Reference : Association between a gene variant near ataxia telangiectasia mutated and coronary ar...
Scientific journals : Article
Life sciences : Biochemistry, biophysics & molecular biology
Association between a gene variant near ataxia telangiectasia mutated and coronary artery disease in men.
Schiekofer, Stephan [> >]
Bobak, Izabela [> >]
Kleber, Marcus E. [> >]
Maerz, Winfried [> >]
Rudofsky, Gottfried [> >]
Dugi, Klaus A. [> >]
Schneider, Jochen mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) >]
Diabetes and Vascular Disease Research
Yes (verified by ORBilu)
[en] Aged ; Aged, 80 and over ; Ataxia Telangiectasia Mutated Proteins/genetics/metabolism ; Blood Glucose/analysis ; Cohort Studies ; Coronary Angiography ; Coronary Artery Disease/blood/genetics/metabolism/radiography ; Coronary Vessels/radiography ; Cross-Sectional Studies ; Gene Frequency ; Genetic Association Studies ; Genetic Loci ; Germany ; Hospitals, University ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Severity of Illness Index ; Statistics as Topic ; Vascular disease ; co-morbidities ; metabolic syndrome
[en] OBJECTIVE: Type 2 diabetes is accompanied by increased mortality from coronary artery disease (CAD), but the mechanisms linking these conditions remain elusive. Hence, treatment of hyperglycaemia alone is not sufficient to avoid CAD in diabetes. Alternative views suggest that metabolic and vascular diseases share unifying cellular defects that could serve as targets for novel therapeutic strategies. Recently, a variant [single-nucleotide polymorphism (SNP); rs11212617] near the gene for ataxia telangiectasia mutated (ATM) has been associated with glycaemic response to metformin. MATERIALS AND METHODS: We determined rs11212617 in 240 male patients who underwent elective coronary angiography. RESULTS: While the variant was not associated with glucose concentrations, the A allele was significantly associated with the presence of CAD (chi-square, p = 0.003), as well as with logarithmically transformed quantitative CAD indices [severe score (SS): 0.5 (0.4-0.6) vs 0.3 (0.2-0.5); extent score (ES): 2.63 (2.4-2.9) vs 1.94 (1.4-2.4), both p < 0.05, respectively]. Multivariate analysis revealed an independent association between the A allele with ES (beta = 0.17, p < 0.01). CONCLUSION: Our data suggest that ATM-dependent signalling might play a role in the development of atherosclerotic vascular disease, but larger studies are necessary to substantiate such a hypothesis.
Luxembourg Centre for Systems Biomedicine (LCSB): Medical Translational Research (J. Schneider Group)

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