PMID- 29762907
OWN - NLM
STAT- MEDLINE
DCOM- 20190312
LR  - 20190312
IS  - 1520-7560 (Electronic)
IS  - 1520-7552 (Linking)
VI  - 34
IP  - 7
DP  - 2018 Oct
TI  - Genetic differences between type 1 diabetes with and without other autoimmune 
      diseases.
PG  - e3023
LID - 10.1002/dmrr.3023 [doi]
AB  - BACKGROUND: Clusters of autoimmune diseases (ADs) are present in some people with 
      type 1 diabetes. This clustering suggests the existence of common genetic 
      backgrounds for abnormal autoimmunity in these individuals. However, the genetic 
      differences between type 1 diabetes patients with and without other ADs are not 
      well known. METHODS: To investigate the clinical background and genetic 
      differences between type 1 diabetes patients with and without other ADs, single 
      nucleotide polymorphisms (SNPs) in the CTLA4, SUMO4, PTPN22, IRF5, STAT4, and BLK 
      genes were analysed by using either a TaqMan assay or direct sequencing. The 
      frequencies of alleles, genotypes of each gene, and the human leukocyte antigen 
      (HLA) haplotype were analysed to investigate differences among 3 groups: type 1 
      diabetes with systemic ADs (group A), type 1 diabetes with other organ-specific 
      ADs (group B), and type 1 diabetes without other ADs (group C). RESULTS: The 
      frequency of the C allele in the -1123G > C SNP in the PTPN22 gene promoter was 
      significantly higher in groups A and B than in group C (P = .0258 and .0207, 
      respectively). The allele frequencies of the other SNPs were comparable. The 
      frequency of HLA DRB1*0405-DQB1*0401 was significantly higher in groups A and B 
      than in group C (P = .021 and .0395, respectively). CONCLUSIONS: The -1123G > C 
      SNP in the PTPN22 gene promoter and HLA DRB1*0405-DQB1*0401 might influence the 
      concurrence of systemic and organ-specific ADs in patients with type 1 diabetes.
CI  - Copyright (c) 2018 John Wiley & Sons, Ltd.
FAU - Shimura, Kanako
AU  - Shimura K
AD  - Diabetes Center, Tokyo Women's Medical University Hospital, Tokyo, Japan.
FAU - Miura, Junnosuke
AU  - Miura J
AUID- ORCID: 0000-0002-5115-1111
AD  - Diabetes Center, Tokyo Women's Medical University Hospital, Tokyo, Japan.
FAU - Kawamoto, Manabu
AU  - Kawamoto M
AD  - Institute of Rheumatology, Tokyo Women's Medical University Hospital, Tokyo, 
      Japan.
FAU - Kawaguchi, Yasushi
AU  - Kawaguchi Y
AD  - Institute of Rheumatology, Tokyo Women's Medical University Hospital, Tokyo, 
      Japan.
FAU - Yamanaka, Hisashi
AU  - Yamanaka H
AD  - Institute of Rheumatology, Tokyo Women's Medical University Hospital, Tokyo, 
      Japan.
FAU - Uchigata, Yasuko
AU  - Uchigata Y
AD  - Diabetes Center, Tokyo Women's Medical University Hospital, Tokyo, Japan.
LA  - eng
PT  - Journal Article
DEP - 20180608
PL  - England
TA  - Diabetes Metab Res Rev
JT  - Diabetes/metabolism research and reviews
JID - 100883450
RN  - 0 (CTLA-4 Antigen)
RN  - 0 (CTLA4 protein, human)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (SUMO4 protein, human)
RN  - 0 (Small Ubiquitin-Related Modifier Proteins)
RN  - EC 3.1.3.48 (PTPN22 protein, human)
RN  - EC 3.1.3.48 (Protein Tyrosine Phosphatase, Non-Receptor Type 22)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Autoimmune Diseases/*complications/*genetics
MH  - CTLA-4 Antigen/genetics
MH  - Diabetes Mellitus, Type 1/*complications/*genetics/immunology
MH  - Female
MH  - Gene Frequency
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - HLA-DQ beta-Chains/genetics
MH  - HLA-DRB1 Chains/genetics
MH  - Humans
MH  - Middle Aged
MH  - Polymorphism, Single Nucleotide
MH  - Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics
MH  - Small Ubiquitin-Related Modifier Proteins/genetics
MH  - Young Adult
OTO - NOTNLM
OT  - PTPN22
OT  - gene SNPs
OT  - human leukocyte antigen
OT  - organ-specific autoimmune disease
OT  - systemic autoimmune disease
OT  - type 1 diabetes
EDAT- 2018/05/16 06:00
MHDA- 2019/03/13 06:00
CRDT- 2018/05/16 06:00
PHST- 2017/02/19 00:00 [received]
PHST- 2018/04/16 00:00 [revised]
PHST- 2018/04/26 00:00 [accepted]
PHST- 2018/05/16 06:00 [pubmed]
PHST- 2019/03/13 06:00 [medline]
PHST- 2018/05/16 06:00 [entrez]
AID - 10.1002/dmrr.3023 [doi]
PST - ppublish
SO  - Diabetes Metab Res Rev. 2018 Oct;34(7):e3023. doi: 10.1002/dmrr.3023. Epub 2018 
      Jun 8.