Background and Objectives: Inflammation plays a crucial role in the pathophysiology of ischemic stroke (IS). Interleukin-1B and interleukin-1 receptor antagonists are key factors in inflammatory processes. Aims: The aims of our study were to evaluate the relationship between genetic variation in interleukin-1B (IL1B) rs1143627 and interleukin-1 receptor antagonist (IL1RN) variable-number-tandem-repeats (VNTR), and overall IS and subtype prevalence rates. Materials and Methods: The analysis included 147 hospitalized Polish patients with IS diagnosed using conventional criteria. The control group consisted of 119 healthy subjects. Genotypes were determined by polymerase chain reaction. Results: A significant association between rs1143627 and stroke was found. The -31C IL1B polymorphism showed an association with overall IS, OR = 2.30 (1.36–3.87) p = 0.020. An association was also detected for LVI (large vessel infarction) subtypes of stroke. After risk factor adjustment (age, diabetes mellitus, dyslipidemia), the C allele was found to be an independent risk factor for LVI, OR = 1.99 (1.05–3.79) p = 0.036. Significant association was not observed between IL1RN alleles and IS. Conclusions: Our results suggest that the C allele of IL1B rs1143627 may be associated with susceptibility to overall IS and LVI subtypes of stroke in the Polish population.

The members of the family of bone morphogenetic proteins (BMPs) are important regulators in cardiac development. The present study was designed to evaluate the effect of common genetic variants of BMP-4 and its receptors BMPR1A, BMPR1B, and ACVR1 on left ventricular mass (LVM) and other parameters of the heart and blood pressure in newborns. The study included 210 healthy newborns. Two-dimensional M-mode echocardiography was used to assess LVM between days 3 and 4 after birth. Polymorphisms were determined by the polymerase chain reaction–restriction fragment length polymorphism technique. We found lack of associations between LVM, values of blood pressure, and the BMP4, BMPR1A, BMPR1B, and ACVR1 genotypes. A significant association was observed between the 455C allele of BMP4 and increased left ventricular internal diameter systolic (p=0.004) and between 1650T allele of BMPR1B and lower left atrium diameter (p=0.038). Presence of the 455C allele of BMP4 and the 8474T allele of ACVR1 gene was significantly associated with decreased left ventricular ejection fraction (LVEF) (p=0.0004 and p=0.046, respectively). The 455C allele of BMP4 and the 8474T allele of ACVR1 may play a role as significant predictors for decreased LVEF in newborns.

Introduction Endothelial dysfunction is one of the most important factors implicated in the pathogenesis of coronary artery disease (CAD). The aim of this study was to investigate the association of the E-selectin gene (SELE) with CAD and CAD-related traits using tagging polymorphisms....

Background. The pathogenesis of thoracic aortopathy is complex, and much evidence suggests the influence of genetic factors. Some genes with polymorphisms are widely considered critical factors in the initiation and development of aortic aneurysm. The aim of our study was to analyze the association of genetic polymorphisms ofMMP1rs1799750 (c.-1607G>GG),MMP9rs3918242 (c.-1562C>T),COL1A1rs1800012 (c.1245G>T), andCOL1A2rs42524 (c.1645G>C) with predisposition to thoracic aortopathy in Polish patients and with clinical characteristics of these patients.Methods. The study was carried out with 96 patients with thoracic aortopathy (47 patients with ascending aortic aneurysm and 49 patients with thoracic aortic dissection) and 61 control subjects without thoracic aortopathy. TheMMP1,MMP9,COL1A1, andCOL1A2polymorphisms were determined by PCR-RFLP.Results. No significant differences in the frequency distributions ofMMP1,MMP9,COL1A1, andCOL1A2genotypes or alleles were found (1) between the control group and patients with ascending aortic aneurysm (AsAA), (2) between the control group and patients with thoracic aortic dissection (TAD), or (3) between AsAA and TAD patients. Multivariate logistic regression analysis revealed thatMMP1andMMP9polymorphisms were associated with the degree of aortic valve regurgitation.Conclusion. The results of our study did not support associations betweenMMP1,MMP9,COL1A1, andCOL1A2genetic variants with the risk of thoracic artery disease in Polish patients. However, rs1799750MMP1and rs3918242MMP9seem to be associated with the degree of aortic regurgitation.

The natriuretic peptides play a key role in the modulation of left ventricular mass (LVM) and blood pressure (BP). We hypothesised that NPPA (natriuretic peptide precursor A gene), NPPB (natriuretic peptide precursor B gene), and NPPC (natriuretic peptide precursor C gene) are candidate genes possibly involved in the development or modulation of LVM at early life.To assess the relationship between NPPA, NPPB, and NPPC gene polymorphisms with LVM and BP in newborns.A total of 206 healthy newborns were studied by two-dimensional M-mode echocardiography. The polymorphisms NPPA rs5065, NPPB rs198389, and NPPC rs5268 were characterised.Newborns carrying the C allele of the NPPB polymorphism had significantly lower LVM/body surface area (BSA) and LVM/body weight (BW) values when compared with newborns' homozygotes for the T allele (41.76 g/m2 vs. 48.31 g/m2, padjusted = 0.044 and 2.78 g/kg vs. 3.26 g/kg, padjusted = 0.031, respectively). An association was observed between NPPA genotype and systolic BP, diastolic BP, and mean arterial pressure ≥ 90th percentile (p = 0.029, p = 0.0048, p = 0.004, respectively). Also an association was observed for systolic BP ≥ 90th percentile for NPPB (p = 0.016).The present study shows that the NPPB gene polymorphism is associated with modulation of LVM in newborns. The NPPA and NPPB gene polymorphisms are associated with BP.