Genomics Inform.
2015 Dec;13(4):126-131. 10.5808/GI.2015.13.4.126.
Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans
- Affiliations
-
- 1Department of Internal Medicine, Seoul National University Hospital, Seoul 03080, Korea. kspark@snu.ac.kr
- 2Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Korea.
- 3Asan Institute for Life Sciences, Asan Medical Center, Seoul 05505, Korea.
- 4Department of Convergence Medicine, University of Ulsan College of Medicine, Seoul 05505, Korea.
- 5Department of Internal Medicine, Seoul National University College of Medicine, Seoul 03080, Korea.
- 6Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, Seoul National University, Seoul 03080, Korea.
- KMID: 2166527
- DOI: http://doi.org/10.5808/GI.2015.13.4.126
Abstract
- Fulminant type 1 diabetes (T1DM) is a distinct subtype of T1DM that is characterized by rapid onset hyperglycemia, ketoacidosis, absolute insulin deficiency, and near normal levels of glycated hemoglobin at initial presentation. Although it has been reported that class II human leukocyte antigen (HLA) genotype is associated with fulminant T1DM, the genetic predisposition is not fully understood. In this study we investigated the HLA genotype and haplotype in 11 Korean cases of fulminant T1DM using imputation of whole exome sequencing data and compared its frequencies with 413 participants of the Korean Reference Panel. The HLA-DRB1*04:05-HLA-DQB1*04:01 haplotype was significantly associated with increased risk of fulminant T1DM in Fisher's exact test (odds ratio [OR], 4.11; 95% confidence interval [CI], 1.56 to 10.86; p = 0.009). A histidine residue at HLA-DRbeta1 position 13 was marginally associated with increased risk of fulminant T1DM (OR, 2.45; 95% CI ,1.01 to 5.94; p = 0.054). Although we had limited statistical power, we provide evidence that HLA haplotype and amino acid change can be a genetic risk factor of fulminant T1DM in Koreans. Further large-scale research is required to confirm these findings.
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