ABSTRACT
In this study we investigated the association of the interleukin-1 receptor antagonist gene variable number tandem repeat (IL1RN VNTR) polymorphism and of the inhibitor of kappa B-like protein (IKBL) gene polymorphism with myocardial infarction (MI) in a group of patients with type 2 diabetes. The IL1RN VNTR and the IKBL+ 738T > C gene polymorphisms were tested in 374 Caucasians: 151 cases with MI and 223 subjects with no history of coronary artery disease. The IL1RN VNTR polymorphism was not a risk factor for MI in Caucasians with type 2 diabetes (genotype 22 vs. the rest: odds ratio (OR) 1.6; 95% confidence interval (CI) = 0.8-3.5; p = 0.2). We also failed to demonstrate that IKBL+ 738T > C gene polymorphism was associated with MI in patients with type 2 diabetes (OR = 0.9; 95% CI = 0.3-2.6; p = 0.9). We provide evidence that the IL1RN VNTR and the IKBL + 738T > C gene polymorphisms are not risk factors for MI in Caucasians with type 2 diabetes.
Subject(s)
Diabetes Mellitus, Type 2/epidemiology , Diabetes Mellitus, Type 2/genetics , Histocompatibility Antigens Class II/genetics , Interleukin 1 Receptor Antagonist Protein/genetics , Myocardial Infarction/epidemiology , Myocardial Infarction/genetics , Adaptor Proteins, Signal Transducing , Aged , Female , Genetic Predisposition to Disease/epidemiology , Humans , Male , Middle Aged , Polymorphism, Genetic , Risk Factors , Slovenia/epidemiologyABSTRACT
The aim of this study was to find out whether C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with male infertility and whether the prevalence of the HFE mutations is higher in a group of 262 infertile men in comparison to 200 fertile men. Because the C282Y and H63D HFE gene distributions in infertile men were not significantly different from fertile controls, our data suggest that the C282Y and H63D HFE gene mutations are not risk factors for male infertility and are not associated with clinical manifestations of male infertility.
Subject(s)
Hemochromatosis/epidemiology , Hemochromatosis/genetics , Histocompatibility Antigens Class I/genetics , Infertility, Male/epidemiology , Infertility, Male/genetics , Membrane Proteins/genetics , Adult , Comorbidity , DNA Mutational Analysis , Genetic Predisposition to Disease/epidemiology , Genetic Predisposition to Disease/genetics , Hemochromatosis Protein , Humans , Male , Mutation , Prevalence , Risk Assessment/methods , Risk Factors , SloveniaABSTRACT
BACKGROUND: It has been suggested that iron metabolism may be involved in the pathogenesis of atherothrombotic cerebral infarction (ACI). The C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with increased serum iron levels and net iron accumulation. The aim of this study was to test the hypothesis that the C282Y and H63D mutations in the HFE gene are risk factors for ACI in a Slovene population. MATERIAL/METHODS: The C282Y and H63D HFE gene mutations were tested in 96 Caucasian patients who had suffered an acute cerebral infarction, later confirmed as ACI, and 115 control subjects. Genotypes were determined by electrophoresis of the DNA digestion products from RsaI (C282Y) and MboI (H63D). RESULTS: We failed to demonstrate that the C282Y and H63D mutations were risk factors for ACI in Caucasians. The percentage of C282Y and H63D genotypes (dominant model) in ACI-cases (C282Y: 7.3%, n=7; H63D: 28.1%, n=27) did not differ significantly (P=0.9 and P=0.7 respectively) from that of the controls (C282Y: 7.0%, n=8; H63D: 26.1%, n=30). Logistic regression analysis revealed that arterial hypertension, diabetes, and cigarette smoking are independent risk factors for ACI, whereas the C282Y and H63D HFE gene mutations are not. CONCLUSIONS: We provided evidence that the C282Y and H63D HFE gene mutations were not risk factors for ACI in this Slovene population.
