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J A Hubacek

Publications and source records attributed to J A Hubacek.

22 records · Page 2Linked to original sources
PubMed1999

(TTA)n repeat polymorphism in the HMG-CoA reductase gene and cholesterolaemia.

BACKGROUND: Hypercholesterolaemia is one of the main risk factors of atherosclerosis. Both environmental and genetic factors have been implicated in the development of hypercholesterolaemia. The enzyme hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase plays an important role in cholesterol synthesis. Thus we supposed that polymorphisms in this gene could influence cholesterolaemia. PATIENTS AND METHODS: Using PCR, we measured the (TTA)n repeat polymorphism near the Alu sequence of the gene for HMG-CoA reductase in two groups of children selected from opposite ends of the cholesterolaemia distribution curve obtained from measuring cholesterolaemia in 2000 children. Eighty-two children in high- and eighty-six children in low-cholesterolaemic groups participated on the study. RESULTS: A significant difference was found in the frequencies of the genotypes of the 10+ add alleles (43.9% in high-cholesterolaemic children vs 24.4% in low-cholesterolaemic children p < 0.025). No differences were demonstrated in the frequencies of other genotypes (allele 10+ even and without allele 10). No associations between lipid parameters and genotypes or genotype subgroups within the group of high- and low-cholesterolaemic children were found. CONCLUSION: The (TTA)n repeat polymorphism in the gene for HMG-CoA reductase could be another genetic marker that plays a role in the genetic determination of cholesterolaemia.

Child↗
PubMed1997

The genomic organization of the genes for human lipopolysaccharide binding protein (LBP) and bactericidal permeability increasing protein (BPI) is highly conserved.

We have determined the exon/intron organization of the human lipopolysaccharide binding protein (LBP) and bactericidal permeability increasing protein (BPI) genes. The LBP gene spans approximately 28.5 kb and is composed of 14 exons while the 31.5-kb-long BPI gene is composed of 15 exons. Comparison of the genomic organization of the LBP and BPI genes together with the genomic structures of the PLTP (phospholipid transfer protein) and CETP (cholesteryl ester transfer protein) genes, which all together constitute a gene family of functionally related proteins, revealed high homology with a remarkable conservation of exon/intron transitions. The exon/intron junctions of the LBP, BPI, and PLTP genes are almost identical, with most of the exons being of the same size. In addition, functional domains are conserved in these proteins. The C-terminal octapeptide important for CETP anchoring in lipoprotein particles is also present in LBP, BPI, and PLTP. The LPS binding motif in exons 3 and 4 has been retained in LBP and BPI. Our results indicate that the LBP, BPI, and PLTP genes, and probably the CETP gene, may have evolved from a common primordial gene and may share similar functional properties.

Acute-Phase Proteins↗
PubMedDate not supplied

Insertion/deletion polymorphism in the angiotensin-converting enzyme gene in myocardial infarction survivors.

INTRODUCTION: Insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene influenced the plasma concentration of the ACE, and is D allele have been repetitively suggested as a risk factor for myocardial infarction (MI). MATERIAL AND METHODS: Two hundert thirty six male myocardial infarction survivors under 65 years and with body mass index and total plasma cholesterol levels under 95% of the Czech population were included in the study. As control group, 302 male controls (1% randomly selected group from the Czech population) were genotyped. I/D polymorphism in the ACE gene was determined using polymerase chain reaction. RESULTS: The prevalence of the I/I, I/D and D/D genotypes was 0.218, 0.494 and 0.288, in the control group, and 0.178, 0.538 and 0.284, in the myocardial survivors, respectively. The male Czech population has the similar frequency of insertion and deletion alleles compared to other Caucasian populations. The frequencies of the alleles and genotypes of the ACE gene did not differ significantly between MI survivors and a control sample of the Czech population. CONCLUSION: It was shown that the I/D polymorphism in the gene for ACE is not a genetic risk factor for myocardial infarction in the Czech population.

Adult↗