Search results for " polymorphism"
showing 10 items of 1028 documents
Transforming growth factor beta1 T29C gene polymorphism and hypertension: relationship with cardiovascular and renal damage.
2008
Distribution of T29C TGFβ1 gene polymorphism was analysed in 260 hypertensive and 134 normotensive subjects. Circulating TGFβ1 and procollagen type III levels, microalbuminuria, left ventricular geometry and function were evaluated in all the hypertensives subgrouped according to T29C TGFβ1 gene polymorphism. Circulating TGFβ1 by ELISA technique, procollagen type III by a specific radioimmunoassay, microalbuminuria by radioimmunoassay, left ventricular geometry and function by echocardiography were determined. All groups were comparable for gender, age and sex. Regarding T29C TGFβ1 gene polymorphism, prevalence of TC or CC genotypes was significantly (p < 0.05) higher in hypertensives th…
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
2009
Context Echocardiographic measures of left ventricular (LV) structure and function are heritable phenotypes of cardiovascular disease. Objective To identify common genetic variants associated with cardiac structure and function by conducting a meta-analysis of genome-wide association data in 5 population-based cohort studies (stage 1) with replication (stage 2) in 2 other community-based samples. Design, Setting, and Participants Within each of 5 community-based cohorts comprising the EchoGen consortium (stage 1; n = 12 612 individuals of European ancestry; 55% women, aged 26-95 years; examinations between 1978-2008), we estimated the association between approximately 2.5 million single-nuc…
Association of -1082 interleukin-10 gene polymorphism in Peruvian adults with chronic periodontitis
2014
Objectives: The aim of this study was to assess association of the -1082 IL-10 gene polymorphism with chronic periodontitis CP in a Peruvian population. Study Design: Samples of venous blood and DNA were obtained from 106 Peruvian subjects: a) 53 periodontally healthy; and b) 53 with CP. The association of the -1082 IL-10 promoter sequences was assessed by Polymerase chain reaction-restriction fragment length polymorfism (PCR-RFLP). Student’s t test were used to assess the clinical parameters, as well as the χ2 test and the odds ratio (OR), with 95% confidence intervals (CI) used performed for estimates regarding genotype and allele frequencies. Results: There were statistically significant…
Polymorphisms in the SCD1 gene are associated with indices of stearoyl CoA desaturase activity and obesity: a prospective study.
2013
Scope The serum fatty acid (FA) composition is influenced by dietary fat and the endogenous production of FAs. Stearoyl CoA desaturase 1 (SCD1) is the rate-limiting enzyme catalyzing the synthesis of MUFAs from saturated FAs. Variations in SCD1 activity have been associated with obesity, diabetes, or inflammation. We evaluated the associations between genetic variation of the SCD1 gene, SCD1 activity, intake of oil, and obesity in a population-based prospective study in southern Spain. Methods and results We collected phenotypic, metabolic, nutritional, and genetic information. The type of dietary fat was assessed from samples of cooking oil taken from the participants’ kitchens and analyze…
Vitamin D receptor gene polymorphisms and plasma renin activity in essential hypertensive individuals.
2014
Several studies analyzed 25-hydroxyvitamin D (25[OH]D) and blood pressure (BP) relationship with mixed results. Moreover, a relationship between the risk of hypertension and vitamin D receptor (VDR) gene polymorphisms, FokI and BsmI, was reported. This study was aimed to analyze these relationships in essential hypertensive (EH) patients. Seventy-one EH patients, 18-75 years old, were enrolled. Patients underwent clinical BP, 24-h ambulatory BP monitoring, 25[OH]D and plasma renin activity (PRA) evaluations. FokI and BsmI VDR polymorphisms were analyzed and compared with those of 72 healthy controls. In EH patients, the median 25[OH]D levels were lower than 30 ng ml(-1). We found a signific…
Relationship between circulating E-selectin, DD genotype of angiotensin-converting-enzyme, and cardiovascular damage in central obese subjects
2003
Fifty-six young central obese patients were investigated to evaluate relationships between soluble E-selectin (sE-S), angiotensin-converting enzyme (ACE) gene polymorphism, left ventricular function and structure, and carotid morphology by determination of sE-S and ACE genotypes. Our results indicated that central obese subjects with concomitant higher levels of sE-S and ACE DD genotype may be characterized by early cardiovascular alterations and then considered a particular subset of subjects at higher risk of cardiovascular disease.
Interaction between gene variants of the serotonin transporter promoter region (5-HTTLPR) and catecholO-methyltransferase (COMT) in borderline person…
2008
Borderline personality disorder (BPD) is characterized by a heterogeneous symptomatology with instability in impulse control, interpersonal relationships and self-image. BPD patients display repeated self-injury, chronic suicidal tendencies and emotional dysregulation, mainly dysregulation of negative affect. In its etiology, genetic and environmental factors have been suggested. Recently, an investigation in male healthy volunteers found gene–gene effects of the catechol-O-methyl-transferase (COMT) low-activity (Met158) and the low-expression allele of the deletion/insertion (short/long or S/L, respectively) polymorphism in the serotonin transporter-linked promoter region (5-HTTLPR) on the…
Lack of association of the -463 G/A myeloperoxidase promoter polymorphism with Behcet's disease in Italian patients.
2007
Objective. To investigate potential associations between the � 463G/A myeloperoxidase (MPO) promoter polymorphism and susceptibility to, and clinical expression of, Behcet's disease (BD). Methods. One hundred and seventy-five Italian patients who satisfied the International Study Group criteria for BD and 235 healthy age- and sex-matched blood donors were genotyped for the �463G/A promoter polymorphism of the MPO gene by molecular methods. The patients were subgrouped according to the presence or absence of clinical manifestations. Results. The distribution of allele and genotype frequencies of the MPO �463A/G polymorphism did not differ significantly between the BD patients and the healthy…
Smoking cessation and variations in nicotinic acetylcholine receptor subunits alpha-5, alpha-3, and beta-4 genes.
2009
Background Evidence has recently accumulated that single nucleotide polymorphisms in the genetic region encoding the nicotinic acetylcholine receptor subunits α-5, α-3, and β-4 are associated with smoking and nicotine dependence. We aimed to determine whether these genetic variations are also predictive of smoking cessation. Methods Lifetime history of smoking was assessed by questionnaire at enrolment into a large epidemiological study of the German elderly population (ESTHER study). Cox proportional hazards modeling was applied in a retrospective cohort approach to determine the associations of individual polymorphisms and haplotypes with smoking cessation probability in 1446 subjects who…
IL 10.G microsatellites mark promoter haplotypes associated with protection against the development of reactive arthritis in Finnish patients.
2001
Objective To investigate the association of microsatellites and single-nucleotide promoter polymorphisms (SNPs) in the gene for the cytokine interleukin-10 (IL-10) with susceptibility to and outcome of reactive arthritis (ReA). Methods From genomic DNA, IL-10 microsatellites G and R and IL-10 promoter polymorphisms at positions −1087 and −524 were typed by polymerase chain reaction, automated fragment length analysis, and restriction fragment digestion in 85 Finnish patients with ReA and 62 HLA–B27–positive Finnish controls. ReA patients had been followed up for 20 years. Genotypes and haplotypes of IL-10 were correlated with distinct features of the disease course, such as triggering agent…