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

Background: This study was undertaken to evaluate the association of the E23K polymorphism of KCNJ11 and type 1 diabetes in a Korean population.

Methods: Clinical variables from 70 Korean children with type 1 diabetes were analyzed. Patients' DNA was screened for the E23 locus in the KCNJ11 gene. Each genotype frequency and clinical characteristics according to the genotypes were compared between the patient and control groups.

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.

Key words: KCNJ11; type 1 diabetes; polymorphism; Kir6.2

                   World J Pediatr 2012;8(2):169-172