Effects of Single Nucleotide Polymorphisms in K-ATP Channel Genes on Type 2 Diabetes in a Turkish Population

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dc.contributor.authorGonen, Mustafa Sait
dc.contributor.authorArikoglu, Hilal
dc.contributor.authorKaya, Dudu Erkoc
dc.contributor.authorOzdemir, Hulya
dc.contributor.authorIpekci, Suleyman Hilmi
dc.contributor.authorArslan, Ahmet
dc.contributor.authorKayis, Seyit Ali
dc.date.accessioned2020-03-26T18:25:20Z
dc.date.available2020-03-26T18:25:20Z
dc.date.issued2012
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractBackground 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.en_US
dc.description.sponsorshipScientific and Technological Research Council of TurkeyTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [107S453]en_US
dc.description.sponsorshipThis study was supported by the Scientific and Technological Research Council of Turkey (107S453).en_US
dc.identifier.doi10.1016/j.arcmed.2012.06.001en_US
dc.identifier.endpage323en_US
dc.identifier.issn0188-4409en_US
dc.identifier.issn1873-5487en_US
dc.identifier.issue4en_US
dc.identifier.pmid22704848en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage317en_US
dc.identifier.urihttps://dx.doi.org/10.1016/j.arcmed.2012.06.001
dc.identifier.urihttps://hdl.handle.net/20.500.12395/27993
dc.identifier.volume43en_US
dc.identifier.wosWOS:000307603500010en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherELSEVIER SCIENCE INCen_US
dc.relation.ispartofARCHIVES OF MEDICAL RESEARCHen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectType 2DMen_US
dc.subjectK-ATP channelen_US
dc.subjectSUR1en_US
dc.subjectKir6.2en_US
dc.subjectSingle nucleotide polymorphismsen_US
dc.titleEffects of Single Nucleotide Polymorphisms in K-ATP Channel Genes on Type 2 Diabetes in a Turkish Populationen_US
dc.typeArticleen_US

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