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- Hoffstedt, J, et al.
(författare)
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A common hormone-sensitive lipase i6 gene polymorphism is associated with decreased human adipocyte lipolytic function
- 2001
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Ingår i: Diabetes. - : American Diabetes Association. - 0012-1797 .- 1939-327X. ; 50:10, s. 2410-2413
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Tidskriftsartikel (refereegranskat)abstract
- Hereditary factors may be involved in the pathogenesis of type 2 diabetes. A polymorphism in the hormone-sensitive lipase (HSL) gene (HSLi6) is associated with obesity and diabetes, although it is unknown whether the polymorphism is functional and thereby influences lipolysis. We genotyped 355 apparently healthy nonobese male and female subjects for the HSLi6 polymorphism. Allele 5 was found to be the most common allele (allele frequency 0.57). In 117 of the subjects, we measured abdominal subcutaneous fat cell lipolysis induced by drugs acting at various steps in the lipolytic cascade. The lipolysis rate induced by norepinephrine isoprenaline (acting on β-adrenoceptors), forskolin (acting on adenylyl cyclase), and dibutyryl cyclic AMP (acting on HSL) were all decreased by ∼50% in allele 5 homozygotes, as compared with noncarriers. Heterozygotes showed an intermediate lipolytic rate. The difference in lipolysis rate between genotypes was more pronounced in men than in women. We conclude that allele 5 of the HSLi6 polymorphism is associated with a marked decrease in the lipolytic rate of abdominal fat cells. This may in turn contribute to the development of obesity.
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| 2. |
- Lavebratt, C., et al.
(författare)
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Association study between chromosome 10q26.11 and obesity among Swedish men
- 2005
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Ingår i: International Journal of Obesity. - : Springer Science and Business Media LLC. - 0307-0565 .- 1476-5497. ; 29:12, s. 1422-1428
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Proximal chromosome 10q26 was recently linked to waist/hip ratio in European and African-American families. The objective was to investigate whether genomic variation in chromosome 10q26.11 reflects variation in obesity-related clinical parameters in a Swedish population. DESIGN: Genetic association study of single-nucleotide polymorphisms (SNPs) in chromosome 10q26.11 and obesity-related clinical parameters was performed. Obesity was defined as body mass index (BMI)≥30 kg/m2. SUBJECTS: Swedish Caucasians comprising 276 obese and 480 nonobese men, 313 obese and 494 nonobese women, 177 obese and 163 nonobese patients with type 2 diabetes mellitus (T2DM), and 106 obese and 201 nonobese subjects with impaired glucose tolerance (IGT) patients. MEASUREMENTS: Genotypes of 11 SNPs at chromosome 10q26.11, and various obesity-related clinical parameters. RESULTS: Homozygosity of a common haplotype constructed by three SNPs, rs2185937, rs1797 and hCV1402327, covering an interval of 2.7 kb, was suggested to confer an increased risk for obesity of 1.5 among men (P=0.043). The C allele frequency and homozygous genotype frequency of the rs1797 tended to be higher among obese compared to among nonobese men (P=0.017 and 0.020, respectively). The distribution of BMI and diastolic blood pressure was higher among those with the C/C genotype (P=0.022 and 0.0061, respectively). The obese and the nonobese groups were homogeneous over BMI subgroups with regard to rs1797 risk genotype distribution. There was no tendency for association between rs1797 and obesity among neither women nor T2DM nor IGT patients. CONCLUSION: We show support for association between proximal chromosome 10q26.11 and obesity among Swedish men but not women through the analysis of a haplotype encompassing 2.7 kb. © 2005 Nature Publishing Group All rights reserved.
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| 4. |
- Demirer, S., et al.
(författare)
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Haemostasis in patients with Behcet's disease
- 2000
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Ingår i: European Journal of Vascular and Endovascular Surgery. - : Elsevier BV. - 1078-5884 .- 1532-2165. ; 19:6, s. 570-574
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Tidskriftsartikel (refereegranskat)abstract
- AIM: to determine whether Behçet's disease affects haemostatic function. SETTING: University Hospital, Turkey. PATIENTS: one hundred and twenty-seven consecutive patients with Behçet's disease, 34 of whom with a history of vascular involvement. METHODS: prothrombin fragment 1+2 tissue plasminogen activator, protein S and C, antithrombin, fibrinogen, von Willebrand factor, thrombomodulin and prothrombin time (PT) were measured in patient plasma. RESULTS: soluble thrombomodulin was significantly lower and von Willebrand factor (vWF) and tissue plasminogen activator (tPA) significantly higher in Behçet's patients. Patients with vascular involvement showed the highest levels of vWF and tPA. There was no activation of coagulation, not even in patients with an active disease at the time of sampling. CONCLUSION: there were indirect signs of endothelial activity or damage, particularly in patients with vascular involvement. Coagulation was not activated.
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