Search results for "Allele"
showing 10 items of 1006 documents
A genetic variant of the atrial natriuretic peptide gene is associated with cardiometabolic protection in the general community
2011
Objectives We sought to define the cardiometabolic phenotype associated with rs5068, a genetic variant of the atrial natriuretic peptide (ANP) gene. Background The ANP and B-type natriuretic peptide play an important role in cardiorenal homeostasis but also exert metabolic actions. Methods We genotyped 1,608 randomly selected residents from Olmsted County, Minnesota. Subjects were well-characterized. Results Genotype frequencies were: AA 89.9%, AG 9.7%, and GG 0.4%; all subsequent analyses were AA versus AG+GG. The G allele was associated with increased plasma levels of N-terminal pro-atrial natriuretic peptide (p = 0.002), after adjustment for age and sex. The minor allele was also associa…
Effect of walnut-enriched meat on the relationship between VCAM, ICAM, and LTB4 levels and PON-1 activity in ApoA4 360 and PON-1 allele carriers at i…
2011
Cardiovascular risk depends largely on paraoxonase (PON-1) and apolipoprotein A4 (APOA4) gene polymorphisms. To compare the effects of consumption of walnut-enriched meat versus low-fat meat (LM) on selected soluble adhesion molecules and leukotrienes (LTB4). In all 22 subjects at increased cardiovascular risk were taken. It is a non-blinded, cross-over, placebo-controlled study. Two 5-week experimental periods separated by 4–6 week wash-out interval. Participants consumed walnut-enriched meat during one period and LM during the other. Diet characteristics, HDLc, Apo A1, paraoxonase, sVCAM-1, sICAM-1 and LTB4 were analysed. PON-1 55, PON-1 192 and APOA4 360 polymorphism effects were also as…
DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting
2002
In forensic science and in legal medicine Y chromosomal typing is indispensable for sex determination, for paternity testing in the absence of the father and for distinguishing males in multiple rape cases. Another potential application is the estimation of paternal geographic origin or family name from a crime stain to narrow down the range of suspects and thus reduce costs of mass screenings. However, Y typing alone cannot provide a sufficiently resolved DNA fingerprint as required for court convictions. Thus, there is a dilemma whether or not to sacrifice valuable material for the sake of extensive Y chromosomal investigations when stain DNA is limited (typically allowing only few PCR am…
Involvement of -308 TNF-alpha and 1267 Hsp70-2 polymorphisms and zinc status in the susceptibility of coronary artery disease (CAD) in old patients.
2006
Coronary artery disease (CAD) is characterized by an inflammatory status and it represents the major cause of death in elderly. Zinc deficiency and inflammatory genes within major histocompatibility complex (MHC) region are implicated in ischaemic heart diseases. TNF-alpha is present in coronary artery plaques and may provoke plaque instability. Hsp70 plays instead a pro-atherogenic role, via proinflammatory cytokine production, in atherosclerotic lesions contributing to plaque rupture. Contradictory data report the association between -308 TNF-alpha polymorphism and CAD, while no investigations exist on Hsp70-2 gene in CAD. In the current study, we analysed -308 TNF-alpha and 1267 Hsp70-2 …
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…
The Mediterranean diet protects against waist circumference enlargement in 12Ala carriers for the PPARgamma gene: 2 years' follow-up of 774 subjects …
2009
The PPARγ gene regulates insulin sensitivity and adipogenesis. The Pro12Ala polymorphism of this gene has been related to fat accumulation. Our aim was to analyse the effects of a 2-year nutritional intervention with Mediterranean-style diets on adiposity in high-cardiovascular risk patients depending on the Pro12Ala polymorphism of the PPARγ gene. The population consisted of a substudy (774 high-risk subjects aged 55–80 years) of the Prevención con Dieta Mediterránea (PREDIMED) randomised trial aimed at assessing the effect of the Mediterranean diet for CVD prevention. There were three nutritional intervention groups: two of them of a Mediterranean-style diet and the third was a control gr…
The association between the 4G/5G polymorphism in the promoter of the plasminogen activator inhibitor-1 gene and extension of postsurgical calf vein …
2013
The objective of this study was to evaluate whether the presence of a plasminogen activator inhibitor type 1 (PAI-1) promoter polymorphism 4G/5G could significantly influence the proximal extension of vein thrombosis in spite of anticoagulant treatment in patients with calf vein thrombosis (CVT) following orthopaedic, urological and abdominal surgery. We studied 168 patients with CVT, who had undergone orthopaedic, urological and abdominal surgery, subdivided as follows: first, 50 patients with thrombosis progression; second, 118 patients without thrombosis progression. The 4G/5G polymorphism of the plasminogen activator inhibitor 1 was evaluated in all patients and in 70 healthy matched co…
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…