title: Vitamin D receptor gene polymorphisms/haplotypes and serum 25(OH)D3levels in Hashimoto's thyroiditis.
abstract: Vitamin D deficiency and/or reduced function, as per certain polymorphisms of the vitamin D receptor (VDR) gene, have been related to several autoimmune disorders. The present study was aimed to investigate the association of Hashimoto's thyroiditis with vitamin D status and functional polymorphisms (SNPs) of the VDR gene. In this case-control study, 200 euthyroid subjects were enrolled: 100 newly diagnosed HT patients (87 F, 13 M; mean age ± SD 42 ± 15 year) and 100 healthy individuals, matched for age, sex, BMI, and month of blood sampling. Serum 25(OH)D3was measured by HPLC. The VDR SNPs BsmI, ApaI, and TaqI, in strong linkage disequilibrium with each other, were detected by restriction fragment length polymorphism-PCR. The prevalence of vitamin D deficiency in HT patients was significantly higher than that in the control group (70 vs 18.2 %; p < 0.0001), and median serum 25(OH)D3level was significantly lower in HT patients than controls (median value: 16.2 vs 37.4 ng/ml; p = 0.026). Moreover, there was a significant inverse correlation between serum 25(OH)D3and TPOAb concentration (r = -0.669; p = 0.034). Contrarily, the genotype distribution of the studied SNPs was not different in the two groups (BsmI p = 0.783; ApaI p = 0.512; TaqI p = 0.471), as was the allelic frequency [f(B) p = 0.776, f(b) p = 0.887; f(A) p = 0.999, f(a) p = 0.999; f(T) p = 0.617; f(t) p = 0.617]. The present study first investigates newly diagnosed untreated HT and suggests that vitamin D deficiency may contribute to HT development and/or progression, acting as an environmental trigger, while the VDR locus does not appear to be involved in conditioning the genetic susceptibility to the disease, at least in Caucasians.
authors.affiliation: Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico "G. Martino" (Pad H, Floor 4), Via Consolare Valeria, 1, 98125, Messina, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Giovinazzo
authors.affiliation: Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico "G. Martino" (Pad H, Floor 4), Via Consolare Valeria, 1, 98125, Messina, Italy.
authors.forename: Teresa M
authors.initials: TM
authors.lastname: Vicchio
authors.affiliation: Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico "G. Martino" (Pad H, Floor 4), Via Consolare Valeria, 1, 98125, Messina, Italy.
authors.forename: Rosaria
authors.initials: R
authors.lastname: Certo
authors.affiliation: Department of Economics, University of Messina, Messina, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Alibrandi
authors.affiliation: Casa Sollievo Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy.
authors.forename: Orazio
authors.initials: O
authors.lastname: Palmieri
authors.affiliation: Department of Biomedical Sciences and Morpho-Functional Imaging, University of Messina, Messina, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Campennì
authors.affiliation: Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico "G. Martino" (Pad H, Floor 4), Via Consolare Valeria, 1, 98125, Messina, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Cannavò
authors.affiliation: Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico "G. Martino" (Pad H, Floor 4), Via Consolare Valeria, 1, 98125, Messina, Italy.|Accademia Peloritana dei Pericolanti, University of Messina, Messina, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Trimarchi
authors.affiliation: Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico "G. Martino" (Pad H, Floor 4), Via Consolare Valeria, 1, 98125, Messina, Italy. rmruggeri@unime.it.
authors.forename: Rosaria Maddalena
authors.initials: RM
authors.lastname: Ruggeri
mesh_terms: D000328:Adult; D000368:Aged; D002112:Calcifediol / Q000097:blood*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D050031:Hashimoto Disease / Q000097:blood* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D055815:Young Adult
chemical_list: D018167:Receptors, Calcitriol; D002112:Calcifediol
keywords: Autoimmunity; Hashimoto’s thyroiditis; Single nucleotide polymorphisms; Vitamin D; Vitamin D receptor gene (VDR)