Abstract
BackgroundType 2 diabetes mellitus (T2DM) is a chronic multifactorial condition and quickly growing disease in Pakistan. Many genes together with Zinc finger protein 1 (JAZF1) have already been described earlier in the literature but the role of JAZF1 in this subset of the population is yet to define. This study was aimed at identifying JAZF1 polymorphism and the risk of developing T2DM in persons with a parental history of T2DM in the Pakistani population.MethodsDNA samples from 75 non-diabetic Pakistani participants with a family history of T2DM and 75 controls were evaluated by using a polymerase chain reaction (PCR) and the restriction fragment length polymorphism method.ResultsThe alleles AA and AG and the GG genotype of JAZF1 (rs864745) varied considerably in frequency distribution between cases and control (p<0.05). The GG was independently and significantly associated with cases who had a family history of T2DM [odds ratio (OR) 2.6 (95% confidence interval (Cl) 1.3-5.1); p=0.005] while the AA allele was significantly associated with controls without a family history of T2DM [odds ratio (OR) 0.39 (95% confidence interval (Cl) 0.2-0.7); p=0.0059] and the allele AG has no significance and was equally distributed among control and cases with p-value=1.000.ConclusionGenotype GG of the JAZF1 variant was found significantly associated with the risk of developing type 2 diabetes mellitus in the Pakistani subset of the population.
Highlights
Type 2 diabetes mellitus (T2DM) is a systemic disease that is indicated by increasing blood sugar levels and is secondary to defect either in insulin production or insulin resistance [1]
The GG was independently and significantly associated with cases who had a family history of T2DM [odds ratio (OR) 2.6 (95% confidence interval (Cl) 1.3-5.1); p=0.005] while the AA allele was significantly associated with controls without a family history of T2DM [odds ratio (OR) 0.39 (95% confidence interval (Cl) 0.2-0.7); p=0.0059] and the allele AG has no significance and was distributed among control and cases with p-value=1.000
Previous studies show some disagreement about the results reported by the International Diabetes Federation (IDF), and they found that the prevalence of T2DM is found to be 7.2% to 19.2% in different regions of Pakistan [11]
Summary
Type 2 diabetes mellitus (T2DM) is a systemic disease that is indicated by increasing blood sugar levels and is secondary to defect either in insulin production or insulin resistance [1]. Type 2 diabetes mellitus is more prevalent in middle and low-income countries like Pakistan [5,6,7]. Pakistan is the sixth most densely populated country in the world and the prevalence of type 2 diabetes mellitus is still underestimated [9]. The International Diabetes Federation (IDF) reported that the overall prevalence of T2DM in Pakistan was 6.8 % in patients aged between 20 and 79 years [10]. Previous studies show some disagreement about the results reported by the IDF, and they found that the prevalence of T2DM is found to be 7.2% to 19.2% in different regions of Pakistan [11]. Type 2 diabetes mellitus (T2DM) is a chronic multifactorial condition and quickly growing disease in Pakistan. This study was aimed at identifying JAZF1 polymorphism and the risk of developing T2DM in persons with a parental history of T2DM in the Pakistani population
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