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Titolo:
EFFECT OF THE STUI POLYMORPHISM IN THE LDL RECEPTOR GENE (ALA-370 TO THR) ON LIPID-LEVELS IN HEALTHY-INDIVIDUALS
Autore:
GUDNASON V; PATEL D; SUN XM; HUMPHRIES S; SOUTAR AK; KNIGHT BL;
Indirizzi:
UNIV COLL & MIDDLESEX SCH MED,RAYNE INST,DEPT MED,CTR GENET CARDIOVASC DISORDERS,5 UNIV ST LONDON WC1E 6JJ ENGLAND HAMMERSMITH HOSP,MRC,LIPOPROT TEAM LONDON W12 0HS ENGLAND
Titolo Testata:
Clinical genetics
fascicolo: 2, volume: 47, anno: 1995,
pagine: 68 - 74
SICI:
0009-9163(1995)47:2<68:EOTSPI>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
LOW-DENSITY-LIPOPROTEIN; CORONARY HEART-DISEASE; HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA; APOLIPOPROTEIN-E POLYMORPHISM; CULTURED FIBROBLASTS; CHOLESTEROL LEVELS; DNA POLYMORPHISM; PLASMA-LEVELS; LOCUS; MUTATIONS;
Keywords:
LDL CHOLESTEROL LEVELS; LDL RECEPTOR; PCR; RFLP;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
44
Recensione:
Indirizzi per estratti:
Citazione:
V. Gudnason et al., "EFFECT OF THE STUI POLYMORPHISM IN THE LDL RECEPTOR GENE (ALA-370 TO THR) ON LIPID-LEVELS IN HEALTHY-INDIVIDUALS", Clinical genetics, 47(2), 1995, pp. 68-74

Abstract

We have examined the effect on plasma lipid levels of a single base change in exon 8 of the LDL receptor gene that causes an amino acid change Ala 370 to Thr in a sample of 318 Icelandic individuals selected at random from the general population. The change destroys a StuI restriction site and was detected by digestion of pooled samples in groups of 5. The frequency of the loss of the cutting site was 0.05 (95%CI=0.014-0.054). In men, those with the Thr allele (n=18) had 8.3% higher total cholesterol, 11.8% higher LDL cholesterol and 10.3% higher apolipoprotein B than those with the common Ala allele, whereas in women those with the Thr allele (n=12) had levels lower by 7.4%, 13.3% and 10.1% respectively. These differences reached statistical significance only in the men (p<0.05). Functional analysis of CHO cells transfected with constructs of the LDL receptor cDNA carrying the Ala370 and Thr370 alleles showed that within the limits of the assays there was no difference in function of the LDL receptor protein as measured by uptake and degradation of LDL. The data raise the possibility that amino acid substitutions that could affect LDL receptor function below the limits of detection by conventional assays, may have an effect on plasma lipid levels in the general population.

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Documento generato il 04/12/20 alle ore 13:11:35