General Information:

Id: 2,578 (click here to show other Interactions for entry)
Diseases: Diabetes mellitus, type II - [OMIM]
Insulin resistance
Mammalia
review
Reference: Lang V et al.(2011) The molecular genetics of sulfonylurea receptors in the pathogenesis and treatment of insulin secretory disorders and type 2 diabetes Curr. Diab. Rep. 11: 543-551 [PMID: 21968738]

Interaction Information:

Comment In direct contrast to rare monogenic mutations that result in overt insulin secretory disorders, common genetic variants in the KCNJ11 and ABCC8 genes may not manifest a clinical phenotype but are associated with an increased risk for diabetes. For example, the K23 single nucleotide variant (E23K, rs5219) within the KCNJ11 gene is associated with impaired glucose-stimulated insulin secretion in approximately 20% of the Caucasian T2D population. Moreover, the K23 variant has also been shown to be associated with T2D in almost every ethnic group examined. The ABCC8 A1369 variant (rs757110) is tightly associated with the K23 variant, forming a T2D risk haplotype (K/A), such that greater than 95% of people with two copies of K23 also possess two copies of A1369. It should also be noted that the ABCC8 and KCNJ11 genes are located adjacent to each other on the same chromosomal position (11p15.1), further supporting a tight inheritable risk haplotype that may alter the properties of the K(ATP) channel complex.
Formal Description
Interaction-ID: 24312

increases_activity of

the risk allele is G