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BB Genotype (bb + genotype)

Distribution by Scientific Domains

Medical Sciences	100%

Selected Abstracts

The vitamin D receptor gene variant is associated with the prevalence of Type 2 diabetes mellitus and coronary artery disease

DIABETIC MEDICINE, Issue 10 2001
J. R. Ortlepp
Abstract Aims, Vitamin D can influence lipolysis and insulin secretion. A common genetic polymorphism of the vitamin D receptor, which has been found to be associated with bone mineral density, has also been reported to be associated with insulin-dependent diabetes mellitus. To test the influence of the vitamin D receptor polymorphism on the prevalence of Type 2 diabetes mellitus and coronary artery disease we studied a population of high-risk patients, who were referred to our clinic for diagnostic coronary angiography. Methods, A total of 293 patients considered at high risk for coronary artery disease because of angina pectoris and known hypercholesterolaemia underwent diagnostic coronary angiography. The BsmI vitamin D receptor polymorphism was analysed by polymerase chain reaction. Results, Prevalence of Type 2 diabetes mellitus and coronary artery disease was gradually dependent on the number of B alleles (BB 28%, Bb 13%, bb 8% for Type 2 diabetes mellitus, P = 0.002; BB 88% Bb 72%, bb 66% coronary artery disease, P = 0.01). Patients with the BB genotype had an odds ratio of 3.64 (95% confidence interval 1.53,8.55, P = 0.002) to have Type 2 diabetes mellitus compared with patients with the bb genotype. Conclusions, The genotype of the vitamin D receptor polymorphism determines the prevalence of Type 2 diabetes mellitus and coronary artery disease in a high-risk cohort population. Diabet. Med. 18, 842,845 (2001) [source]

Heat shock protein gene 70-2 polymorphism is differentially associated with the clinical phenotypes of ulcerative colitis and Crohn's disease

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 7 2007
Su Y Nam
Abstract Background and Aim:, A single nucleotide polymorphism in heat shock protein 70-2 (HSP70-2) has been shown to be associated with a severe clinical course in Crohn's disease (CD), but it is not known if such a relationship exists in ulcerative colitis (UC). The aim of the present study was to identify associations between the HSP70-2 polymorphism and the clinical courses of CD and UC in Koreans. Methods:, Restriction fragment length polymorphism analysis was performed for HSP70-2 polymorphisms using the PstI-cleavage site present in the B allele but not in the A allele of the DNA obtained from 101 patients with CD, 144 patients with UC, and 245 age- and sex-matched healthy controls. Study subjects were classified by disease behavior, severity and extent of disease. Results:, In CD, multivariate analysis showed that the AA genotype of HSP70-2 polymorphisms was associated with non-perforating disease (OR 10.10, 95% CI 1.66,15.38) and male sex (OR 3.56, 95% CI 1.04,12.23), and that the BB genotype was associated with severe CD (OR 12.03, 95% CI 1.60,101.56). In contrast, multivariate analysis for UC showed that the AA genotype was associated with severe UC (OR 2.02, 95% CI 1.34,3.03). Conclusions:, CD patients with BB genotype of HSP70-2 polymorphism tend to experience a more severe clinical course and allele A is associated with more severe UC. HSP70-2 polymorphism may be used to predict CD and UC phenotypes, which can illuminate immunological differences in CD and UC. [source]

Association of vitamin D receptor genotypes with early onset rheumatoid arthritis

INTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 1 2001
J. R. Garcia-Lozano
The presence of certain vitamin D receptor (VDR) genotypes has been associated with low bone mineral density (BMD) in elderly populations as well as with accelerated bone loss in patients with rheumatoid arthritis (RA). In the present study, VDR genotypes from 120 Spanish patients with RA were investigated. Three VDR gene polymorphisms (BsmI, ApaI and TaqI) were investigated using polymerase chain reaction followed by enzymatic digestion. The distributions of VDR allelic frequencies were similar in patients and controls and therefore no influence of VDR polymorphisms on rheumatoid arthritis susceptibility could be demonstrated. However, in an analysis of the clinical features of the different VDR-related genetic subgroups, the BB/tt genotype, defined by the BsmI and TaqI restriction site polymorphisms, was identified to be weakly associated with an early onset RA in female patients. This VDR genotype has been associated with a low BMD level in various studies. When patients were stratified according to the presence of the shared HLA epitope SE, it was found that SE + female patients bearing the BB/tt genotype showed the earliest disease onset. The mechanisms by which the VDR polymorphism is associated with RA is unknown, but they could be related to the immunoregulatory properties of vitamin D. [source]