Abstract

Type 2 diabetes mellitus (T2DM) is the most prevalent component of metabolic syndrome. Environmental factors and various complex genes like transcription factor 7-like 2 (TCF7L2) gene have involved in the disease development. To determine TCF7L2 genetic association (rs7903146C/T and rs12255372G/T) in T2DM patients of Khyber Pakhtunkhwa population of Pakistan. This study comprised of 176 subjects including 118 T2DM patients and 58 healthy controls. Genomic DNA was extracted and genotype of common variants (rs7903146 C/T and rs12255372 G/T) was carried out by amplification-refractory mutation system (ARMS)-PCR of sequence specific oligonucleotides. The distribution of genotype of TCF7L2 SNPs (rs7903146 C/T and rs12255372 G/T) was significantly associated with T2DM as compared to the controls (p <0.0001). The genetic models of the rs7903146 (C/T) and rs12255372 (G/T) SNPs were significantly associated between cases and controls (p <0.0001). On the other hand, the significant association was observed between the two SNPs and different biochemical parameters like serum fasting glucose, lipid profile, creatinine and blood HbA1c levels (p <0.05). It is concluded that the SNPs of the TCF7L2 gene are significantly associated with T2DM disease susceptibility in the population of Khyber Pakhtunkhwa of Pakistan.

Highlights

  • Type 2 diabetes mellitus (T2DM) is the most prevalent component of metabolic syndrome

  • It is concluded that the Single nucleotide Polymorphism (SNPs) of the transcription factor 7-like 2 (TCF7L2) gene are significantly associated with T2DM disease susceptibility in the population of Khyber Pakhtunkhwa of Pakistan

  • Most of the variables were significantly different in T2DM cases as compared to controls (p 0.05)

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Summary

Introduction

Type 2 diabetes mellitus (T2DM) is the most prevalent component of metabolic syndrome. Objective: To determine TCF7L2 genetic association (rs7903146C/T and rs12255372G/T) in T2DM patients of Khyber Pakhtunkhwa population of Pakistan. Conclusion: It is concluded that the SNPs of the TCF7L2 gene are significantly associated with T2DM disease susceptibility in the population of Khyber Pakhtunkhwa of Pakistan. Type 2 diabetes mellitus (T2DM) is the most frequent type of diabetes which can develop metabolic syndrome due to the basic dysfunctions of insulin (resistance or lack of secretion). TCF7L2 gene is localized on chromosome 10q25 and it encodes 215.9 kb nucleotide sequence[11] This gene plays role in Wnt-signaling pathway[12] and affects the insulin resistance[13]. Genetic polymorphism of TCF7L2 gene has been widely investigated in different populations like Chinese, White Europeans, Israeli, African-American, Argentinians, West

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