Genetic association of insulin receptor substrate-1 (IRS-1, rs1801278) gene with insulin resistant of type 2 diabetes mellitus in a Pakistani population

• Published in: Molecular biology reports Vol. 46; no. 6; pp. 6065 - 6070
• Main Authors: Albegali, Abdullah Abdo, Shahzad, Muhammad, Mahmood, Saqib, Ullah, Muhammad Ikram
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01-12-2019; Springer Nature B.V
• Subjects: Adult; Alleles; Animal Anatomy; Animal Biochemistry; Arginine; Biomedical and Life Sciences; Body weight; Case-Control Studies; Diabetes; Diabetes mellitus; Diabetes mellitus (non-insulin dependent); Diabetes Mellitus, Type 2 - genetics; Diabetes Mellitus, Type 2 - metabolism; Ethnic Groups; Female; Gene frequency; Gene Frequency - genetics; Gene polymorphism; Genetic Association Studies - methods; Genetic Predisposition to Disease - genetics; Genotype; Glycine; Histology; Humans; Insulin; Insulin - genetics; Insulin receptor substrate 1; Insulin Receptor Substrate Proteins - genetics; Insulin Receptor Substrate Proteins - metabolism; Insulin resistance; Insulin Resistance - genetics; Insulin Resistance - physiology; IRS-1 gene; Life Sciences; Male; Middle Aged; Morphology; Mutation; Obesity - genetics; Original Article; Overweight; Pakistan - epidemiology; Polymorphism; Polymorphism, Single Nucleotide - genetics; Prevalence; Signal transduction; Single-nucleotide polymorphism; Pakistan; Insulin resistance substrate-1; Type 2 diabetes mellitus (T2DM); gene; Pakistani population; Insulin resistance; -; Polymorphism; Insulin resistance substrate-1 (IRS-1) gene
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-019-05041-w

Insulin resistance (IR), a pathological condition of type 2 diabetes mellitus (T2DM) is characterized by an inability of body’s tissue to respond the secreted or administered insulin, a necessary step for cellular glucose transportation. The prevalence of insulin resistance progresses with age, especially in overweight people with central obesity. Insulin receptor substrates (IRS) are important molecular proteins in the insulin signalling pathway, where IRS-1 plays a key function in cells insulin sensitivity. The common mutation (rs1801278; r.2963G > A: Gly972Arg) of the
IRS
-
1
gene occurs when residue glycine changes to arginine at codon 972. The objective of this study was to detect the genetic association of rs1801278 polymorphism of the
IRS
-
1
gene with insulin resistance in type 2 diabetes from the Lahore region of Pakistan. A total of 322 subjects (161 cases and 161 healthy individuals) were included. DNA was isolated for detection of the genotype distribution and allele frequencies by PCR–RFLP. The results showed a significant difference in the genotype distribution and allele frequency between the T2DM cases and controls for single nucleotide polymorphism (SNP) rs1801278 (OR 17.61, 95% CI 8.06–38.4,
p
 < 0.001). In conclusion, association between rs1801278 polymorphism of the
IRS
-
1
gene and insulin resistance in T2DM has been established in a Pakistani population.