Association of Polymorphisms in the Insulin Signaling Pathway (INS, INSR, and IRS1) in Diabetes Mellitus: A Scoping Review.

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Authors: Marcel Henrique Marcondes Sari, Geraldo Picheth, Marciane Welter, Fabiane Gomes de Moraes Rego, Dayane Ferreira Aguiar
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Abstract

Diabetes mellitus is a multifactorial disease influenced by both environmental and genetic factors, with type 1 and type 2 diabetes being the most prevalent forms. Growing evidence indicates that genetic polymorphisms, particularly single nucleotide polymorphisms (SNPs), play a significant role in disease susceptibility, development, and progression by affecting gene expression and function. In addition, genetic risk scores (GRS) have emerged as valuable tools for diabetes classification and risk stratification when combined with clinical features and plasma biomarkers. In this context, considering the genetic diversity and the limited number of studies in the Brazilian population, this scoping review aims to evaluate the association of the insulin gene (INS), the insulin receptor gene (INSR), and insulin receptor substrate 1 (IRS1) with the risk of developing type 1 and type 2 diabetes mellitus.

Fields of Study & Subjects

Genetic Associations and Epidemiology Diabetes and associated disorders Genetic Mapping and Diversity in Plants and Animals

Publication details

Publication date
1 January 2026
Language
EN
Document type
Preprint