Gender differences in CAD have been clearly documented, and sex hormones have been recognized to influence the risk of CAD. The cytochrome P450c17alpha gene (CYP17) and the CYP19 gene influence concentrations of sex hormones. In this cross-sectional association study we tested the hypothesis whether the T/C polymorphism of the CYP17 gene and the tetranucleotide repeat (TTTA) polymorphism of the CYP19 gene are genetic markers for CAD in Caucasians. The TT genotype of the CYP17 gene polymorphism was not associated with premature CAD in men and women combined (OR 0.9; 95% CI = 0.6-1.4; P = 0.7), in men only (OR 1; 95% CI = 0.6-1.8; P = 0.7), and in women only (OR 0.8; 95% CI = 0.5-1.4; P = 0.4). The tetranucleotide repeat (TTTA) CYP19 gene polymorphism was not associated with premature CAD. Moreover, the genotypes containing the longer alleles (A6 or A7) were not associated with a lower incidence of CAD, and the genotypes containing the shorter alleles (A1 or A2) were not over-represented in the CAD patients. We may conclude that in Caucasian subjects neither the T/C CYP17 gene polymorphism nor the tetranucleotide repeat (TTTA) polymorphism of the CYP19 gene contributes to the genetic susceptibility to CAD, therefore they may not be used as genetic markers for CAD risk assessment.
- MeSH
- alely MeSH
- aromatasa genetika MeSH
- běloši genetika MeSH
- genetické markery genetika MeSH
- genotyp MeSH
- lidé středního věku MeSH
- lidé MeSH
- mikrosatelitní repetice genetika MeSH
- nemoci koronárních tepen etnologie genetika MeSH
- polymorfismus genetický * MeSH
- steroid-17-alfa-hydroxylasa genetika MeSH
- studie případů a kontrol MeSH
- věk při počátku nemoci MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- aromatasa MeSH
- genetické markery MeSH
- steroid-17-alfa-hydroxylasa MeSH
The PGC-1 gene has been implicated in the regulation of several genes controlling energy metabolism. The prevalent Gly482Ser polymorphism of the PGC-1 gene has been shown to be associated with type 2 diabetes in some but not all studies. The aim of this study was to analyse whether the Gly482Ser variant is a risk factor for development of type 2 diabetes in Slovene population (Caucasians). Genotyping of the Gly482Ser polymorphism was performed for 545 subjects: 305 patients with type 2 diabetes and 240 non-diabetic controls. The Gly482Ser genotype distribution in patients with type 2 diabetes (AA = 11.5%, AG = 42.3%, GG = 46.2%) differed from genotype distribution in non-diabetic controls (AA = 6.3%, AG = 46.3%, GG = 47.5%), and the AA genotype was associated with 1.9-times increased risk of type 2 diabetes (95% confidence interval 1.0-3.6; P = 0.036). In conclusion, we suggest that the AA genotype of the Gly482Ser polymorphism of the PGC-1 gene should be considered as a risk factor for the development of type 2 diabetes in Caucasians.
- MeSH
- běloši genetika MeSH
- diabetes mellitus 2. typu etnologie genetika MeSH
- frekvence genu MeSH
- genetická predispozice k nemoci * MeSH
- glycin genetika MeSH
- lidé MeSH
- polymorfismus genetický * MeSH
- rizikové faktory MeSH
- serin genetika MeSH
- studie případů a kontrol MeSH
- transkripční faktory genetika MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Slovinsko MeSH
- Názvy látek
- glycin MeSH
- peroxisome-proliferator-activated receptor-gamma coactivator-1 MeSH Prohlížeč
- serin MeSH
- transkripční faktory MeSH
Iron metabolism might be involved in the pathogenesis of CAD, and C282Y and H63D mutations in the HFE gene are associated with increased serum iron levels and net iron accumulation. The aim of this study was to look for a relationship between the C282Y and H63D gene mutations of the HFE gene and coronary artery disease (CAD) in a group of patients with type 2 diabetes lasting more than 10 years. The C282Y and H63D gene mutations were tested in 338 Caucasians with type 2 diabetes: 156 cases with CAD and 182 subjects with no history of CAD. The C282Y and the H63D HFE gene distributions in patients with CAD (C282Y: YY 0.6%, CY 9.0%, CC 90.4%; H63D: DD 3.8%, HD 21.8%, HH 74.4%) were not significantly different from those of diabetic subjects without CAD (C282Y: YY 0%, CY 8.2%, CC 91.8%; H63D: DD 2.2%, HD 20.3%, HH 77.5%). In conclusion, we failed to demonstrate that the C282Y and H63D HFE gene mutations were risk factors for CAD in Caucasians with type 2 diabetes lasting longer than 10 years.
- MeSH
- diabetes mellitus 2. typu komplikace genetika MeSH
- genetická vazba * MeSH
- hemochromatóza komplikace genetika MeSH
- lidé MeSH
- mutace genetika MeSH
- nemoci koronárních tepen etiologie genetika MeSH
- rizikové faktory MeSH
- železo metabolismus MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- železo MeSH
Genetic and environmental factors regulate lipid metabolism and phenotypic expression of CAD. In this study we assessed the effects of apoE gene polymorphism and apoA1 gene promoter polymorphism on lipid metabolism and risk for CAD. In a case-control study, 166 patients with CAD were compared with 130 healthy subjects. The apoE allele frequencies of patients vs. control group were 6.3% vs. 7.7% for e2, 84.3% vs. 84.6% for e3, and 9.4% vs. 7.7% for e4. Individuals with e3e4 and e4e4 genotypes had higher total (P = 0.023) and LDL cholesterol levels (P = 0.04) than individuals with other genotypes. There were no differences in lipid parameters between the subjects with the apoA1-GG genotype and subjects with AG or AA genotypes. However, univariate analysis revealed no association between risk genotypes (e3e4 and e4e4 genotypes) of apoE and CAD risk (OR = 1.1; 95% CI = 0.6-2.1, P = 0.8) as well as no association between the GG genotype and CAD risk (OR 0.7; 95% CI = 0.5-1.2, P = 0.19). No evidence for a synergistic interaction between e3e4 plus e4e4 genotypes and apoA1-GG genotype on CAD risk was found (OR = 1.3, 95% CI = 0.6-2.9; P = 0.5). One individual with familial defective apolipoprotein B-100 (Arg3500Gln) was found in each group. In conclusion, the apoE gene polymorphism affected the total and LDL cholesterol levels, whereas neither the apoE gene polymorphism nor the apoA-1 gene promoter polymorphism were shown to be independent risk factors for CAD in Slovenia.
- MeSH
- alely MeSH
- apolipoprotein A-I genetika MeSH
- apolipoproteiny E genetika MeSH
- cholesterol krev MeSH
- fenotyp MeSH
- frekvence genu MeSH
- genotyp MeSH
- HDL-cholesterol krev MeSH
- koronární nemoc krev genetika patofyziologie MeSH
- LDL-cholesterol krev MeSH
- lidé středního věku MeSH
- lidé MeSH
- lipidy krev MeSH
- polymorfismus genetický * MeSH
- promotorové oblasti (genetika) * MeSH
- referenční hodnoty MeSH
- rizikové faktory MeSH
- triglyceridy krev MeSH
- věk při počátku nemoci MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- apolipoprotein A-I MeSH
- apolipoproteiny E MeSH
- cholesterol MeSH
- HDL-cholesterol MeSH
- LDL-cholesterol MeSH
- lipidy MeSH
- triglyceridy MeSH
