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Ramasamy Thirunavukkarasu1, Arthur Joseph Asirvatham2, Ayyappan Chitra3

  • 1Madurai Kamaraj University, School of Biological Sciences, Department of Immunology, Madurai, India

Journal of Clinical Research in Pediatric Endocrinology
|September 11, 2018
PubMed
Summary

This study found no significant association between the SLC30A8 rs13266634 C/T gene variant and type 1 diabetes (T1D) in Tamil Nadu children. Further meta-analysis also did not support a link between this polymorphism and T1D development.

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Area of Science:

  • Genetics
  • Immunology
  • Endocrinology

Background:

  • Type 1 diabetes (T1D) is an autoimmune disease affecting pancreatic beta cells.
  • Zinc transporter 8 (ZnT8), encoded by SLC30A8, is a novel auto-antigen in T1D.
  • The SLC30A8 gene is located on chromosome 8q24.11.

Purpose of the Study:

  • To investigate the association of the SLC30A8 rs13266634 C/T gene polymorphism with T1D in a South Indian pediatric cohort.
  • To determine if this specific genetic variation influences T1D susceptibility.

Main Methods:

  • A family-based study design was employed, including 121 T1D patients and 214 family members as controls.
  • Genotyping of the SLC30A8 rs13266634 C/T polymorphism was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Keywords:
Type 1 diabetesauto-antigenpolymorphismszinc transporter 8 autoantibodymeta-analysis

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  • A transmission disequilibrium test (TDT) and meta-analysis were conducted to assess allele and genotype frequencies and their association with T1D.

    • Main Results:

    • No statistically significant differences were observed in allele or genotype frequencies of the rs13266634 C/T polymorphism between T1D patients and controls.
    • The transmission disequilibrium test showed no significant over-transmission of the mutant T allele from parents to affected children.
    • Meta-analysis results also indicated no significant difference in the rs13266634 C allele frequency between T1D patients and controls.

    Conclusions:

    • The study concludes that the SLC30A8 rs13266634 C/T polymorphism is not substantially associated with the development of type 1 diabetes in the studied Tamil Nadu population.
    • Combined analysis with meta-analysis further supports the lack of a significant link between this genetic variant and T1D in this cohort.