Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study examines the potential influence of genetic variation on the metabolism of LDL. Restriction fragment length polymorphisms (RFLP) of the gene coding for apo B were identified using the endonucleases Xba I, Eco RI, and Msp I in a group of 19 subjects with moderate hyperlipidemia. There was a significant association between the Xba I polymorphism and the total fractional clearance rate (FCR) of LDL. The individuals with the X1X1 genotype had, on average, a 22% higher FCR (P less than 0.025) than those with the genotype X2X2 (X2 allele = presence of Xba I cutting site). This difference was attributable to increased clearance by the receptor-mediated pathway of LDL catabolism. In this group of subjects, there was no association of LDL kinetic parameters and RFLPs of the LDL receptor gene or the AI- CIII- AIV gene cluster. The data suggest that variation in apo B itself, presumably acting through variable binding to the LDL receptor, makes a significant contribution to the rate of catabolism of LDL.
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PMID:Catabolic rate of low density lipoprotein is influenced by variation in the apolipoprotein B gene. 290 32

Systematic sequencing of the coding and exon flanking regions of the apolipoprotein (apo) A-I gene has identified a new polymorphic Msp I site (C C/T-GG). This polymorphism is situated between the transcriptional starting site and the signal peptide start coding site (intron 1), so may influence the efficiency of surrounding splicing, thereby interfering with the expression of the apo A-I gene product, or serve as a linkage marker with a hitherto unidentified mutation defect responsible for hyperlipidemia and/or premature coronary heart disease. However, there was no significant difference in the allele frequencies between control and coronary heart disease subjects in a Japanese population. The -78 G-->A promoter polymorphism of apo A-I, previously reported in Western populations, has also been analyzed. The results show that neither mutation is likely to be the etiology for predisposition to a change of high-density lipoprotein cholesterol and/or variation in lipid and lipoprotein levels, or for the occurrence of coronary heart disease in Japanese populations.
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PMID:Analysis of a new polymorphism in the human apolipoprotein A-I gene: association with serum lipoprotein levels and coronary heart disease. 893 36

The individual benefits of dietary therapy for hyperlipidaemia are known to be unpredictable. Variants at the lipoprotein lipase gene have been shown to associate with atherogenic lipoprotein phenotypes and the delayed clearance of triglyceride-rich lipoproteins. Together with variants of the closely homologous hepatic lipase gene, these may influence the extent of amelioration of plasma lipoprotein concentrations seen in dyslipidaemic patients treated with a low saturates/low cholesterol diet. We correlated the lipid changes seen following an 8-week diet in 83 subjects with primary hypercholesterolaemia (fasting plasma cholesterol > 6.5 mmol/L) with alleles of three restriction polymorphisms (LPL-Hind III and Pvu II; HL-Msp I). Although dietary changes produced a significant improvement in fasting lipids [total cholesterol falling by 5.2% (range -27.9% to +24.3%) and low-density lipoprotein cholesterol reduced by 6.0% (-30.5% to +29.3%)], no significant difference in response between different genotypes could be detected.
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PMID:Dietary treatment of hypercholesterolaemia: lack of relationship between individual response and genetic variation at the lipase loci. The Fluvastatin Genotyping Group. 963 11