Analysis of vitamin D receptor gene (VDR) polymorphisms in Turner syndrome patients

Analysis of vitamin D receptor gene (VDR) polymorphisms in Turner syndrome patients

Author Bianco, Bianca Autor UNIFESP Google Scholar
Verreschi, Ieda T. N. Autor UNIFESP Google Scholar
Oliveira, Kelly Cristina de Autor UNIFESP Google Scholar
Guedes, Alexis D. Autor UNIFESP Google Scholar
Barbosa, Caio P. Google Scholar
Lipay, Monica V. N. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Fac Med ABC
Abstract Individuals with Turner syndrome (TS) have increased risk for autoimmune diseases, especially thyroid abnormalities. the function of the vitamin D receptor (VDR) gene is influenced by several genetic polymorphisms which are associated with a susceptibility to a range of autoimmune diseases. Thus, we have hypothesized a possible relationship between thyroid abnormalities and VDR polymorphisms (ApaI/G1025-49T, TaqI/T1056C, FokI/T2C and BsmI G1024 + 283A) in TS patients. A case-control study was performed comprising 101 Brazilian women with TS and a control group consisting of 133 healthy fertile women without a history of autoimmune diseases. in TS group, 21.8% had Hashimoto's thyroiditis. Detection of VDR polymorphisms was performed using TaqMan system by real-time PCR. the chi(2) was used to compare allele and genotype frequencies between groups. Combined genotypes of VDR gene polymorphisms were assessed by the haplotype analysis. A p value <0.05 was considered statistically significant. Relatively similar VDR polymorphisms genotype and allelic frequencies in cases and controls were found, even when only considering the patients with thyroid abnormalities. Haplotype analysis showed that none of the VDR haplotypes were associated to thyroid diseases in TS patients. in conclusion, the results showed no association between VDR gene polymorphisms and thyroid abnormalities in Brazilian TS patients tested.
Keywords Autoimmune disease
gene VDR
Turner syndrome
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Grant number FAPESP: 2009/05250-0
Date 2012-04-01
Published in Gynecological Endocrinology. New York: Informa Healthcare, v. 28, n. 4, p. 326-329, 2012.
ISSN 0951-3590 (Sherpa/Romeo, impact factor)
Publisher Informa Healthcare
Extent 326-329
Access rights Closed access
Type Article
Web of Science ID WOS:000301588400020

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