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Large-scale Population (large-scale + population)

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Medical Sciences	100%

Selected Abstracts

Studies of associations between the Arg389Gly polymorphism of the ,1 -adrenergic receptor gene (ADRB1) and hypertension and obesity in 7677 Danish white subjects

DIABETIC MEDICINE, Issue 4 2007
A. P. Gjesing
Abstract Aims, Activation of the ,1 -adrenergic receptor (ADRB1) causes increased lipolysis in adipose tissue and enhances cardiac output. Analysis of the association of the functional ADRB1 Arg389Gly variant with obesity and hypertension has given ambiguous results. To clarify the potential impact of this variant on obesity and hypertension in the general population, we examined the Arg389Gly variant in a relatively large-scale population-based study. Methods, Case-control studies and quantitative trait analyses were carried out in 7677 Danish Caucasians who were genotyped for the Arg389Gly variant (dbSNP rs1801253) using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Results, A weak association between the Gly allele of the Arg389Gly variant and obesity was observed when comparing cases (n = 1540) defined as body mass index (BMI) > 30 kg/m2 with control subjects (n = 6108) defined as BMI , 30 kg/m2 for both allele frequencies (P = 0.05) and genotype distribution (P = 0.05). Case-control studies (cases n = 2518; control n = 3981) examining the effect on hypertension showed no association with allele frequencies (P = 0.3) or genotype distribution (P = 0.5); however, in the quantitative trait analyses, individuals carrying the Gly allele had slightly but significantly lower diastolic (Arg/Arg = 81.9 mmHg vs. Gly-allele carriers = 81.5 mmHg) and systolic (Arg/Arg = 129.4 mmHg vs. Gly-allele carriers = 128.8 mmHg) blood pressure as well as a lower mean arterial blood pressure. Conclusion, Our results suggest that the Arg389Gly polymorphism does not have any clinically important impact on the pathogenesis of obesity in Danish white subjects. Furthermore, despite the observed minor influence on blood pressure, this variant is most likely not to be a major contributor to the development of hypertension. [source]

Studies of relationships between the GLUT10 Ala206Thr polymorphism and impaired insulin secretion

DIABETIC MEDICINE, Issue 7 2005
C. S. Rose
Abstract Aims This study aimed to investigate if the previously observed association between the GLUT10 Ala206Thr polymorphism and variation in fasting and oral glucose-induced serum insulin concentrations could be replicated in a large-scale population-based cohort of Danish whites. Methods The GLUT10 Ala206Thr polymorphism was genotyped in a case-control study of 880 Type 2 diabetic patients and 4372 glucose-tolerant control subjects. The latter group was also enrolled in an assessment of fasting and post-OGTT circulating levels of plasma glucose and serum insulin in relation to genotype. The variant was genotyped by analysis of PCR-generated primer extension by matrix-assisted laser desorption/ionization time-of-flight analysis. Results The Ala206Thr variant was equally frequent among Type 2 diabetic patients and glucose-tolerant subjects (P = 0.9) and there was no difference in the distribution of genotype groups (P = 1.0). In the 4372 glucose-tolerant subjects there was no statistically significant association between the polymorphism and levels of fasting and post-oral glucose tolerance test plasma glucose and serum insulin along with the insulinogenic index and the homeostasis model of assessment for insulin resistance and insulin secretion. Likewise, in an age-stratified subgroup comprising 1264 subjects, we observed no relationships between the GLUT10 polymorphism and the selected metabolic features. Conclusions The GLUT10 Ala206Thr polymorphism is not associated with Type 2 diabetes in the Danish population. Furthermore, in the present large-scale cohort, the polymorphism does not associate with phenotypes such as fasting and oral glucose-induced levels of plasma glucose and serum insulin. [source]

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population

EUROPEAN JOURNAL OF NEUROLOGY, Issue 1 2010
M. Hasanzad
Background and purpose:, Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder. Carrier frequency studies of SMA have been reported for various populations. Although no large-scale population-based studies of SMA have been performed in Iran, previous estimates have indicated that the incidence of autosomal recessive disorder partly because of the high prevalence of consanguineous marriage is much higher in the Iranian population than in other populations. Methods:, In this study, we used a reliable and highly sensitive quantitative real-time PCR assay with SYBR green I dye to detect the copy number of the SMN1 gene to determine the carrier frequency of SMA in 200 healthy unrelated, non-consanguineous couples from different part of Iran. Results:, To validate the method in our samples, we determined the relative quantification (RQ) of patients with homozygous deletion (0.00) and hemyzygous carriers (0.29,0.55). The RQ in 10 of 200 normal individuals were within the carrier range of 0.31,0.57, estimating a carrier frequency of 5% in the Iranian population. Conclusions:, Our data show that the SMA carrier frequency in Iran is higher than in the European population and that further programs of population carrier detection and prenatal testing should be implemented. [source]

Pharmacoepidemiology of anabolic androgenic steroids: a review

FUNDAMENTAL & CLINICAL PHARMACOLOGY, Issue 1 2005
Ingemar Thiblin
Abstract Non-prescribed use of anabolic androgenic steroids (AAS) has been associated with a number of physical and psychiatric/behavioural complications, some of which are potentially lethal. Here, we review both observational and experimental studies on human subjects concerned with such side-effects. The only physical complication of AAS use that receives definitive support from such investigations is unfavourable changes in blood lipid profiles. Support for various psychiatric complications has also been provided by a number of cross-sectional studies, most involving comparisons between weight-training individuals who use or do not use AAS. Certain of these complications, in particular hypomania and increased aggressiveness, have been confirmed in some, but not all, randomized controlled studies. Epidemiological attempts to determine whether AAS use triggers violent behaviour have failed, primarily because of high rates of non-participation. Studies regarding the prevalence of AAS use in different populations typically report life-time prevalences of 1,5% among adolescents. However, the life-time prevalence (i.e. use on at least one occasion) is of doubtful relevance in attempting to estimate the number of individuals at risk for side-effects, as most of these complications appear to develop during prolonged use of AAS. Furthermore, it is reasonable to assume that the symptoms and signs of AAS use are often overlooked by healthcare professionals, so that the number of cases of possible AAS-related complications is virtually unknown. These limitations, together with an apparently low prevalence of prolonged AAS use among the general population, indicate that future epidemiological research in this area should focus on retrospective case,control studies and, perhaps, also on prospective cohort studies of populations selected for a high prevalence of AAS use, rather than attempting to perform large-scale population-based studies. [source]