Is there any association of apolipoprotein E gene polymorphisms with metabolic syndrome in a young population of Croatian origin?

BACKGROUND: Apolipoprotein E has an important role in lipid metabolism and adipocyte activity and apo E gene (APOE) might serve as a potential determinant of metabolic syndrome (MetS). AIM: The aim of the presented study was to investigate the association between APOE polymorphism and MetS in young adult subjects of Croatian origin. METHODS: This study measured biochemical and anthropometric parameters of 149 young (aged 20-33) subjects. The APOE was genotyped by real-time PCR. RESULTS: No APOE genotype significantly increased the risk for development of MetS. Significant association was found between APOE polymorphism and elevated blood pressure (EBP) (p = .019). The carriers of the ɛ4 allele had decreased risk for EBP (OR = 0.28, 95% CI) compared to ɛ3 allele carriers (ɛ3 allele vs others, χ2 = 7.08; p = .005). APOE alleles were significantly associated with the concentration of TC and LDL-C (χ2 = 12.11, p = .002 and χ2 = 15.76, p < .001, respectively). With diet as a modification covariate there was a significant correlation of APOE alleles with the concentrations of adiponectin and leptin (χ2 = 7.076; p = .029 and χ2 = 7.46; p = .024, respectively). CONCLUSION: Although APOE variants were not confirmed as the risk factor for development of MetS, the APOE alleles were associated with some of the metabolic parameters in young Croatian subjects. The relation of APOE alleles with a concentration of adiponectin and leptin depends on the diet intake.

ATP7B Gene Mutations in Croatian Patients with Wilson Disease.

AIMS: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism, characterized by its accumulation in tissues which results in hepatic, neurological, and/or psychiatric symptoms. The aim of this study was to investigate the genetics of WD in Croatian patients. METHODS: Correlation of the clinical presentation subtype and the age at onset of the diagnosis of WD with the ATP7B genotype was investigated in a group of Croatian WD patients. DNA from peripheral blood samples was tested for the p.His1069Gln by direct mutational analysis and other polymorphisms were identified by sequence analysis of coding and flanking intronic regions of ATP7B gene. RESULTS: In the group of 75 WD patients of Croatian origin, 18 different mutations in ATP7B gene were detected, three of which were novel. The p.His1069Gln mutation was most frequent, being detected in 44 Croatian WD patients (58.7%). Most ATP7B mutations (90.4%) were located in exons 5, 8, 13, 14, and 15. CONCLUSIONS: Clinical diagnosis of WD was confirmed in 59 patients by detecting mutations on both ATP7B alleles. The age at onset of WD and the type of WD clinical presentation showed no significant correlation with the ATP7B genotype.