipoproteína B100 en una población mediterránea

Medicina Clinica

Volumn 123, Issue 12, 2004, Pages 456-459

  Ejarque, Ismael ^a   Real, José T ^a   Chaves, Felipe J ^a   Blesa, Sebastián ^a   González, Veronica ^a   Milian, Enrique ^b   Ascaso, Juan F ^a   Priego, María A ^a   Carmena, Rafael ^a  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^b Hospital Clinico Universitario ^*

Author keywords

Familial ligand defective apo B100; Founder effect; Heterozygous familial hypercholesterolemia; Lipoprotein phenotype

Indexed keywords

APOLIPOPROTEIN; APOLIPOPROTEIN A1; APOLIPOPROTEIN B; APOLIPOPROTEIN B100; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADULT; AGED; ARTICLE; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; CONTROLLED STUDY; EUROPE; FAMILIAL DISEASE; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILIAL LIGAND DEFECTIVE APOLIPOPROTEIN B100; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; ISCHEMIC HEART DISEASE; LIPID BLOOD LEVEL; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PREVALENCE; RURAL AREA; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; XANTHOMA;

EID: 8644267517     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: 10.1157/13067091     Document Type: Article

References (31)

1. Myant NB. Familial defective apolipoprotein B-100: a review, including some comparison with familial hypercholesterolemia. Atherosclerosis 1993;104:1-18.
2. Rauh G, Keller C, Schuster H, Wolfgram G, Zöllner N. Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia. Clin Investig 1992;70:77-84.
3. Pullinger CR, Hennessy LK, Chatterton JE, Liu W, Love JA, Mendel CM, et al. Familial ligand-defective apolipoprotein B: identification of a new mutation that decreases LDL receptor binding affinity. J Clin Invest 1995;95:1225-34.
4. Gaffney D, Reid JM, Cameron IM, Vass K, Caslake MJ, Shepherd J, et al. Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidaemia. Arterioscle Thromb Vasc Biol 1995;15:1025-9.
5. th ed. New York: McGraw-Hill, 2001; p. 2863-913.
6. Hobbs H, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992;1:445-66.
7. Real JT, Chaves FJ, Ascaso JF, Armengod ME, Carmena R. Estudio del defecto familiar de la apo B-100 en sujetos con el diagnóstico clínico de hipercolesterolemia primaria: identificación de la primera familia afectada en España. Med Clin (Barc) 1999;113:15-7.
8. Castillo S, Tejedor D, Mozas P, Reyes G, Civeira F, Alonso R, et al. The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia. Atherosclerosis 2002;165:127-35.
9. Real JT, Chaves JF, Martín de Llano JJ, Ejarque I, García-García AB, Knecht E, et al. Identificación y caracterización del primer homocigoto español con defecto familiar de union de la apolipoproteína B. Med Clin (Barc) 2001;116:138-41.
10. Chaves FJ, Real JT, García-García AB, Civera M, Armengod ME, Ascaso JF, et al. Genetic diagnosis of familial hypercholesterolemia in a south European outbreed population: influence of low density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL and high density lipoprotein cholesterol. J Clin Endocrinol Metab 2001;86:4926-32.
11. Allain CC, Poon LS, Chan CSG, Richmond W, Fu PC. Enzymatic determination of total serum cholesterol. Clin Chem 1974;20:470-5.
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;11:583-95.
13. Havel RJ, Eder HJ, Bragdon JH. The distribution and chemical composition of centrifugally separated lipoproteins in human serum. Eur J Clin Invest 1995;34:1345-54.
14. Rosseneu M, Vercaemst R, Steinberg KK, Cooper GR. Some considerations of methodology and standarization of apolipoprotein B immunoassays. Clin Chem 1983;29:427-33.
15. Tilzer L, Thomas S, Moreno RF. Use of silica gel polymer for DNA extraction with organic solvents. Anal Biochem 1989;183:13-5.
16. García-García AB, Real JT, Puig O, Cebolla E, Marín-García P, Martínez-Ferrandiz JL, et al. Molecular genetics of familial hipercholesterolemia in Spain: ten novel LDLR mutations and population analysis. Hum Mutat 2001;454:1-9.
17. Chaves FJ, Real JT, García-García AB, Puig O, Ordovás JM, Ascaso JF, et al. Large rearrangements of the LDL receptor gene and lipid profile in a Spanish population. Eur J Clin Invest 2001;31:309-17.
18. Hixon JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hhal. J Lipid Res 1990;31:545-8.
19. Ludwig EH, McCarthy BJ. Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100. Am J Hum Genet 1990;47:712-20,
20. Corella D, Guillén M, Portoles O, Sorli JV, Alonso V, Folch J, et al. Gender specific association of the Trp64Arg mutation in the beta3-adrenargic receptor gene with obesity related phenotypes in a Mediterranean population: interaction with a common lipoprotein gene variation. J Intern Med 2001;250:348-60.
21. Cenarro A, Jensen HK, Civeira F, Casao E, Ferrando J, González Bonillo J, et al. Two novel mutations in the LDL receptor gene: common cause of familial hypercholesterolemia in a Spanish population. Clin Genet 1996;49:180-3.
22. Mozas P, Cenarro A, Civeira F, Castillo S, Ros E, Pocovi M. Mutation analysis in 36 unrelated Spanish subjetcs with familial hypercholesterolemia: identification of 3 novel mutations in LDL receptor gene. Hum Mutat 2000;15:483-4.
23. Miserez AR, Keller U. Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 1995;15:1719-29.
24. Myant NB, Forbes SA, Day IN, Gallagher J. Estimation of the age of the ancestral arginine3500 → glutamine mutation in human apoB-100. Genomics 1997;45:78-87.
25. Schuster H, Rauh G, Kormann B, Hepp T, Humphries S, Keller C, et al. Familial defective apolipoprotein B 100: comparison with familial hypercholesterolemia in 18 cases detected in Munich. Arteriosclerosis 1990;10:577-81.
26. Gallagher JJ, Myant NB, Variable expression of the mutation in familial defective apolipoprotein B-100. Arterioscler Thromb 1993;13:973-6.
27. März W, Ruzicka V, Phol T, Usadel KH, Gross W. Familial defective apolipoprotein B-100: mild hypercholesterolemia without atherosclerosis in a homozygous patient. Lancet 1992;340:1362.
28. Schaefer JR, Scharngl H, Baumstark MW, Schweer H, Zech LA, Seyberth H, et al. Homozygous familial defective apolipoprotein B 100. Enhaced removal of apolipoprotein E containing VLDLs and decreased production of LDLs. Arterioscler Thromb Vasc Biol 1997;17:348-53.
29. Pietzsch J, Wiedemann B, Julius U, Nitzsche S, Gehrisch S, Bergmann S, et al. Increased clearance of low density lipoprotein precursors in patients with heterozygous familial defective apolipoprotein B-100: a stable isotope approach. J Lipid Res 1996;37:2074-87.
30. Schaefer JR, Winkler K, Schweer H, Hoffmann MM, Soufi M, Scharnagl H, et al. Increased production of HDL ApoA-I in homozygous familial defective apoB-100, Arterioscler Thromb Vasc Biol 2000;20:1796-9.
31. Abbasi F, Brown BW Jr, Lamendola C, McLaughlin T, Reaven GM. Relationship between obesity, insulin resistance, and coronary heart disease risk. J Am Coll Cardiol 2002;40:937-43.