Search results for "Gene Polymorphism"

Norepinephrine transporter gene polymorphism is not associated with susceptibility to alcohol dependence

2002

Abnormalities in monoamine neurotransmission have been implicated in the pathogenesis of alcoholism, mood disorders and schizophrenia. Murine norepinephrine transporter gene (NET) has been mapped to a region on chromosome 8 where a quantitative trait locus for ethanol sensitivity. Therefore we tested whether norepinephrine transporter (NET) gene variants confer susceptibility to either alcohol dependence or severe alcohol withdrawal symptoms. There is a highly polymorphic silent G1287A mutation in the NET gene. In our study 157 alcoholics and 185 healthy unrelated matched control subjects were analyzed for a silent G1287A mutation. No significant differences in allele and genotype distribut…

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…

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…

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.

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…

Evidence for transforming growth factor-beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent

2011

Objectives: Orofacial clefts are major human birth defects with complex etiology. Previous studies have proposed Transforming growth factor - beta 3 (TGF-β3) gene as a key player in contributing to non-syndromic cleft lip and palate, however none of the studies have yet included Indian population. Hence this study was designed to detect TGF-β3 gene polymorphism in nonsyndromic cleft lip and palate patients from Indian population which is genetically distinct from previously studied populations. Study Design: Peripheral blood samples of forty non-syndromic cleft lip and palate patients and forty unaffected individuals were collected for a case – control study design. Ethical clearance from t…

FOKI AND BSMI VITAMIN D RECEPTOR GENE POLYMORPHISMS, ARE THEY ASSOCIATED WITH INTIMA MEDIA THICKNESS IN ESSENTIAL HYPERTENSIVE INDIVIDUALS

2015

Objective: Analyzing 25hydroxyvitaminD (25[OH]D) serum levels and common carotid intimamedia thickness (IMT) relationship, and evaluating the association of FokI and BsmI vitamin D receptor (VDR) gene polymorphisms with IMT in essential hypertensive patients were our study aims. Design and method: We enrolled seventyone essential hypertensive patients, 18–75 years old. Patients underwent clinical blood pressure (BP) measurement, 24 hour ambulatory blood pressure monitoring, routine blood test, 25[OH]D assay and common carotid IMT evaluation. FokI and BsmIVDRpolymorphisms were analyzed by polymerase chain reactionrestriction fragment length polymorphism (PCRRFLP).

VITAMIN D RECEPTOR FOKI AND BSMI POLYMORPHISMS DO NOT SEEM TO BE ASSOCIATED WITH ARTERIAL HYPERTENSION

2014

Are polymorphisms of the β3 -adrenoceptor gene associated with an altered bladder function?

2012

Aims As the presence of a Trp64Arg polymorphism of the gene encoding the β3-adrenoceptor (B3AR) has been linked to the presence of overactive bladder, we investigated whether additional polymorphisms are detectable in this gene and explore their relationships parameters related to lower urinary tract function. Methods The coding region and adjacent stretches of the B3AR gene was sequenced in 91 patients. In total, 1015 patients from a single academic hospital were genotyped for the presence of two single nucleotide polymorphisms. Symptom scores and parameters from pressure-flow studies were analyzed relative to genotype in the B3AR gene. Results No frequent novel polymorphisms were detected…