doi.org/10.36721/PJPS.2020.33.2.REG.605-610.1 Pak. J. Pharm. Sci., Vol.33, No.2, March 2020, pp.605-610 605 Vitamin D receptor FokI polymorphism in a Pakistani population with type 2 diabetes mellitus Naila Abdul Sattar and Fatma Hussain* Department of Biochemistry, Faculty of Sciences, University of Agriculture, Faisalabad, Pakistan Abstract: Present research was undertaken with the aim to assess the association of VDR gene FokI polymorphism with T2DM in local population. The study comprised of 100 T2DM patients (DG) and 50 normal individuals (CG) groups. Demographic parameters; age, gender, BMI and blood pressure were recorded. Fasting glucose (FG), HbA1c, vitamin D, liver function parameters, renal function parameters and lipid profile were measured. Significantly higher ( P<0.05) BMI (34.6±11.3 vs. 24.9±4.0kg/m 2 ), sBP (141±16 vs. 124±14mm Hg), dBP (81±8 vs. 76±7mm Hg), FG (145±5.54 mg/dL vs. 80±3.55mg/dL, HbA1c (7.43±0.69 % vs. 4.85±0.33%) were evident in DG as compared to CG. Prominent reduction (P<0.05) in vitamin D levels (13.69±1.85mg/dL) manifested in case subjects than that of control subjects (22.36±2.34mg/dL) as a negative correlation existed between HbA1c and vitamin D. Compared to control participants, substantially different FokI allele distribution was observed in T2DM patients. Current study s also showed no significant link between FokI genotype and the biochemical parameters. Present study endorsed the fact that diabetic patients have hypovitaminosis D and variable VDR polymorphisms. However, confirmational studies are indecisive and warrants further research. Keywords: Type 2 diabetes, hyperglycemia, hypovitaminosis, VDR gene, polymorphisms. INTRODUCTION Hypovitaminosis D is a health enigma influencing about one million worldwide. The risk factors include obesity, sedentary lifestyle, limited sunlight exposure and aging. Convincing evidences suggest that hypovitaminosis D is a probable cause for type 2 diabetes mellitus (T2DM) leading to increased mortality (Galesanu and Mocanu, 2015; Matyjaszek-Matuszek et al., 2015; Mauss et al., 2015; Riaz et al., 2016). Various aspects of glucose metabolism are positively affected by vitamin D. However, a contributory relation is yet not determined (Bajaj et al., 2014; Al-Shoumer and Al-Essa, 2015; Herrmann et al., 2015; Mathieu, 2015; Usluogullari et al., 2015). From serum 25(OH) vitamin D levels, cardiac complications in T2DM can be anticipated (Heidari et al., 2015). An opposite association between vitamin D and metabolism and insulin resistance is reported (Calvo-Romero et al., 2015; Miñambres et al., 2015; McDonnell et al., 2016). Jung et al. (2015) observed that vitamin D deficiency correlated with heart rate variability parameters in T2DM. However, Sheth et al. (2015) stated that hypovitaminosis D was prevalent in non-diabetic subjects. Vitamin D receptor (VDR) gene variants, specifically ApaI, TaqI, FokI and BsmI may be linked with diabetes, impaired physiology of insulin and beta cells of pancreas (Ogunkolade et al., 2002; Pittas et al., 2007). However, inferences of recent evidences are indecisive. VDR polymorphisms are associated with impaired insulin sensitivity (Filus et al., 2008) and insulin secretion (Speer et al., 2001; Ogunkolade et al., 2002). Contrary to these reports, some researchers denied the existence of any similar associations (Malecki et al., 2003; Bid et al., 2009; Dilmec et al., 2010; Vural and Maltas, 2012). This scenario demands analysis to explore the role of VDR polymorphisms in predisposing T2DM. Vitamin D gene variations are hazardous modifiers in diabetes progression. However, paucity of a case control study among Pakistani population is the main obstacle to draw solid conclusion. Present research was conducted to assess the association of VDR gene FokI polymorphism with T2DM biomarkers in local population. MATERIALS AND METHODS Research design The case-control study comprised of 100 T2DM patients attending private clinics in Faisalabad, Pakistan along with 50 normal individuals during the period January, 2015 to February, 2015 recruited through a convenient sampling technique. Informed written consent was procured and participants were divided into two groups; diabetic group (DG) and control group (CG). Ethical approval of research protocols were procured from Graduates Studies and Research Board (GSRB), University of Agriculture, Faisalabad, Pakistan and research work was conducted in collaboration with Department of Medical and Dentistry, Southmead Hospital, University of Bristol, Bristol, UK. Exclusion and inclusion criteria Inclusion criteria for diabetic case subjects was: HbA1c: ≥ *Corresponding author: e-mail: fatmauaf@yahoo.com