PMID- 35422513
OWN - NLM
STAT- MEDLINE
DCOM- 20220628
LR  - 20220701
IS  - 1476-5470 (Electronic)
IS  - 1466-4879 (Linking)
VI  - 23
IP  - 3-4
DP  - 2022 Jun
TI  - Protective association of HLA-DPB1*04:01:01 with acute encephalopathy with 
      biphasic seizures and late reduced diffusion identified by HLA imputation.
PG  - 123-128
LID - 10.1038/s41435-022-00170-y [doi]
AB  - Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is 
      a severe syndrome of acute encephalopathy that affects infants and young 
      children. AESD is a polygenic disorder preceded by common viral infections with 
      high fever. We conducted an association study of human leukocyte antigen (HLA) 
      regions with AESD using HLA imputation. SNP genotyping was performed on 254 
      Japanese patients with AESD and 799 healthy controls. We conducted 3-field HLA 
      imputation for 14 HLA genes based on Japanese-specific references using data from 
      our previous genome-wide association study. After quality control, 208 patients 
      and 737 controls were included in the analysis of HLA alleles. We then compared 
      the carrier frequencies of HLA alleles and haplotypes between the patients and 
      controls. HLA-DPB1*04:01:01 showed a significant association with AESD, exerting 
      a protective effect against the disease (p = 0.0053, p(corrected) = 0.042, odds 
      ratio = 0.43, 95% confidence interval = 0.21-0.80). The allele frequency of 
      HLA-DPB1*04:01:01 was lower in East Asians than in Caucasians, which may 
      partially account for the higher incidence of AESD in the Japanese population. 
      The present results demonstrate the importance of fine-mapping of the HLA region 
      to investigate disease susceptibilities and elucidate the pathogenesis of AESD.
CI  - (c) 2022. The Author(s), under exclusive licence to Springer Nature Limited.
FAU - Kasai, Mariko
AU  - Kasai M
AUID- ORCID: 0000-0002-8825-777X
AD  - Department of Developmental Medical Sciences, Graduate School of Medicine, The 
      University of Tokyo, Tokyo, Japan. kasaim-tky@umin.ac.jp.
AD  - Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 
      Tokyo, Japan. kasaim-tky@umin.ac.jp.
FAU - Omae, Yosuke
AU  - Omae Y
AD  - Genome Medical Science Project, National Center for Global Health and Medicine, 
      Tokyo, Japan.
FAU - Khor, Seik-Soon
AU  - Khor SS
AUID- ORCID: 0000-0002-6809-4731
AD  - Genome Medical Science Project, National Center for Global Health and Medicine, 
      Tokyo, Japan.
FAU - Shibata, Akiko
AU  - Shibata A
AUID- ORCID: 0000-0003-3084-4952
AD  - Department of Developmental Medical Sciences, Graduate School of Medicine, The 
      University of Tokyo, Tokyo, Japan.
AD  - Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 
      Tokyo, Japan.
FAU - Hoshino, Ai
AU  - Hoshino A
AD  - Department of Developmental Medical Sciences, Graduate School of Medicine, The 
      University of Tokyo, Tokyo, Japan.
FAU - Mizuguchi, Masashi
AU  - Mizuguchi M
AD  - Department of Developmental Medical Sciences, Graduate School of Medicine, The 
      University of Tokyo, Tokyo, Japan.
AD  - Department of Pediatrics, National Rehabilitation Center for Children with 
      Disabilities, Tokyo, Japan.
FAU - Tokunaga, Katsushi
AU  - Tokunaga K
AD  - Genome Medical Science Project, National Center for Global Health and Medicine, 
      Tokyo, Japan.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20220414
PL  - England
TA  - Genes Immun
JT  - Genes and immunity
JID - 100953417
RN  - 0 (HLA-DP beta-Chains)
RN  - 0 (HLA-DPB1 antigen)
RN  - 0 (Histocompatibility Antigens Class II)
SB  - IM
MH  - *Brain Diseases
MH  - Child
MH  - Child, Preschool
MH  - *Genome-Wide Association Study
MH  - HLA-DP beta-Chains/genetics
MH  - Histocompatibility Antigens Class II
MH  - Humans
MH  - Infant
MH  - Seizures/pathology
EDAT- 2022/04/16 06:00
MHDA- 2022/06/29 06:00
CRDT- 2022/04/15 05:23
PHST- 2022/02/23 00:00 [received]
PHST- 2022/03/31 00:00 [accepted]
PHST- 2022/03/30 00:00 [revised]
PHST- 2022/04/16 06:00 [pubmed]
PHST- 2022/06/29 06:00 [medline]
PHST- 2022/04/15 05:23 [entrez]
AID - 10.1038/s41435-022-00170-y [pii]
AID - 10.1038/s41435-022-00170-y [doi]
PST - ppublish
SO  - Genes Immun. 2022 Jun;23(3-4):123-128. doi: 10.1038/s41435-022-00170-y. Epub 2022 
      Apr 14.