Search results for " Polymorphism."
showing 10 items of 1006 documents
Association of a Mineralocorticoid Receptor Gene Polymorphism With Hypertension in a Spanish Population
2009
BACKGROUND To assess the association of polymorphisms and haplotypes of the mineralocorticoid receptor (MR) (NR3C2) gene to the risk of essential hypertension (HTN) in a Spanish population. METHODS This is a population-based study which included 1,502 subjects (748 women) >18 years old. Twenty-four polymorphisms of NR3C2 gene were analyzed by using SNPlex (Genotyping System based on OLA/PCR technology). RESULTS Alleles of the single-nucleotide polymorphism (SNP) rs5522 were significantly associated with the risk of HTN, both in the recessive and codominant models adjusted by age, gender, and body mass index (BMI). Genotype GG of the rs5522 showed to be protective against HTN odds ratio (OR)…
Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis
2006
Background and aims: Tropical calcific pancreatitis (TCP) is a type of chronic pancreatitis unique to countries in the tropics. Mutations in pancreatic secretory trypsin inhibitor (SPINK1) rather than cationic trypsinogen (PRSS1) explain the disease in only 50% of TCP patients. As cathepsin B (CTSB) is known to activate cationic trypsinogen, we attempted to understand the role of CTSB mutations in TCP. Evidence of epistatic interaction was investigated with the previously associated N34S SPINK1 allele, a variant considered to be a modifier rather than a true susceptibility allele. Subjects and methods: We sequenced the coding region of CTSB gene in 51 TCP patients and 25 controls and furthe…
Single nucleotide polymorphisms (SNPs) of pro-inflammatory/anti-inflammatory and thrombotic/fibrinolytic genes in patients with acute ischemic stroke…
2011
Abstract Background The genetic basis of complex diseases like ischemic stroke probably consists of several predisposing risk factors, such as genes involved in inflammation and thrombotic pathways. On this basis the aim of our study was to evaluate the role of SNPs (single nucleotide polymorphisms) of some pro-inflammatory/anti-inflammatory and coagulation/fibrinolytic genes in patients with acute ischemic stroke. Methods The study population consisted of 144 consecutive Caucasian adult patients who were hospitalized in the Internal Medicine Department at the University of Palermo between November 2006 and January 2008, and who met inclusion criteria. The cases were patients admitted with …
Residual vein thrombosis and onset of post-thrombotic syndrome: Influence of the 4G/5G polymorphism of plasminogen activator inhibitor-1 gene
2013
Abstract Background Plasminogen activator inhibitor-1 (PAI-1) is the most important inhibitor of plasminogen activator. The functional 4G/5G polymorphism of the gene coding for PAI-1 may affect PAI-1 plasmatic activity, influencing the imbalance between coagulation and fibrinolysis cascades. In this prospective cohort analytic study, we investigated the role of this single nucleotide polymorphism in the persistence of thrombotic lesion and the occurrence of post-thrombotic syndrome. Patients/Methods In a group of 168 patients with post-surgical deep vein thrombosis of the legs, we analyzed the 4G/5G polymorphism in the promoter of PAI-1 gene and plasmatic PAI-1 activity. Enrolled patients w…
Crossed 2D versus Slipped 1D π-Stacking in Polymorphs of Crystalline Organic Thin Films
2019
Polymorphs of organic semiconductors are of great interest as they shed light to structure-property relationships. The full X-ray thin film structure analysis of two polymorphs (B, G) of an important n-type semiconducting dicyano-distyrylbenzene based small molecule (CN-TFPA) is reported. Drastically different structures of the monotropic phases are revealed, that is an uncommon 2D crossed π-stacked arrangement for the B-phase versus a 1D slipped π-stack for G. Both phases exhibit a layered structure in the (100) plane with high structural integrity, driven by the hydrophobic contacts of the terminal CF3 groups; as (100) coincides with the film surface, this allows for exfoliation by scotch…
Education modulates the association of the FTO rs9939609 polymorphism with body mass index and obesity risk in the Mediterranean population
2012
Objective To define whether the rs9939609 FTO (fat mass and obesity associated) single nucleotide polymorphism (SNP) is associated with anthropometric measurements and its modulation by educational level in a Mediterranean population. Methods We studied 3 independent adult samples: a random sample (n = 1580) from the general population (GP), obese hospital patients (OHP) (n = 203) and elderly subjects (n = 1027) with high cardiovascular risk (HCR). Weight and height were directly measured. Education and physical activity (PA) were measured using questionnaires. Results The rs9939609 presented heterogeneous associations with BMI. In the GP, the minor A-allele was significantly associated wit…
Chromosomal location polymorphism of major rDNA sites in two Mediterranean populations of the killifih Aphanius fasciatus (Pisces: Cyprinodontidae)
2005
The chromosomes of the Mediterranean killifish, Aphanius fasciatus from two populations, the Lagoon of Venice (LV, 15 specimens) and the Lagoon ‘Stagnone di Marsala’ (Sicily) (SM, 48 specimens), have been investigated using conventional Ag-staining and fluorescent in situ hybridization (FISH) with 18S rDNA probe. The two methods revealed variation in the number of major rDNA sites ranging from 8 to 14 (LV) and from 1 to 4 (SM) per individual. The fact that each individual possessed its own number of sites implies that observed variation was structural. Moreover, overlapping of silver staining and FISH patterns demonstrated that all ribosomal genes were transcriptionally active in each speci…
Genetic Structure of Wild and Cultivated Olives in the Central Mediterranean Basin
2006
Background and Aims: Olive cultivars and their wild relatives (oleasters) represent two botanical varieties of Olea europaea subsp. europaea (respectively europaea and sylvestris). Olive cultivars have undergone human selection and their area of diffusion overlaps that of oleasters. Populations of genuine wild olives seem restricted to isolated areas of Mediterranean forests, while most other wild-looking forms of olive may include feral forms that escaped cultivation. Methods: The genetic structure of wild and cultivated olive tree populations was evaluated by amplified fragment length polymorphism (AFLP) markers at a microscale level in one continental and two insular Italian regions. Key…
Development of microbial populations in the anaerobic hydrolysis of grass silage for methane production
2010
Six batch leach bed (LB) reactors, installed in parallel and connected to a common upflow anaerobic sludge blanket reactor, were fed with grass silage and operated at 35 (+/-1) degrees C. The development and distribution of microorganisms, which firmly and loosely attached to solid materials, and presented in the leachate in the LB reactors, were investigated by 16S rRNA gene-based terminal restriction fragment length polymorphism and clone library analyses. The phylotypes and their relative abundance changed in the respective bacterial community throughout the 49-day run and showed differences between the communities. Large numbers of phylotypes were detected from day 10 onwards. On day 17…
The methylenetetrahydrofolate reductase C677T polymorphism and the risk of congenital heart diseases: a literature review
2014
Congenital Heart Diseases (CHDs) are the most commonand serious developmental anomaly and the leading non-infectious cause of mortality in the first year of life. Despite the advances in diagnosis and treatment, understanding of the developmental causes and aetiologies of CHDs has been limited. The hyperhomocysteinemia is one of the proved risk factors related to the occurrence of CHDs. The connection between cardiac defects, folate and hyperhomocysteinemia could be explained by a mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. Indeed, the C677T MTHFR mutation produces a thermolabile variant of MTHFR with reduced enzymatic action resulting in higher plasma levels of homocy…