Vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Crete, Greece

• Published in: Clinical immunology (Orlando, Fla.) Vol. 133; no. 2; pp. 276 - 281
• Main Authors: Panierakis, Charalambos, Goulielmos, George, Mamoulakis, Dimitris, Petraki, Eleni, Papavasiliou, Efstathios, Galanakis, Emmanouil
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier Inc 01.11.2009; Elsevier
• Subjects: Allergy and Immunology; Biological and medical sciences; Child; Crete; Diabetes mellitus; Diabetes Mellitus, Type 1 - epidemiology; Diabetes Mellitus, Type 1 - genetics; Diabetes. Impaired glucose tolerance; Endocrine pancreas. Apud cells (diseases); Endocrinopathies; Environmental factors; Etiopathogenesis. Screening. Investigations. Target tissue resistance; Female; Fundamental and applied biological sciences. Psychology; Fundamental immunology; Gene Frequency - genetics; Gene polymorphism; Genetic susceptibility; Genotype; Greece - epidemiology; Haplotypes - genetics; Humans; Islands; Male; Medical sciences; Odds Ratio; Polymerase chain reaction; Polymorphism, Single Nucleotide - genetics; Prevalence; Receptors, Calcitriol - genetics; Restriction fragment length polymorphism; Single nucleotide polymorphism; Type 1 diabetes; Vitamin D receptor; Vitamin D receptors; Greece; Crete; Europe; Crete; Single nucleotide polymorphism; Genetic susceptibility; Type 1 diabetes; Vitamin D receptor; Endocrinopathy; Immunopathology; Genetic variability; Autoimmune disease; Genotype; D gene; Sensitivity; Immunology; Vitamin D; Genetics; Biological receptor
• ISSN: 1521-6616; 1521-7035
• DOI: 10.1016/j.clim.2009.08.004

Abstract Introduction Association studies of vitamin D receptor ( VDR ) polymorphisms and risk of type 1 diabetes (T1D) have produced inconsistent results in different populations, pointing to contribution of additional genetic variants and environmental factors. In this study we investigated the association between four VDR polymorphisms and susceptibility to T1D in Crete, an island with homogenous population and considerably low incidence of T1D. Results and discussion We genotyped 100 patients with T1D and 96 controls for the Fok I (rs10735810), Bsm I (rs1544410), Apa I (rs7975232), and Taq I (rs731236) single nucleotide polymorphisms by polymerase chain reaction and restriction fragment length polymorphism analysis. In all 4 polymorphisms tested, distribution of VDR genotype frequencies differed significantly between patients and controls. Individuals with T1D presented less commonly with Fok I F allele ( p = 0.008; OR 0.52, 95% CI 0.32 to 0.85) and Bsm I B allele ( p = 0.042; OR 0.65, 95% CI 0.44 to 0.97) and more commonly with Apa I A allele ( p = 0.024; OR 1.61, 95% CI 1.07 to 2.41) and Taq I T allele ( p = 0.0001; OR 2.24, 95% CI 1.49 to 3.36). Conclusion Our findings derived from a homogenous southern European population with low incidence of T1D suggest that Fok I, Bsm I, Apa I, and Taq I polymorphisms of the VDR gene are associated with T1D prevalence.