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Type 1 diabetes associated with faulty Vitamin D receptor genes – May 2013

Vitamin D receptor (VDR) gene polymorphisms and age onset in type 1 diabetes mellitus

Autoimmunity Posted online on May 30, 2013. (doi:10.3109/08916934.2013.795952)
Jaqueline De Azevêdo Silva 1,2, Rafael Lima Guimarães 1,2, Lucas André Cavalcanti Brandão 2,3, Jacqueline Araujo 4, Ludovica Segat 5, Sergio Crovella 1,2, and Paula Sandrin-Garcia 1,2
1 Department of Genetics, Federal University of Pernambuco, Recife, Pernambuco, Brazil,
2 Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco,
Recife, Pernambuco, Brazil,
3 Department of Pathology, University of Pernambuco,Recife, Pernambuco, Brazil,
4 Pediatric Endocrinology Unit of Clinical Hospital, Federal University of Pernambuco, Brazil, and
5 Institute for Maternal and Child Health - IRCCS “Burlo Garofolo” – Trieste, Italy
Correspondence:Paula Sandrin-Garcia, Department of Genetics/ Federal University of Pernambuco,Av. Moraes Rego, 1235, Recife/ Brazil CEP 50760-901. Tel/Fax: 55 8121268522. E-mail: paula.sandrin at ufpe.br

Vitamin D receptor is a mediator of immune responses through the action of vitamin D, which is capable of regulate the insulin secretion by the pancreas. Since polymorphisms in the vitamin D receptor (VDR) gene might modulate vitamin D function, and thus immunologic response, VDR is possibly able to influence the predisposition to type 1 diabetes mellitus (T1DM). The aim of this work was to perform an association study among VDR polymorphisms and T1DM susceptibility, as well as the correlation with the disease onset.

Two hundred and four T1DM patients and 217 controls, from Northeast Brazil, were genotyped for five tagSNPs, covering the whole VDR gene.

Our results indicated an association between rs1540339 and rs4760648 SNPs (p = 0.02 and p = 0.03, respectively) and T1DM.

No association was found with T1DM onset and age at diagnose. To our knowledge, this is the first association study in T1DM where the whole VDR gene was analyzed, and our results indicate that VDR polymorphisms could be important for T1DM susceptibility, but do not seem to be associated to age at disease onset.


See also VitaminDWiki

Pages listed in BOTH of the categories Diabetes and Vitamin D Receptor

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