PIK3R1 gene polymorphisms are associated with type 2 diabetes and related features in the Turkish population

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Karadogan A. H. , Arikoglu H., Gokturk F., İŞÇİOĞLU F. , Ipekci S. H.

ADVANCES IN CLINICAL AND EXPERIMENTAL MEDICINE, vol.27, no.7, pp.921-927, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 7
  • Publication Date: 2018
  • Doi Number: 10.17219/acem/68985
  • Title of Journal : ADVANCES IN CLINICAL AND EXPERIMENTAL MEDICINE
  • Page Numbers: pp.921-927
  • Keywords: type 2 diabetes, single nucleotide polymorphisms, PIK3R1 gene, PHOSPHATIDYLINOSITOL 3-KINASE, INSULIN-RESISTANCE, PHOSPHOINOSITIDE 3-KINASE, REGULATORY SUBUNIT, INHIBITION, EXPRESSION, P85-ALPHA, VARIANTS, PATHWAYS, MUSCLE

Abstract

Background. The phosphatidylinositol 3-kinase p85 alpha regulator subunit 1 gene (PIK3R1) encodes the PIK3R1 protein, which plays a direct role in insulin signaling. PIK3R1 (p85 regulatory subunit) connects firmly with the p110 catalytic subunit, and together these proteins form the phosphatidylinositol 3-kinase (PI3K) protein. PI3K is a key protein in the Akt signaling pathway, which regulates cell survival, growth, differentiation, glucose trafficking, and utilization. Defects in the insulin signaling cascade play an important role in the development of insulin resistance, which shares a common genetic basis for metabolic diseases such as type 2 diabetes (T2D), obesity and cardiovascular diseases.