ABCMdb

PMID: 18796522

Palmer ND, Langefeld CD, Bryer-Ash M, Rotter JI, Taylor KD, Bowden DW
Association of the Kir6.2 E23K variant with reduced acute insulin response in African-Americans.
J Clin Endocrinol Metab. 2008 Dec;93(12):4979-83. Epub 2008 Sep 16., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC8 p.Ala1369Ser Objective: The objective of this study was to evaluate two nonsynonymous variants in Kir6.2 (E23K) and SUR1 (A1369S) and determine their role in vivo. Login to comment 9 ABCC8 p.Ala1369Ser Conclusions: We conclude that variation marked by the Kir6.2 E23K and SUR1 A1369S mutations is associated with alterations in glucose-stimulated insulin secretion but not with other measures of glucose homeostasis in an African-American population. Login to comment 22 ABCC8 p.Ala1369Ser Specifically, the Kir6.2 E23K and SUR1 A1369S variants, which are highly correlated, have been reproducibly implicated in type 2 diabetes (T2D) susceptibility (9, 10). Login to comment 25 ABCC8 p.Ala1369Ser Thus, although the association of the E23K variant with T2D is widely accepted, the contribution of the SUR1 A1369S has not been delineated, and results of studies in human populations and model systems have not provided a consistent mechanism for T2D susceptibility. Login to comment 26 ABCC8 p.Ala1369Ser The purpose of this study was to evaluate the association of the Kir6.2 E23K and SUR1 A1369S variants with quantitative measures of glucose homeostasis in carefully phenotyped African-American and Hispanic-American subjects from the Insulin Resistance Atherosclerosis Family Study (IRAS-FS). Login to comment 64 ABCC8 p.Ala1369Ser Discussion The goal of this study was to assess the impact of Kir6.2 E23K and SUR1 A1369S variants on quantitative measures of glucose homeostasis to determine their probable role in vivo. In African-Americans we observed significant association of the Kir6.2 E23K variant with AIR. Login to comment 90 ABCC8 p.Ala1369Ser Evaluation of the common nonsynonymous mutation (A1369S, rs757110) resulted in the same associations as observed with the E23K mutation due to the strong allelic association. Login to comment