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Titolo:
INFLUENCE OF GENOTYPE AT THE LOW-DENSITY-LIPOPROTEIN (LDL) RECEPTOR GENE LOCUS ON THE CLINICAL PHENOTYPE AND RESPONSE TO LIPID-LOWERING DRUG-THERAPY IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Autore:
SUN XM; PATEL DD; KNIGHT BL; SOUTAR AK;
Indirizzi:
HAMMERSMITH HOSP,MRC,LIPOPROT TEAM,DU CANE RD LONDON W12 0NN ENGLAND HAMMERSMITH HOSP,MRC,LIPOPROT TEAM LONDON W12 0NN ENGLAND
Titolo Testata:
Atherosclerosis
fascicolo: 1, volume: 136, anno: 1998,
pagine: 175 - 185
SICI:
0021-9150(1998)136:1<175:IOGATL>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
COA REDUCTASE INHIBITORS; MUTATION; RESPONSIVENESS; DISEASE; DETERMINANTS; CHOLESTEROL; SIMVASTATIN; LOVASTATIN; DELETION;
Keywords:
MUTATION; LYMPHOBLASTS; LDL-RECEPTOR ACTIVITY; CORONARY ARTERY DISEASE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
23
Recensione:
Indirizzi per estratti:
Citazione:
X.M. Sun et al., "INFLUENCE OF GENOTYPE AT THE LOW-DENSITY-LIPOPROTEIN (LDL) RECEPTOR GENE LOCUS ON THE CLINICAL PHENOTYPE AND RESPONSE TO LIPID-LOWERING DRUG-THERAPY IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA", Atherosclerosis, 136(1), 1998, pp. 175-185

Abstract

The relationship between molecular defect and clinical phenotype has been examined in 42 patients with heterozygous familial hypercholesterolaemia (FH) and premature coronary heart disease. The defined defectsincluded mutations in the low density lipoprotein (LDL)-receptor gene(23/42) or the apolipoprotein B Arg3500Gln mutation (5/42). Mean LDL-cholesterol was higher, both before and during treatment with simvastatin and bile acid sequestrants, in patients predicted as having a 'severe' mutation than in those with a 'mild' mutation (8.72 +/- 2.02 mmol/l vs 6.63 +/- 1.8, P = 0.05 before and 4.51 +/- 0.90 mmol/l vs 3.19 +/- 0.58, P = 0.05 during treatment). Maximum inducible LDL-receptor activity in cultured lymphoblasts was inversely correlated with LDL-cholesterol before (r(2) = 0.499, P = 0.002) and during (r(2) = 0.478, P =0.004) treatment in patients with a defined mutation in the LDL-receptor gene, but not in the 14 patients with no detectable molecular defect. LDL-cholesterol concentrations before and during treatment were significantly correlated in patients with a defined LDL-receptor gene mutation (r(2) = 0.548, P = 0.0001), but not in those with no detectablegenetic defect. All these correlations were weak, however and there were no differences in the response to treatment in terms of either relative reduction or absolute decrease in LDL-cholesterol concentration between patients with different LDL-receptor defects. We conclude thatonly part of the variable phenotype of heterozygous FH patients is explained by different LDL-receptor defects and that other factors determine the severity of their hypercholesterolaemia and the onset of coronary disease. (C) 1998 Elsevier Science Ireland Ltd.

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Documento generato il 04/12/20 alle ore 22:33:59