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Endocrine Abstracts (2015) 37 EP357 | DOI: 10.1530/endoabs.37.EP357

ECE2015 Eposter Presentations Diabetes (pathiophysiology & epitemiology) (80 abstracts)

The role of TCF7L2 polymorphism in the development of type 2 diabetes in subjects with metabolic syndrome

Konstantinos Katsoulis 1 , Stavroula Paschou 1 , Elissavet Hatzi 2 , Stelios Tigas 1 , Ioannis Georgiou 2 & Agathocles Tsatsoulis 1


1Department of Endocrinology, University of Ioannina, Ioannina, Greece; 2Laboratory of Human Reproductive Genetics, University of Ioannina, Ioannina, Greece.


Introduction: Transcription factor 7 like-2 (TCF7L2) gene variants (rs12255372 and rs7903146) have been consistently shown to raise genetic risk for type 2 diabetes (T2D). The aim of this study was to investigate the possible role of these variants in the development of dysglycemia (T2D or impaired fasting glucose (IFG)) in patients with metabolic syndrome (MS).

Patients and methods: The study population consisted of 228 patients with MS who were divided in two groups. The first group consisted of 148 patients with MS and dysglycaemia (39M/109F, 59.8±14.6 years) and the second group of 80 patients with MS without dysglycaemia (16M/64F, 56.1±15.8 years). The diagnosis of MS was based on the criteria proposed by the American Heart Association/National Heart, Lung, and Blood Institute (AHA/NHLBI) Scientific Statement. The BMI and the waist circumference were recorded and blood samples were obtained after overnight fasting for biochemical tests. The rs12255372 and rs7903146 TCF7L2 polymorphisms were genotyped in peripheral blood leucocytes.

Results: Genotype analysis revealed that the frequency of the T allele of the TCF7L2 rs12255372 variant was 38.2% in the study population, while the frequency of the T allele of rs7903146 variant was 35.3%. The T allele of rs12255372 was more frequently present in patients with MS and dysglycaemia (48.3%) compared to patients with MS without dysglycaemia (19.4%) (OR: 3.89, 95% CI: 2.47–6.12, P<0.0001). Also, the T allele of the rs7903146 variant was more frequently found in patients with MS and dysglycemia (44.6%) compared to patients with MS without dysglycaemia (18.1%) (OR: 3.64, 95% CI: 2.29–5.78, P<0.0001).

Conclusion: The presence of variants rs12255372 and rs7903146 of the TCF7L2 gene is associated with dysglycaemia (IFG and/or T2D) in patients with MS.

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