ECE2020 Audio ePoster Presentations Hot topics (including COVID-19) (110 abstracts)
Assessment of association between VDR variants and type 2 diabetes in an elderly greek population
Xanthippi Tsekmekidou 1 , Fotis Tsetsos 2 , Theocharis Koufakis 1 , Maria Grammatiki 1 , Marianthi Georgitsi 3 , Athanasios Roumeliotis 4 , Stylianos Panagoutsos 4 , Elias Thodis 4 , Marios Theodoridis 4 , Nikolaos Papanas 5 , Dimitrios Papazoglou 5 , Ploumis Pasadakis 4 , Peristera Paschou 2 , Pantelis Zebekakis 1 & Kalliopi Kotsa 1
1Division of Endocrinology and Metabolism and Diabetes Center, First Department of Internal Medicine, Medical School, Aristotle University of Thessaloniki, AHEPA University Hospital, Thessaloniki, Greece; 2Department of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece; 31st Laboratory of Medical Biology-Genetics, Department of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece; 4Department of Nephrology, Democritus University of Thrace, Alexandroupolis, Greece; 5Diabetes Centre, Second Department of Internal Medicine, Democritus University of Thrace, Alexandroupolis, Greece
Background: Vitamin D receptor (VDR) in the presence of active calcitriol (1.25--dihydroxy vitamin D) acts as a transcription factor that modulates the gene expression oftransport proteins, which are involved in calcium metabolism. Accumulating evidence suggest apotential implication of vitamin D deficiency in the pathogenesis of diabetes mellitus. We aimed toassess whether variants in the VDR gene contribute to risk of Type 2 Diabetes Mellitus (T2DM).
Methods: Twenty-five polymorphisms within VDR gene were genotyped in 716 patients with T2DM (group A) and 569 controls (group B) of Greek origin, 393 of which withoutprediabetes (group C). Group B consisted of elderly above 65 years of age with documentedabsence of T2DM (HbA1c < 6.5% and fasting plasma glucose (FPG) < 126 mg/dl). Participants from group B with HbA1c levels < 5.7% and FPG < 100 mg/dl were selected to form a control subgroup (group C). DNA samples were collected after informed consent was obtained and they were analyzed on Illumina Human PsychArray. After quality control, polymorphisms in VDR gene were selectedand allele frequencies between groups were compared. Permutation test analysiswas implemented to determine statistical significance. P-values <0.05 were regarded as significant.
Results: Two analyses were undertaken. The first, between group A and group B revealed nosignificant association between T2DM and VDR variants with either recessive or dominant model. The second, between group A and group C showed that rs7967152 (P = 0.0276, OR = 1.234)associated significantly with T2DM. Recessive model analysis revealed that AA genotype ofrs7967152 (P = 0.027, OR = 1.543) and TTgenotype of rs12301817 associated significantly with disease (P = 0.037, OR = 0.494).
Conclusion: Our results are indicative of the complexity of T2DM geneticsusceptibility and partly reflect the controversy in the literature regarding the role of vitamin D metabolism in T2DM pathogenesis. Further studies are required to replicate our findings and clarify any complexunderlying mechanisms of action that could contribute to T2DM development.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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