title: KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus.
abstract: 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.
authors.affiliation: Pharmacogenomics Lab, Department of Pharmacology, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.
authors.forename: Polin
authors.initials: P
authors.lastname: Haghvirdizadeh
authors.affiliation: Pharmacogenomics Lab, Department of Pharmacology, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.
authors.forename: Zahurin
authors.initials: Z
authors.lastname: Mohamed
authors.affiliation: Department of Pharmacology, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.
authors.forename: Nor Azizan
authors.initials: NA
authors.lastname: Abdullah
authors.affiliation: Department of Biology, Faculty of Science, Azad University, Tehran, Iran.
authors.forename: Pantea
authors.initials: P
authors.lastname: Haghvirdizadeh
authors.affiliation: Shahid Beheshti University of Medical Sciences, P.O. Box 19395-4763, Tehran, Iran ; Food and Drug Control Reference Labs Center (FDCRLC), Ministry of Health and Medical Education, Tehran 131456-8784, Iran.
authors.forename: Monir Sadat
authors.initials: MS
authors.lastname: Haerian
authors.affiliation: Pharmacogenomics Lab, Department of Pharmacology, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.
authors.forename: Batoul Sadat
authors.initials: BS
authors.lastname: Haerian
mesh_terms: D002462:Cell Membrane / Q000378:metabolism; D003920:Diabetes Mellitus / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D007328:Insulin / Q000378:metabolism; D000078790:Insulin Secretion; D050417:Insulin-Secreting Cells / Q000378:metabolism; D009154:Mutation; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D012307:Risk Factors; D064233:Sulfonylurea Receptors / Q000378:metabolism; D000099161:Kcnj11 Channel
chemical_list: D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel; C577507:ABCC8 protein, human