Rare variant of apolipoprotein E (Arg136→Ser) in two normolipidemic individuals

Physiological Research

Volumn 54, Issue 5, 2005, Pages 573-575

  Hubacek J A ^a,b   Adamkova V ^a   Skodova Z ^a  

^a INSTITUTE FOR CLINICAL AND EXPERIMENTAL MEDICINE   (Czech Republic)

^b Cardiovascular Research Center   (Czech Republic)

Author keywords

Apolipoprotein E; Lipid metabolism; Rare mutation

Indexed keywords

APOLIPOPROTEIN E;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CAUCASIAN; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ENVIRONMENTAL FACTOR; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HEREDITY; HETEROZYGOTE; HUMAN; LIPID BLOOD LEVEL; LIPID METABOLISM; MALE; POPULATION GENETICS; RESTRICTION MAPPING;

ADULT; AGED; APOLIPOPROTEINS E; CZECH REPUBLIC; DNA MUTATIONAL ANALYSIS; DYSLIPIDEMIAS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; INCIDENCE; MALE; POLYMORPHISM, GENETIC; RARE DISEASES; RISK ASSESSMENT; RISK FACTORS; VARIATION (GENETICS);

EID: 27644511921     PISSN: 08628408     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. DAVIGNON J, GREGG RE, SING CF: Apolipoprotein E polymorphism and atherosclerosis. Atherosclerosis 8: 1-21, 1988.
2. GERDES LU, KLAUSEN IC, SIHN I, FAERGEMAN O: Apolipoprotein E polymorphism in a Danish population compared to findings in 45 other study populations around the world. Genet Epidemiol 9: 155-167, 1992.
3. HIXSON JE, VERNIER DT: Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31: 545-548, 1990.
4. HUBÁČEK JA, PIŤHA J, STAVEK P, SCHMITZ G, POLEDNE R: Variable expression of hypercholesterolemia in apolipoprotein E2* (Arg136→Cys) heterozygotes. Physiol Res 49: 307-314, 2000.
5. HUBÁČEK JA, PIŤHA J, ŠKODOVÁ Z, POLEDNE R: Rare variant of apolipoprotein E (Arg136→Cys) in a subject with normal lipid values. Physiol Res 51: 107-108, 2002.
6. HUBÁČEK JA, PIŤHA J, ADÁMKOVÁ V, ŠKODOVÁ Z, LÁNSKÁ V, POLEDNE R: Apolipoprotein E and apolipoprotein CI polymorphisms in the Czech population: almost complete linkage disequilibrium of the less frequent alleles of both polymorphisms. Physiol Res 52: 195-200, 2003.
7. MINNICH A, WEISGRABER KH, NEWHOUSE Y, DONG LM, FORTIN LJ, TREMBLAY M, DAVIGNON J: Identification and characterization of a novel apolipoprotein E variant, apolipoprotein E3′ (Arg136→His): association with mild dyslipidemia and double pre-beta very low density lipoproteins. J Lipid Res 36: 57-66, 1995.
8. POCOVI M, CENARRO A, CIVEIRA F, MYERS RH, CASAO E, ESTEBAN M, ORDOVAS JM: Incomplete dominance of type III hyperlipoproteinemia is associated with the rare apolipoprotein E2 (Arg136→Ser) variant in multigenerational pedigree studies. Atherosclerosis 122: 33-46, 1996.
9. ROLLERI M, VIVONA N, EMMANUELE G, CEFALU AB, PISCIOTTA L, GUIDO V, NOTO D, FIORE B, BARBAGALLO CM, NOTARBARTOLO A, TRAVALI S, BERTOLINI S, AVERNA MR: Two Italian kindreds carrying the Arg136→Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele. Nutr Metab Cardiovasc Dis 13: 93-99, 2003.
10. VIALETTES B, REYNIER P, ATLAN-GEPNER C, MEKKI N, LESLUYES-MAZZOCHI L, LUC G, LAIRON D, MALTHIERY Y: Dietary fat clearance in type V hyperlipoproteinaemia secondary to a rare variant of human apolipoprotein E: the apolipoprotein E3 (Arg 136→Ser). Br J Nutr 83: 615-622, 2000.
11. VRÁBLÍK M, HOŘÍNEK A, ČEŠKA R, ŠTULC T, KVASNIČKA T: Familial dysbetalipoproteinemia in three patients with apoE 2*(Arg136→Cys) gene variant. Physiol Res 52: 647-650, 2003.
12. WARDELL MR, BRENNAN SO, JANUS ED, FRASER R, CARRELL RW: Apolipoprotein E2-Christchurch (136 Arg→Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia. J Clin Invest 80: 483-490, 1987.