BackgroundMutation in SCARB1 gene, exon 8 rs5888, has been associated with altered lipid levels and cardiovascular risk in humans though the results have been inconsistent. We analysed the impact of SCARB1 single nucleotide polymorphism (SNP) rs5888 with plasma lipid profile and association with coronary artery disease (CAD) in a Lithuanian population characterized by high morbidity and mortality from CAD and high prevalence of hypercholesterolemia.MethodsThe study included 1976 subjects from a random sample (reference group) and an myocardial infarction (MI) group of 463 patients. Genotyping of SCARB1 (rs5888) was carried out using the real-time polymerase chain reaction method.Results/principal findingsAnalysis of rs5888 C/T gene polymorphism in the reference group revealed that male TT genotype carriers (25–74 years) had significantly higher total cholesterol and triglyceride concentrations (5.70 mmol/l vs. 5.49 mmol/l; p = 0.036, and 1.70 mmol/l vs. 1.40 mmol/l, p = 0.023, respectively) than CT carriers and the oldest males (65–74 years) TT carriers had significantly higher high density lipoprotein cholesterol concentrations in comparison to heterozygous (1.52 mmol/l vs. 1.36 mmol/l, p = 0.033). The youngest female (25–44 years) TT genotype carriers had significantly lower low density lipoprotein cholesterol concentrations in comparison to C homozygous (2.59 mmol/l vs. 2.92 mmol/l, p = 0.023). The frequency of the SCARB1 TT genotype in the oldest male MI group (65–74 years) was significantly lower than in the corresponding reference group subjects (9.4% vs. 22.3%, p = 0.006). SCARB1 TT genotype was associated with decreased odds of MI in males aged 65–75 years (OR = 0.24, 95% CI 0.10-0.56, p = 0.001).Conclusions/significanceSCARB1 polymorphism is associated with lipid metabolism and CAD in an age- and gender- dependent manner. Analysis of SCARB1 SNP rs5888 C/T genotypes revealed an atheroprotective phenotype of lipid profile in older men and in young women TT genotype carriers in the reference group. SCARB1 TT genotype was associated with decreased odds of MI in aged men.

Only MMP-9 Rs3918242 (C->T) single nucleotide polymorphism was found to play a significant role in the development of AMD, and the effect was more pronounced at the age of less than 65 years.

Abstract. The aim of the present study was to determine the association between sirtuin 1 (SIRT1), fibroblast growth factor receptor 2 (FGFR2) and signal transducer and activator of transcription 3 (STAT3) polymorphisms, and pituitary adenoma (PA) development, invasiveness, hormonal activity and recurrence. The present study included 143 patients with a diagnosis of PA. The reference group involved 808 healthy subjects. The genotyping of SIRT1 rs12778366, FGFR2 rs2981582 and STAT3 rs744166 was performed using the quantitative polymerase chain reaction method. The SIRT1 rs12778366 polymorphism analysis in the overall group revealed differences in the genotype distribution between patients with PA and control group subjects. The rs12778366 T/C genotype was observed to be different in non-invasive, non-recurrent and inactive PA subgroups compared with the control group, while the C/C genotype was observed to be different in invasive, recurrent and active PA subgroups compared with the control group. STAT3 rs744166 polymorphism analysis in the overall group revealed differences in the genotype distribution between patients with PA and the control groups. The rs744166 G/G genotype was observed to be different in invasive, non-recurrent and active PA subgroups compared with the control group, while the rs744166 A/A genotype was observed to be different in the active PA subgroup compared with the control group, and was also different in terms of invasiveness and recurrence in PA subgroups. The present study demonstrated that SIRT1 rs12778366 is associated with pituitary adenoma development while STAT3 rs744166 is associated with PA invasiveness, hormonal activity and recurrence.

Age-related macular degeneration affects the macula and is the leading cause of significant and irreversible central visual loss. It is the most common cause of visual loss in people older than 60 years. The pathogenesis of age-related macular degeneration is complex and not completely understood. It is thought that age-related macular degeneration has a multifactorial etiology, the development of which may be caused by interrelation of environmental and genetic factors and body characteristics. In this article, risk factors such as age, gender, cigarette smoking, color of the iris, nutrition, body mass index, oxidative stress, and genetic factors (complement factor H gene, Apo E gene, and others) are reviewed. Here, choroidal neovascularization process, in which hypoxia, inflammatory process, and proteolytic enzymes play a determinant role, is discussed. Considerable attention is paid to genetic polymorphism of matrix metalloproteinases, especially to matrix metalloproteinases 2 and 9, respectively gelatinases A and B, also to matrix metalloproteinase 9.

Purpose To examine the 10-year incidence of the pseudoexfoliation syndrome (PEX) in adults in a population-based follow-up study, to determine its link with vascular diseases, and to identify possible risk factors of the PEX. Methods The baseline examination was performed in 2006 on a random sample of 1033 participants from Kaunas city (Lithuania) population. In 2016, a followup study of 686 participants who returned for the examination was conducted. The respondents filled out a questionnaire, an ophthalmological examination was performed, and the presence of vascular diseases was determined by the anamnesis and electrocardiogram evaluation data. Binary univariate and multivariate logistic regression analyses were conducted with the PEX and vascular diseases as predictors, controlling for age. Odds ratios (OR) and 95% confidence intervals of OR were calculated for the risk of new PEX cases. Results During 10 years, the prevalence of the PEX in the study population increased from 10.3 to 34.2%. The rates of ischemic heart disease (IHD) and IHD combined with stroke were significantly higher in the PEX subjects than in the non-PEX subjects. The risk of the PEX among persons with IHD was, on the average, by 1.5-fold higher, and among those with IHD and stroke, on the average, by 1.6-fold higher as compared to persons without the aforementioned pathologies (accordingly, p = 0.014 and p = 0.010). Conclusion The prevalence of the PEX increased significantly with age. The risk of the PEX was significantly higher among persons with IHD and even higher among persons with IHD and stroke. In the future, a greater understanding of the cardiovascular, metabolic, and environmental components associated with the PEX may lead to more specific lifestylerelated preventive strategies to decrease the disease burden.