Zano Sheh, Rubab Zil E, Baig Saeeda, Shahid Moazzam A, Ahmad Farah, Iqbal Faizan
Biochemistry, Ziauddin University, Karachi, PAK.
Community Health Sciences, Ziauddin University, Karachi, PAK.
Cureus. 2020 Dec 6;12(12):e11930. doi: 10.7759/cureus.11930.
Background Type 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. Methods DNA 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. Results The 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. Conclusion Genotype 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.
2型糖尿病（T2DM）是一种慢性多因素疾病，在巴基斯坦呈快速增长态势。此前已有许多基因包括锌指蛋白1（JAZF1）在文献中被描述，但JAZF1在该人群亚组中的作用尚待明确。本研究旨在确定巴基斯坦人群中有2型糖尿病家族史者的JAZF1多态性及患2型糖尿病的风险。方法：采用聚合酶链反应（PCR）和限制性片段长度多态性方法，对75名有2型糖尿病家族史的非糖尿病巴基斯坦参与者和75名对照者的DNA样本进行评估。结果：JAZF1（rs864745）的等位基因AA和AG以及GG基因型在病例组和对照组之间的频率分布差异显著（p<0.05）。GG基因型与有2型糖尿病家族史的病例独立且显著相关[比值比（OR）2.6（95%置信区间（Cl）1.3 - 5.1）；p = 0.005]，而AA等位基因与无2型糖尿病家族史的对照组显著相关[比值比（OR）0.39（95%置信区间（Cl）0.2 - 0.7）；p = 0.0059]，等位基因AG无显著意义，在对照组和病例组中分布均匀，p值 = 1.000。结论：在巴基斯坦人群亚组中，发现JAZF1变体的GG基因型与患2型糖尿病的风险显著相关。
