Gonen, Mustafa SaitArikoglu, HilalKaya, Dudu ErkocOzdemir, HulyaIpekci, Suleyman HilmiArslan, AhmetKayis, Seyit Ali2020-03-262020-03-2620120188-44091873-5487https://dx.doi.org/10.1016/j.arcmed.2012.06.001https://hdl.handle.net/20.500.12395/27993Background and Aims. ATP-sensitive potassium (K-ATP) channels of pancreatic beta-cells play a key role in glucose-stimulated insulin secretion mechanism. The Kir6.2 protein, forming the K-ATP channel pore inwardly, and the SUR1 protein that surrounds it forming the outside part of the channel were encoded by ABCC8 and KCNJ11 genes, respectively. Recent studies reported that the single nucleotide polymorphisms (SNPs) established in these genes are associated with defects in insulin secretion and type 2 diabetes mellitus (T2DM). We aimed to investigate the allele profiles and the risk alleles of the ABCC8 and KCNJ11 genes and to highlight the associations with the disease in patients in Konya region of Turkey where T2DM is common. Methods. In this study, 169 patients with T2DM and 119 healthy controls were included. A total of 29 SNPs in ABCC8 and KCNJ11 genes were screened by PCR-SSCP technique and sequenced. Biochemical parameters and genotype-phenotype relationships were analyzed using variance analysis. Results. R1273R silent substitution in exon 31 and 16/-3t -> c substitution in noncoding region of exon 16 of ABCC8 gene showed a significant association (OR 4.8 [95% CI 2.41-9.77], p < 0.001 and OR 3.5 [95% CI 1.64-7.40], p < 0.001 under dominant and recessive models, respectively). We detected a significant association between E/K heterozygote genotype and reduced plasma insulin level in patients with T2DM (p < 0.05). Conclusions. ABCC8 exons 16 and 31 variants increase susceptibility to T2DM and KCNJ11 E23K decreases insulin secretion in a Turkish population (C) 2012 MISS. Published by Elsevier Inc.en10.1016/j.arcmed.2012.06.001info:eu-repo/semantics/closedAccessType 2DMK-ATP channelSUR1Kir6.2Single nucleotide polymorphismsArticle43431732322704848Q1WOS:000307603500010Q3