PMID- 26865843
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20160211
LR  - 20200930
IS  - 1598-866X (Print)
IS  - 2234-0742 (Electronic)
IS  - 1598-866X (Linking)
VI  - 13
IP  - 4
DP  - 2015 Dec
TI  - Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans.
PG  - 126-31
LID - 10.5808/GI.2015.13.4.126 [doi]
AB  - 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.
FAU - Kwak, Soo Heon
AU  - Kwak SH
AD  - Department of Internal Medicine, Seoul National University Hospital, Seoul 03080, 
      Korea.
FAU - Kim, Yoon Ji
AU  - Kim YJ
AD  - Department of Internal Medicine, Seoul National University Hospital, Seoul 03080, 
      Korea.
FAU - Chae, Jeesoo
AU  - Chae J
AD  - Department of Biomedical Sciences, Seoul National University College of Medicine, 
      Seoul 03080, Korea.
FAU - Lee, Cue Hyunkyu
AU  - Lee CH
AD  - Asan Institute for Life Sciences, Asan Medical Center, Seoul 05505, Korea.
FAU - Han, Buhm
AU  - Han B
AD  - Asan Institute for Life Sciences, Asan Medical Center, Seoul 05505, Korea.; 
      Department of Convergence Medicine, University of Ulsan College of Medicine, 
      Seoul 05505, Korea.
FAU - Kim, Jong-Il
AU  - Kim JI
AD  - Department of Biomedical Sciences, Seoul National University College of Medicine, 
      Seoul 03080, Korea.
FAU - Jung, Hye Seung
AU  - Jung HS
AD  - Department of Internal Medicine, Seoul National University Hospital, Seoul 03080, 
      Korea.
FAU - Cho, Young Min
AU  - Cho YM
AD  - Department of Internal Medicine, Seoul National University Hospital, Seoul 03080, 
      Korea.; Department of Internal Medicine, Seoul National University College of 
      Medicine, Seoul 03080, Korea.
FAU - Park, Kyong Soo
AU  - Park KS
AD  - Department of Internal Medicine, Seoul National University Hospital, Seoul 03080, 
      Korea.; Department of Internal Medicine, Seoul National University College of 
      Medicine, Seoul 03080, Korea.; Department of Molecular Medicine and 
      Biopharmaceutical Sciences, Graduate School of Convergence Science and 
      Technology, Seoul National University, Seoul 03080, Korea.
LA  - eng
PT  - Journal Article
DEP - 20151231
PL  - Korea (South)
TA  - Genomics Inform
JT  - Genomics & informatics
JID - 101223836
PMC - PMC4742322
OTO - NOTNLM
OT  - HLA antigens
OT  - autoimmunity
OT  - fulminant type 1 diabetes
OT  - haplotypes
OT  - imputation
OT  - whole exome sequencing
EDAT- 2016/02/13 06:00
MHDA- 2016/02/13 06:01
PMCR- 2015/12/01
CRDT- 2016/02/12 06:00
PHST- 2015/11/30 00:00 [received]
PHST- 2015/12/17 00:00 [revised]
PHST- 2015/12/17 00:00 [accepted]
PHST- 2016/02/12 06:00 [entrez]
PHST- 2016/02/13 06:00 [pubmed]
PHST- 2016/02/13 06:01 [medline]
PHST- 2015/12/01 00:00 [pmc-release]
AID - 10.5808/GI.2015.13.4.126 [doi]
PST - ppublish
SO  - Genomics Inform. 2015 Dec;13(4):126-31. doi: 10.5808/GI.2015.13.4.126. Epub 2015 
      Dec 31.