Prevalence of vitamin D receptor gene polymorphisms FokI and BsmI in Brazilian individuals with type 1 diabetes and their relation to β-cell autoimmunity and to remaining β-cell function

• Published in: Human immunology Vol. 70; no. 6; pp. 447 - 451
• Main Authors: Mory, Denise B, Rocco, Eloá R, Miranda, Walkíria L, Kasamatsu, Teresa, Crispim, Felipe, Dib, Sérgio A
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-06-2009
• Subjects: Adolescent; Allergy and Immunology; Autoimmunity; Beta cell autoimmunity; Beta cell function; Brazil; Child; Diabetes Mellitus, Type 1 - genetics; Diabetes Mellitus, Type 1 - immunology; Female; Genetic Predisposition to Disease; Humans; Insulin-Secreting Cells - immunology; Male; Polymorphism, Single Nucleotide; Receptors, Calcitriol - genetics; Type 1 diabetes; Vitamin D receptor gene; Young Adult; Brazil; Beta cell function; Beta cell autoimmunity; Type 1 diabetes; Vitamin D receptor gene
• ISSN: 0198-8859; 1879-1166
• DOI: 10.1016/j.humimm.2009.03.007

Abstract The effect of the vitamin D receptor (VDR) gene polymorphisms on susceptibility to type 1 diabetes (T1DM) is heterogeneous. Genetic factors may also influence the residual β-cell function. We studied the frequency of VDR FokI (rs10735810) and BsmI ( rs154410) polymorphisms in T1DM and their relationship to β-cell autoimmunity and residual β-cell function. We genotyped 189 T1DM (diabetes duration, 7.1 ± 5.4 years) and 194 controls (C) by restriction length polymorphism–polymerase chain reaction. GAD65Ab, IA2Ab, ionized calcium ( i Ca), HbA1c and fasting C-peptide (FCP) were evaluated. FCP values greater than 0.6 ng/ml were considered as residual β-cell function. The BsmI was more frequent in the C (bb plus Bb 79.1 C vs. 66.1% T1DM, p = 0.006), and the FokI polymorphism frequencies were similar between T1DM and C. We did not observe differences in pancreatic autoantibody profiles according to VDR genotypes. We observed that T1DM with f allele tended to have lower residual pancreatic β-cell function (5.8% ff and Ff vs. 14.3% FF, p = 0.074) with similar age, diabetes duration, AAb positivity, HbA1c , and i Ca. Age at diagnosis of T1DM with BsmI polymorphism tended to be greater (10.7 ± 4.9 bb and Bb vs. 9.3 ± 4.5 years BB, p = 0.06). In conclusion, the results of this study showed no relationship between VDR polymorphisms and β-cell autoimmunity; however we observed a relationship with age and remaining β-cell function in Brazilian individuals with T1DM. These data may contribute to understanding the heterogeneous relationship between genetic markers and clinical features observed in this disease.