Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients

Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults. Several gene variants are involved in diverse mechanisms of cardiac and vessel development and could thus be considered candidate mutated genes for a congenital heart defect or a specific variant could predispose a person to CHD. In the present study, variants in four such genes are investigated for the first time in a group of young Greek CHD patients: the NFKB1 gene polymorphism (–94ins/ delATTG), rs28362491, NKX2-5 gene polymorphism rs2277923, GATA4 gene polymorphism rs11785481 and RANKL gene polymorphism rs4531631. A total of 43 CHD patients and 100 healthy adults were included in the study. The polymerase chain reaction-restriction fragment length polymorphism (PRC-RFLP) method was used to genotype the aforementioned polymorphisms of NFKB1, NKX2-5, GATA4 and RANKL. The association analysis identified that there was a protective association between CHD and the A allele of rs2277923 polymorphism (p = 0.004). The D allele of the rs28362491 polymorphism is also a likely risk factor for causing CHD (p = 0.006). The differences of the rs4531631 and rs11785481 variant contribution had no statistical significance between the groups (p >0.05). In conclusion, our results revealed that the rs28362491 and rs2277923 gene polymorphisms, but not the rs4531631 and rs11785481 polymorphisms, may contribute to CHD risk in a cohort of Greek CHD patients

Association of TNF-857C>T, TNFRSF1A36A>G, and TNFRSF1B676T>G polymorphisms with ischemic stroke in a greek population

Background: The role of genetic factors in the predisposition to develop ischemic stroke has been assessed by previous studies. The main goal of the current study was to determine any possible role of TNF-857C>T, TNFRSF1A36A>G, and TNFRSF1B676T>G polymorphisms in risk for stroke. Materials and Methods. One hundred seventy-three patients with first ever ischemic stroke of solely atherosclerotic etiology in Northwest Greece and a control group of 179 healthy unrelated subjects were evaluated. Results. TNF-857TT, TNFR136AA, and TNFR2676TT genotypes were significantly increased in the patient group compared to controls (P =.008, OR = 2.47 (1.26-4.84), P =.005, OR = 1.97 (1.22-3.17), and P =.003, OR = 2.2 (1.43-3.37), resp.). In addition, the TNFR136A and the TNFR2676T alleles were found significantly increased in patients compared to controls (P =.009, OR = 1.48 (1.12) and P =.001, OR = 1.75 (1.25-2.46), resp.). Conclusion. The high incidence of these genotypes and alleles in patient group suggests that they are potentially predisposing factors for stroke in the Greek population studied. Large-scale multicenter controlled studies are needed to verify these polymorphisms effects on stroke susceptibility. Copyright © 2011 Sofia Markoula et al

Y-chromosomal STR haplotypes in a population sample from continental Greece, and the islands of Crete and Chios

Eight Y-chromosomal short tandem repeats (STRs)--DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, and DYS385--were typed in a population sample (n = 113) of unrelated males from seven different regions of Greece (Macedonia, Thessaly, Epirus, Central Greece, Peloponnese, Crete Island, and Chios Island)

The Association of Vitamin D Receptor Polymorphisms with COVID-19 Severity

Background: Association studies of vitamin D receptor (VDR) polymorphisms with COVID-19 severity have produced inconsistent results in different populations. Herein we examined VDR gene polymorphisms in a Caucasian Greek cohort of COVID-19 patients. Methods: This was a case-control study in a tertiary university hospital in Greece including 137 COVID-19 patients with varying disease severities and 72 healthy individuals. In total 209 individuals were genotyped for the FokI (rs10735810), ApaI (rs7975232), TaqI (rs731236) and BsmI (rs1544410) single-nucleotide polymorphisms (SNP) of the VDR gene by polymerase chain reaction and restriction fragment length polymorphism analysis (PCR-RFLPs). Statistical analyses were performed to determine the association between genotype and disease severity, adjusting for various confounding factors. Results: Genotype distribution of the studied VDR SNPs in the control group was in Hardy–Weinberg equilibrium. The TaqI variant was differentially distributed between controls and COVID-19 patients according to the additive model (p = 0.009), and the CC genotype was significantly associated with an increased risk for severe COVID-19 according to the recessive model [OR: 2.52, 95%CI:1.2–5.29, p = 0.01]. Multivariate analysis demonstrated a robust association of COVID-19 severity and TaqI polymorphism in the recessive model even after adjusting for multiple confounders, including age, sex and CRP levels [Adj.OR:3.23, 95%CI:1.17–8.86, p = 0.023]. The distribution of FokI, ApaI and BsmI genotypes was similar between COVID-19 patients and controls. Conclusions: The CC genotype of TaqI polymorphism is significantly associated with an increased risk for severe COVID-19 independently of age, sex or degree of inflammation