RGD Reference Report - Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes. - Rat Genome Database

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Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes.

Authors: Riedel, MJ  Steckley, DC  Light, PE 
Citation: Riedel MJ, etal., Hum Genet. 2005 Feb;116(3):133-45. Epub 2004 Nov 23.
RGD ID: 2313610
Pubmed: PMID:15565284   (View Abstract at PubMed)
DOI: DOI:10.1007/s00439-004-1216-5   (Journal Full-text)

The ATP-sensitive potassium (KATP) channel couples membrane excitability to cellular metabolism and is a critical mediator in the process of glucose-stimulated insulin secretion. Increasing numbers of KATP channel polymorphisms are being described and linked to altered insulin secretion indicating that genes encoding this ion channel could be susceptibility markers for type-2 diabetes. Genetic variation of KATP channels may result in altered beta-cell electrical activity, glucose homeostasis, and increased susceptibility to type-2 diabetes. Of particular interest is the Kir6.2 E23K polymorphism, which is linked to increased susceptibility to type-2 diabetes in Caucasian populations and may also be associated with weight gain and obesity, both of which are major diabetes risk factors. This association highlights the potential contribution of both genetic and environmental factors to the development and progression of type-2 diabetes. In addition, the common occurrence of the E23K polymorphism in Caucasian populations may have conferred an evolutionary advantage to our ancestors. This review will summarize the current status of the association of KATP channel polymorphisms with type-2 diabetes, focusing on the possible mechanisms by which these polymorphisms alter glucose homeostasis and offering insights into possible evolutionary pressures that may have contributed to the high prevalence of KATP channel polymorphisms in the Caucasian population.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
type 2 diabetes mellitus  TAS 2313610polymorphisms in the gene are linked to altered insulin secretion and E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian populationRGD 
type 2 diabetes mellitus  ISOKCNJ11 (Homo sapiens)2313610; 2313610polymorphisms in the human gene are linked to altered insulin secretion and E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian populationRGD 

Molecular Pathway Annotations    Click to see Annotation Detail View

RGD Manual Annotations

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
altered insulin secretion pathway   TAS 2313610polymorphisms in the gene are linked to altered insulin secretion and E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian populationRGD 
altered insulin secretion pathway   ISOKCNJ11 (Homo sapiens)2313610; 2313610polymorphisms in the human gene are linked to altered insulin secretion and E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian populationRGD 
type 2 diabetes mellitus pathway   TAS 2313610polymorphisms in the gene are linked to altered insulin secretion and E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian populationRGD 
type 2 diabetes mellitus pathway   ISOKCNJ11 (Homo sapiens)2313610; 2313610polymorphisms in the human gene are linked to altered insulin secretion and E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian populationRGD 
Objects Annotated

Genes (Rattus norvegicus)
Kcnj11  (potassium inwardly-rectifying channel, subfamily J, member 11)

Genes (Mus musculus)
Kcnj11  (potassium inwardly rectifying channel, subfamily J, member 11)

Genes (Homo sapiens)
KCNJ11  (potassium inwardly rectifying channel subfamily J member 11)


Additional Information