E23K polymorphism of the KCNJ11 gene in Korean children with type 1 diabetes
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E23K polymorphism of the KCNJ11 gene in Korean children with type 1 diabetes Jung Min Ko, Seung Yang, Se Young Kim, Hyo Sung Lee, Jin Soon Hwang, Il Tae Hwang Seoul, Korea Background: This study was undertaken to evaluate the association of the E23K polymorphism of KCNJ11 and type 1 diabetes in a Korean population.
Results: The genotype frequencies of the KCNJ11 E23 polymorphic locus in the patient group were 30.0% for EE, 44.3% for EK, and 25.7% for KK. We detected no differences in genotype frequencies between the patient and control groups. Additionally, in the patient group, no difference was detected in the clinical phenotypes among the three genotypes. Conclusion: Although a rather small sample size constituted a limitation of this study, the association of the E23K polymorphism with type 1 diabetes was not statistically significant in the Korean population evaluated. World J Pediatr 2012;8(2):169-172 Key words: KCNJ11; type 1 diabetes; polymorphism; Kir6.2
Author Affiliations: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea (Ko JM); Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea (Yang S, Hwang IT); Department of Pediatrics, Bundang Jeseang General Hospital, Seongnam, Korea (Kim SY); Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea (Lee HS, Hwang JS) Corresponding Author: Il Tae Hwang, MD, PhD, Department of Pediatrics, Gangdong Sacred Heart Hospital, Gil-dong, Gangdong-gu, Seoul 134-701, Korea (Tel: 82-2-2224-2114; Email: ithwang83@hallym. or.kr) doi: 10.1007/s12519-012-0355-3 ©Children's Hospital, Zhejiang University School of Medicine, China and Springer-Verlag Berlin Heidelberg 2012. All rights reserved.
World J Pediatr, Vol 8 No 2 . May 15, 2012 . www.wjpch.com
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utoimmune-mediated selective destruction of pancreatic β-cells constitutes the principal pathophysiology in type 1 diabetes mellitus (T1DM). [1] On the other hand, type 2 diabetes mellitus (T2DM) is generally regarded as a polygenic disorder, [2] and studies have shown some genetic variants with an increased risk of T2DM.[3,4] The most convincing candidate variants are p.Pro12Ala (P12A) of the PPAR-γ2 gene, p.Gly972Arg (G972R) of the IRS-1 gene, p.Ala98Val (A98V) of the HNF-1α gene, and p.Glu23Lys (E23K) of the KCNJ11 gene. Among them, the E23K polymorphism in KCNJ11 has been shown, in in vitro studies, to reduce the ATP sensitivity of the ATP-sensitive potassium channel and to affect insulin secretion, reducing the ability of the channel complex to close and thereby inducing overactivity of the channel.[5] The impact of this variant on T2DM has been well established, as several studies have reported an association between the K23 allele and T2DM, with an odds ratio between 1.12 and 1.49 in various populations including Koreans.[6-8] There are some indications of common etiological factors in T1DM and T2DM. The latent autoimmune diabetes of adults initially presents in a fashion similar to that of T2DM; however, it also involves a progressive β-c
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