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Association of ABCC8 and KCNJ11 gene variants with type 1 diabetes in south Indians

  • Reddy, Shilpa1
  • Maddhuri, Sailaja1
  • Nallari, Pratibha1
  • Ananthapur, Venkateshwari1
  • Kalyani, Srinivas2
  • Krishna, Murali2
  • Cherkuri, Nirmala2
  • Patibandala, Sireesha2
  • 1 Osmania University, Begumpet, Hyderabad, 500016, India , Hyderabad (India)
  • 2 Niloufer Hospital, Red Hills, Lakdikapul, Hyderabad, Telangana, 500004, India , Hyderabad (India)
Published Article
Egyptian Journal of Medical Human Genetics
Springer Berlin Heidelberg
Publication Date
Apr 12, 2021
DOI: 10.1186/s43042-021-00149-w
Springer Nature


BackgroundType 1 diabetes mellitus (TIDM) is a polygenic disorder with the involvement of several genetic and environmental risk factors. Mutation in genes namely ABCC8 and KCNJ11 disrupt the potentiality of KATP channel and regulates the secretion of insulin by detecting a change in the blood glucose level and consequently maintains glucose homeostasis. The present study was designed to investigate the association of ABCC8 and KCNJ11gene polymorphisms with type 1 diabetes. A case-control study was conducted enrolling 60 cases suffering from T1DM and 60 healthy controls of comparable age and sex. Gene variations were determined by PCR-RFLP and ARMS-PCR method.ResultsThe ABCC8-3C > T (rs1799854) variation was found to be significantly associated with T1DM (p<0.01) and “CT” genotype was found to be predominant in T1DM with a threefold increased risk to diabetes and the association was statistically significant. However, we did not find any significant association of C>T (rs1801261) polymorphism of ABCC8 with T1DM. A significant association was observed for genetic variation at rs5219 C>T polymorphism and the frequency of TT genotype was found to be significantly higher in patients (46.7%) than in controls (21.7%), indicating the significant role of the KCNJ11 rs5219 variant in T1DM susceptibility (p<0.001), but we did not observe any significant association of G>A (rs5215) polymorphism of KCNJ11 with T1DM. In addition, haplotype analysis of the two genes revealed four haplotypes such as T-C-G-T, T-C-A-T, C-C-G-T, and T-T-G-T as risk haplotypes for type 1 diabetes (p<0.02) potentially making individual effects of these variants on the disease susceptibility, thereby indicating the synergistic role of these genes in the regulation of glucose homeostasis.ConclusionsThe present study highlights the importance of personalized medicine based on individual genetic profile.

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