Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans
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 (HL...
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BioMed Central
2015-12-01
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| Series: | Genomics & Informatics |
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| Online Access: | http://genominfo.org/upload/pdf/gni-13-126.pdf |
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| author | Soo Heon Kwak Yoon Ji Kim Jeesoo Chae Cue Hyunkyu Lee Buhm Han Jong-Il Kim Hye Seung Jung Young Min Cho Kyong Soo Park |
| author_facet | Soo Heon Kwak Yoon Ji Kim Jeesoo Chae Cue Hyunkyu Lee Buhm Han Jong-Il Kim Hye Seung Jung Young Min Cho Kyong Soo Park |
| author_sort | Soo Heon Kwak |
| collection | DOAJ |
| description | 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-DRβ1 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. |
| format | Article |
| id | doaj-art-49ee3e8756944afc92757df356600c3e |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2015-12-01 |
| publisher | BioMed Central |
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| series | Genomics & Informatics |
| spelling | doaj-art-49ee3e8756944afc92757df356600c3e2025-02-02T17:22:34ZengBioMed CentralGenomics & Informatics1598-866X2234-07422015-12-0113412613110.5808/GI.2015.13.4.126137Association of HLA Genotype and Fulminant Type 1 Diabetes in KoreansSoo Heon Kwak0Yoon Ji Kim1Jeesoo Chae2Cue Hyunkyu Lee3Buhm Han4Jong-Il Kim5Hye Seung Jung6Young Min Cho7Kyong Soo Park8Department of Internal Medicine, Seoul National University Hospital, Seoul 03080, Korea.Department of Internal Medicine, Seoul National University Hospital, Seoul 03080, Korea.Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Korea.Asan Institute for Life Sciences, Asan Medical Center, Seoul 05505, Korea.Asan Institute for Life Sciences, Asan Medical Center, Seoul 05505, Korea.Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Korea.Department of Internal Medicine, Seoul National University Hospital, Seoul 03080, Korea.Department of Internal Medicine, Seoul National University Hospital, Seoul 03080, Korea.Department of Internal Medicine, Seoul National University Hospital, Seoul 03080, Korea.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-DRβ1 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.http://genominfo.org/upload/pdf/gni-13-126.pdfautoimmunityfulminant type 1 diabeteshaplotypesHLA antigensimputationwhole exome sequencing |
| spellingShingle | Soo Heon Kwak Yoon Ji Kim Jeesoo Chae Cue Hyunkyu Lee Buhm Han Jong-Il Kim Hye Seung Jung Young Min Cho Kyong Soo Park Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans Genomics & Informatics autoimmunity fulminant type 1 diabetes haplotypes HLA antigens imputation whole exome sequencing |
| title | Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans |
| title_full | Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans |
| title_fullStr | Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans |
| title_full_unstemmed | Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans |
| title_short | Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans |
| title_sort | association of hla genotype and fulminant type 1 diabetes in koreans |
| topic | autoimmunity fulminant type 1 diabetes haplotypes HLA antigens imputation whole exome sequencing |
| url | http://genominfo.org/upload/pdf/gni-13-126.pdf |
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