Balkan Journal of Medical Genetics

ASSOCIATION OF VDR GENE VARIANT (rs1544410) WITH TYPE 2 DIABETES IN A PAKISTANI COHORT
Khan A1, Khan S2, Aman A1, Ali Y1, Jamal M3, Rahman B4, Ahmad M4, Aasim M4, Jalil F1,*, Shah AA4
*Corresponding Author: Dr. Fazal Jalil, Department of Biotechnology, Abdul Wali Khan University Mardan, Toru Road, Near Sheikhmaltoon Twon 23300, Mardan, Khyber-Pakhtunkhwa Province, Pakistan. E-mail: fazaljalil@awkum.edu.pk
page: 59

INTRODUCTION

Diabetes mellitus type 2 (T2DM) is a multifactorial metabolic disorder, regulated by both genetic and environmental factors [1]. It is a chronic disease that is associated with the incapability of tissues such as liver and skeletal muscles to respond to insulin. Several genetic, as well as environmental factors, contribute to the etiology of T2DM [1]. One of them is vitamin D. Vitamin D deficiency appears to be related to the development of T2DM and metabolic syndrome [2]. Recent studies have shown that high vitamin D status offers protection against T2DM. Vitamin D has important biological functions including modifying insulin secretion and refining insulin resistance [3]. It is a hormone precursor and it has been found to be associated with various metabolic disorders [4]. Its deficiency results in reduced insulin secretion in humans. The frequency of T2DM is exponentially increasing at high rate globally [5]. The survey conducted by the National Diabetes Survey of Pakistan (NDSP 2016-2017) showed that the incidence of diabetes is about 26.3% in Pakistan [6]. It is already known that vitamin D deficiency is linked with glucose intolerance, insulin resistance, metabolic syndrome, and increases the risk for diabetes [7]. Vitamin D receptor (VDR) is a steroid family member that acts as a transcriptional activator of several genes [8]. The VDR primarily acts as a transcription factor. The VDR gene on situated on chromosome 12q12-14. It consists of eight protein-coding exons (exons 2 to 9) and six untranslated exons that spliced alternatively [9]. It has been investigated that polymorphisms in the VDR gene are associated with diabetes susceptibility. Previous studies have shown the connection of VDR polymorphism with T2DM, however, their frequency remained different across a diverse population [10]. Several techniques are being developed for the identification of single nucleotide polymorphisms (SNPs) but most of them are either expensive or have low sensitivity. Allele-specific polymerase chain reaction (PCR) is one of the less expensive and highly sensitive techniques widely used for the detection for the SNP in several species [11]. The aim of the current study was to detect the association between the rs1544410 polymorphism of the VDR gene and T2DM in Pakistani patients using allele-specific PCR.

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