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Diabetes Metab J : Diabetes & Metabolism Journal



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2 "Genetic predisposition to disease"
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Exome Chip Analysis of 14,026 Koreans Reveals Known and Newly Discovered Genetic Loci Associated with Type 2 Diabetes Mellitus
Seong Beom Cho, Jin Hwa Jang, Myung Guen Chung, Sang Cheol Kim
Diabetes Metab J. 2021;45(2):231-240.   Published online July 28, 2020
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  • 6 Crossref
Graphical AbstractGraphical Abstract AbstractAbstract PDFSupplementary MaterialPubReader   ePub   

Most loci associated with type 2 diabetes mellitus (T2DM) discovered to date are within noncoding regions of unknown functional significance. By contrast, exonic regions have advantages for biological interpretation.


We analyzed the association of exome array data from 14,026 Koreans to identify susceptible exonic loci for T2DM. We used genotype information of 50,543 variants using the Illumina exome array platform.


In total, 7 loci were significant with a Bonferroni adjusted P=1.03×10−6. rs2233580 in paired box gene 4 (PAX4) showed the highest odds ratio of 1.48 (P=1.60×10−10). rs11960799 in membrane associated ring-CH-type finger 3 (MARCH3) and rs75680863 in transcobalamin 2 (TCN2) were newly identified loci. When we built a model to predict the incidence of diabetes with the 7 loci and clinical variables, area under the curve (AUC) of the model improved significantly (AUC=0.72, P<0.05), but marginally in its magnitude, compared with the model using clinical variables (AUC=0.71, P<0.05). When we divided the entire population into three groups—normal body mass index (BMI; <25 kg/m2), overweight (25≤ BMI <30 kg/m2), and obese (BMI ≥30 kg/m2) individuals—the predictive performance of the 7 loci was greatest in the group of obese individuals, where the net reclassification improvement was highly significant (0.51; P=8.00×10−5).


We found exonic loci having a susceptibility for T2DM. We found that such genetic information is advantageous for predicting T2DM in a subgroup of obese individuals.


Citations to this article as recorded by  
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  • Sex Differences in the Effects of CDKAL1 Variants on Glycemic Control in Diabetic Patients: Findings from the Korean Genome and Epidemiology Study
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Double Diabetes.
Sang Youl Rhee, Young Seol Kim
Korean Diabetes J. 2009;33(1):1-8.   Published online February 1, 2009
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AbstractAbstract PDF
Generally, most cases of diabetes mellitus (DM) are classified as either type 1 DM or type 2 DM based on their pathophysiolgic features. However, it is not always possible to classify this disease clearly according to current diagnostic criteria. Recently, the existence of non-typical diabetes has been found in patients with simultaneous features of both type 1 and type 2 DM. In these patients, obvious evidence of insulin resistance, positivity of islet autoantibody, and progressive beta cell loss are observed concurrently. Moreover, this non-typical diabetes that usually occurs among children and adolescents has been defined as 'double diabetes', and its worldwide incidence has been on the increase as of late. Thus, there has been heightened interest among researchers about this ambiguous condition.

Diabetes Metab J : Diabetes & Metabolism Journal