KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus.
KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus.
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DOI：
10.1155/2015/908152
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发表时间：
2015
影响因子：
4.3
通讯作者：
Haerian BS
中科院分区：
文献类型：
--
作者：
Haghvirdizadeh P;Mohamed Z;Abdullah NA;Haghvirdizadeh P;Haerian MS;Haerian BS
糖尿病（Diabetes mellitus，DM）是一个世界性的健康问题，其患病率在上个世纪迅速上升。它是由胰岛素分泌或胰岛素作用或两者的缺陷引起的，导致高血糖症。在各种类型的糖尿病中，2型糖尿病最常见。胰岛素分泌途径涉及多个基因及其相互作用。胰岛素分泌通过胰腺β细胞中的ATP敏感性钾（KATP）通道介导。该通道是一种异聚体蛋白，由四个内向整流钾离子通道（Kir6.2）四聚体组成，形成KATP通道的孔，以及孔周围的磺酰脲受体1亚基。Kir6.2由钾离子通道基因的成员K_（CN）J亚家族成员11（KCNJ11）基因编码。许多研究报道了KCNJ11基因单核苷酸多态性及其相互作用与糖尿病易感性的关系。本文综述了目前的证据，共同KCNJ11遗传变异的DM的发展的贡献。未来的研究应集中于了解这些风险变异在糖尿病发展中所起的确切作用。
Diabetes mellitus (DM) is a major worldwide health problem and its prevalence has been rapidly increasing in the last century. It is caused by defects in insulin secretion or insulin action or both, leading to hyperglycemia. Of the various types of DM, type 2 occurs most frequently. Multiple genes and their interactions are involved in the insulin secretion pathway. Insulin secretion is mediated through the ATP-sensitive potassium (KATP) channel in pancreatic beta cells. This channel is a heteromeric protein, composed of four inward-rectifier potassium ion channel (Kir6.2) tetramers, which form the pore of the KATP channel, as well as sulfonylurea receptor 1 subunits surrounding the pore. Kir6.2 is encoded by the potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) gene, a member of the potassium channel genes. Numerous studies have reported the involvement of single nucleotide polymorphisms of the KCNJ11 gene and their interactions in the susceptibility to DM. This review discusses the current evidence for the contribution of common KCNJ11 genetic variants to the development of DM. Future studies should concentrate on understanding the exact role played by these risk variants in the development of DM.