Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans.
- Author:
Soo Heon KWAK
1
;
Yoon Ji KIM
;
Jeesoo CHAE
;
Cue Hyunkyu LEE
;
Buhm HAN
;
Jong Il KIM
;
Hye Seung JUNG
;
Young Min CHO
;
Kyong Soo PARK
Author Information
- Publication Type:Original Article
- Keywords: autoimmunity; fulminant type 1 diabetes; haplotypes; HLA antigens; imputation; whole exome sequencing
- MeSH: Autoimmunity; Exome; Genetic Predisposition to Disease; Genotype*; Haplotypes; Hemoglobin A, Glycosylated; Histidine; HLA Antigens; Humans; Hyperglycemia; Insulin; Ketosis; Leukocytes; Risk Factors
- From:Genomics & Informatics 2015;13(4):126-131
- CountryRepublic of Korea
- Language:English
- 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.
