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Åke Lernmark

Principal investigator

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Glutamate cysteine ligase catalytic subunit promoter polymorphisms and associations with type 1 diabetes age-at-onset and GAD65 autoantibody levels.

Author

  • LM Bekris
  • C Shephard
  • M Janer
  • J Graham
  • B McNeney
  • J Shin
  • M Zarghami
  • W Griffith
  • F Farin
  • TJ Kavanagh
  • Åke Lernmark

Summary, in English

The purpose of this study was to test the hypothesis that glutamate cysteine ligase catalytic subunit (GCLC) promoter polymorphisms are susceptibility factors for type 1 diabetes (T1D), T1D age-at-onset and T1D autoantibodies. T1D patients and control subjects from the Swedish Childhood Diabetes Registry and the Swedish Diabetes Incidence Study registry were genotyped for two GCLC promoter polymorphisms; the GCLC -129 C to T single nucleotide polymorphism (GCLC -129 SNP) and the GCLC GAG trinucleotide repeat polymorphism (GCLC TNR). Glutamate decarboxylase antibody (GAD65Ab) positive T1D patients with the GCLC -129 SNP C/T genotype have increased GAD65Ab levels (p-value, <0.05) compared to the GCLC -129 SNP C/C genotype. T1D patients with an age-at-onset of 14-35 years who possess the GCLC -129 SNP T/T genotype have a higher GAD65Ab index than T1D patients with the GCLC -129 SNP C/C genotype (p-value <0.05). In addition, T1D patients with an age-at-onset of 14-35 years possess the GCLC TNR 7/8 genotype at a lower frequency than the control subjects (OR, 0.33, 95% CI, 0.13-0.82). The GCLC -129 SNP and GCLC TNR appear to be in linkage disequilibrium (p-value<0.0001). These results suggest that GCLC promoter polymorphisms may influence GAD65Ab levels and may influence the age at which T1D is diagnosed.

Department/s

  • Diabetes and Celiac Unit

Publishing year

2007

Language

English

Pages

221-228

Publication/Series

Exp Clin Endocrinol Diabetes

Volume

115

Issue

4

Document type

Journal article

Topic

  • Endocrinology and Diabetes

Keywords

  • glutathione
  • promoter polymorphisms
  • GCLC
  • type 1 diabetes

Status

Published

Research group

  • Diabetes and Celiac Unit