PMID- 12559634
OWN - NLM
STAT- MEDLINE
DCOM- 20030926
LR  - 20191210
IS  - 0198-8859 (Print)
IS  - 0198-8859 (Linking)
VI  - 64
IP  - 2
DP  - 2003 Feb
TI  - TNF, TNF receptor type 1, and allograft inflammatory factor-1 gene polymorphisms 
      in Japanese patients with type 1 diabetes.
PG  - 302-9
AB  - The human leukocyte antigen (HLA) class III region, located on chromosome 6p21, 
      has been regarded as one of the susceptible loci for type 1 diabetes. Because it 
      contains many genes related to inflammatory and immune responses, including tumor 
      necrosis factor (TNF), lymphotoxin-alpha (LT-alpha), and allograft inflammatory 
      factor 1 (AIF-1) genes, it is unclear which gene within the class III region is 
      responsible for the susceptibility to the disease. We sequenced the AIF-1 gene 
      region and detected three novel polymorphisms, all of which were diallelic and 
      localized at introns. Then, we investigated AIF-1, TNF, and LT-alpha gene 
      polymorphisms in 165 patients with type 1 diabetes, consisting of 90 patients 
      with young-onset type 1 diabetes, 75 patients with adult-onset type 1 diabetes, 
      and 200 control patients. We also analyzed TNF receptors type 1 (TNFR1) and type 
      2 (TNFR2) gene polymorphisms, located on chromosome 12p13 and 1p36, respectively. 
      Although there were significant differences between type 1 diabetes patients and 
      controls in the distributions of TNF promoter polymorphisms at position -1031 and 
      -857, and LT-alpha gene NcoI polymorphism, none of them was independently 
      associated with the disease after two-locus analysis with HLA class II alleles. 
      We detected the significantly increased frequency of the -383C allele, located in 
      the TNFR-1 promoter region, in both young-onset and adult-onset diabetes patients 
      compared with controls. In addition, the -383C allele was found to be associated 
      with higher expression of the TNFR1 gene than that of -383A allele in in vitro 
      expression. These results suggest that the TNFR1 gene region might be a 
      susceptible locus to type 1 diabetes in Japanese.
FAU - Nishimura, Masataka
AU  - Nishimura M
AD  - Department of the Clinical Neuroscience, Tokushima University Hospital, Japan. 
      m_nishim@clin.med.tokushima-u.ac.jp
FAU - Obayashi, Hiroshi
AU  - Obayashi H
FAU - Mizuta, Ikuko
AU  - Mizuta I
FAU - Hara, Hirokazu
AU  - Hara H
FAU - Adachi, Tetsuo
AU  - Adachi T
FAU - Ohta, Mitsuhiro
AU  - Ohta M
FAU - Tegoshi, Hisataka
AU  - Tegoshi H
FAU - Fukui, Michiaki
AU  - Fukui M
FAU - Hasegawa, Goji
AU  - Hasegawa G
FAU - Shigeta, Hirofumi
AU  - Shigeta H
FAU - Kitagawa, Yoshihiro
AU  - Kitagawa Y
FAU - Nakano, Koji
AU  - Nakano K
FAU - Kaji, Ryuji
AU  - Kaji R
FAU - Nakamura, Naoto
AU  - Nakamura N
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Immunol
JT  - Human immunology
JID - 8010936
RN  - 0 (AIF1 protein, human)
RN  - 0 (Antigens, CD)
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Lymphotoxin-alpha)
RN  - 0 (Microfilament Proteins)
RN  - 0 (Receptors, Tumor Necrosis Factor)
RN  - 0 (Receptors, Tumor Necrosis Factor, Type I)
RN  - 0 (Receptors, Tumor Necrosis Factor, Type II)
RN  - 0 (Tumor Necrosis Factor-alpha)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Antigens, CD/*genetics
MH  - Autoimmune Diseases/*genetics
MH  - Calcium-Binding Proteins/*genetics
MH  - Child
MH  - Chromosomes, Human, Pair 1/genetics
MH  - Chromosomes, Human, Pair 12/genetics
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - DNA-Binding Proteins
MH  - Diabetes Mellitus, Type 1/epidemiology/*genetics
MH  - Gene Frequency
MH  - Genetic Linkage
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - HeLa Cells
MH  - Humans
MH  - Japan/epidemiology
MH  - Lymphotoxin-alpha/genetics
MH  - Microfilament Proteins
MH  - *Polymorphism, Genetic
MH  - Promoter Regions, Genetic/genetics
MH  - Receptors, Tumor Necrosis Factor/*genetics
MH  - Receptors, Tumor Necrosis Factor, Type I
MH  - Receptors, Tumor Necrosis Factor, Type II
MH  - Transcription, Genetic
MH  - Transfection
MH  - Tumor Necrosis Factor-alpha/*genetics
EDAT- 2003/02/01 04:00
MHDA- 2003/09/27 05:00
CRDT- 2003/02/01 04:00
PHST- 2003/02/01 04:00 [pubmed]
PHST- 2003/09/27 05:00 [medline]
PHST- 2003/02/01 04:00 [entrez]
AID - S0198885902007991 [pii]
AID - 10.1016/s0198-8859(02)00799-1 [doi]
PST - ppublish
SO  - Hum Immunol. 2003 Feb;64(2):302-9. doi: 10.1016/s0198-8859(02)00799-1.