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Genes 2017, 8(4), 125; doi:10.3390/genes8040125

Inherited Variation in Vitamin D Genes and Type 1 Diabetes Predisposition

Division of Endocrinology, Diabetes and Metabolism, Department of Medicine 1, University Hospital Frankfurt, Theodor-Stern-Kai 7, D-60590 Frankfurt am Main, Germany
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Academic Editor: Bernhard O. Boehm
Received: 7 February 2017 / Revised: 11 April 2017 / Accepted: 12 April 2017 / Published: 20 April 2017
(This article belongs to the Special Issue Genetics and Functional Genomics of Diabetes Mellitus)
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Abstract

The etiology and pathophysiology of type 1 diabetes remain largely elusive with no established concepts for a causal therapy. Efforts to clarify genetic susceptibility and screening for environmental factors have identified the vitamin D system as a contributory pathway that is potentially correctable. This review aims at compiling all genetic studies addressing the vitamin D system in type 1 diabetes. Herein, association studies with case control cohorts are presented as well as family investigations with transmission tests, meta-analyses and intervention trials. Additionally, rare examples of inborn errors of vitamin D metabolism manifesting with type 1 diabetes and their immune status are discussed. We find a majority of association studies confirming a predisposing role for vitamin D receptor (VDR) polymorphisms and those of the vitamin D metabolism, particularly the CYP27B1 gene encoding the main enzyme for vitamin D activation. Associations, however, are tenuous in relation to the ethnic background of the studied populations. Intervention trials identify the specific requirements of adequate vitamin D doses to achieve vitamin D sufficiency. Preliminary evidence suggests that doses may need to be individualized in order to achieve target effects due to pharmacogenomic variation. View Full-Text
Keywords: immune modulation; pharmacogenomics; nuclear hormone action immune modulation; pharmacogenomics; nuclear hormone action
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Penna-Martinez, M.; Badenhoop, K. Inherited Variation in Vitamin D Genes and Type 1 Diabetes Predisposition. Genes 2017, 8, 125.

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