Rizvi Saliha, Raza Syed Tasleem, Rahman Qamar, Mahdi Farzana
Department of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, 226003, India.
Amity University, Lucknow Campus, Lucknow, Uttar Pradesh, India.
3 Biotech. 2016 Dec;6(2):255. doi: 10.1007/s13205-016-0572-x. Epub 2016 Dec 2.
Type 2 diabetes (T2DM) is a polygenic metabolic disorder characterized by hyperglycemia occurring as a result of impaired insulin secretion or insulin resistance. Various environmental and genetic factors interact and increase the risk of T2DM and its complications. Among the various genetic factors associated with T2DM, single nucleotide polymorphism in different candidate genes have been studied intensively and the resulting genetic variants have been found to have either positive or negative association with T2DM thereby increasing or decreasing the risk of T2DM, respectively. In this review, we will focus on Guanine nucleotide-binding protein subunit beta 3 (GNB3), Norepinephrine Transporter (NET), Potassium Channel gene (KCNJ11), Transcription Factor 7-Like 2 (TCF7L2) and Glucocorticoid receptor (GRL) genes and their association with T2DM studied in different ethnic groups. The products of these genes are involved in the biochemical pathway leading to T2DM. Polymorphisms in these genes have been intensively studied in individuals of different ethnic origins. Results show that genetic variants of TCF7L2 and KCNJ11 genes have potential to emerge as a risk biomarker for T2DM whereas results of GNB3, GRL and NET genes have been controversial when studied in individuals of different ethnicities. We have tried to summarize the results generated globally in context to the selected genes which could possibly help researchers working in this field and would eventually help in understanding the mechanistic pathways of T2DM leading early diagnosis and prevention.
2型糖尿病（T2DM）是一种多基因代谢紊乱疾病，其特征是由于胰岛素分泌受损或胰岛素抵抗导致血糖升高。各种环境和遗传因素相互作用，增加了T2DM及其并发症的风险。在与T2DM相关的各种遗传因素中，不同候选基因中的单核苷酸多态性已得到深入研究，发现所产生的基因变异与T2DM存在正相关或负相关，从而分别增加或降低T2DM的风险。在本综述中，我们将重点关注鸟嘌呤核苷酸结合蛋白β3亚基（GNB3）、去甲肾上腺素转运体（NET）、钾通道基因（KCNJ11）、转录因子7样2（TCF7L2）和糖皮质激素受体（GRL）基因，以及它们在不同种族群体中与T2DM的关联。这些基因的产物参与了导致T2DM的生化途径。这些基因中的多态性已在不同种族背景的个体中进行了深入研究。结果表明，TCF7L2和KCNJ11基因的遗传变异有可能成为T2DM的风险生物标志物，而在不同种族个体中研究GNB3、GRL和NET基因的结果则存在争议。我们试图总结全球范围内针对所选基因产生的结果，这可能有助于该领域的研究人员，并最终有助于理解T2DM的机制途径，从而实现早期诊断和预防。
