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Vitamin D level and gene polymorphisms in Korean children with type 1 diabetes

Hyo-Kyoung Nam1, Young-Jun Rhie2, Kee-Hyoung Lee3

  • 1Department of Pediatrics, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Korea.

Pediatric Diabetes
|June 18, 2019
PubMed

Insights

Vitamin D levels are lower in children with type 1 diabetes. Specific gene variations in CYP2R1 are linked to increased type 1 diabetes risk and vitamin D deficiency in Korean children.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Vitamin D metabolism is implicated in type 1 diabetes pathogenesis.
  • Understanding genetic factors influencing vitamin D levels is crucial for diabetes research.

Purpose of the Study:

  • To investigate the association between vitamin D metabolism genes (CYP2R1 and CYP27B1) and type 1 diabetes risk in Korean children.
  • To analyze the relationship between specific gene polymorphisms and vitamin D levels in children with and without type 1 diabetes.

Main Methods:

  • A case-control study involving 252 Korean children (96 with type 1 diabetes, 156 healthy controls).
  • Measurement of serum 25-hydroxyvitamin D (25OHD) and 1α,25-dihydroxyvitamin D [1α,25(OH)2D] levels.
  • Genotyping of CYP2R1 and CYP27B1 polymorphisms, including CYP2R1 rs12794714 and rs10766196.

Main Results:

  • Children with type 1 diabetes exhibited lower mean vitamin D levels and higher prevalence of vitamin D deficiency compared to controls.
  • Specific CYP2R1 genotypes (rs12794714 GG and rs10766196 AA) were significantly associated with an increased risk of type 1 diabetes.
  • These CYP2R1 genotypes were also linked to a higher prevalence of vitamin D deficiency in children with type 1 diabetes.

Conclusions:

  • Lower serum 25OHD and 1α,25(OH)2D levels are observed in Korean children with type 1 diabetes.
  • CYP2R1 gene polymorphisms (rs12794714 and rs10766196) are associated with increased susceptibility to type 1 diabetes.
  • Genetic variations in vitamin D metabolism may play a role in the development of type 1 diabetes in this population.
Abstract

Keywords:
single nucleotide polymorphismtype 1 diabetes mellitusvitamin D

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