PMID- 17119950
OWN - NLM
STAT- MEDLINE
DCOM- 20070322
LR  - 20221207
IS  - 0093-7711 (Print)
IS  - 0093-7711 (Linking)
VI  - 59
IP  - 1
DP  - 2007 Jan
TI  - Two critical genes (HLA-DRB1 and ABCF1)in the HLA region are associated with the 
      susceptibility to autoimmune pancreatitis.
PG  - 45-52
AB  - We have previously reported that autoimmune pancreatitis (AIP) is a bioclinical 
      entity characterized by high serum immunoglobulin G4 concentrations and 
      association with the HLA-DRB1*0405-DQB1*0401 haplotype. However, the precise 
      identity of gene(s) within this haplotype directly responsible for AIP 
      pathogenesis is yet to be established. To dissect the genetic contribution of the 
      incriminated haplotype, we have now performed an association analysis within the 
      human leukocyte antigen (HLA) region using various types of polymorphic markers. 
      Genomic DNAs from 43 AIP patients and 213 unrelated Japanese controls were used 
      in this analysis. In each DNA sample, we established the genotype of 25 
      microsatellite markers distributed throughout the HLA region, that of single 
      nucleotide polymorphism within the 5'-flanking regions of the TNFA and IkBLI 
      (also known as NFKBIL1) as well as HLA class I and II genes. The HLA-linked 
      susceptibility regions for AIP were localized to two segments: HLA-DRB1 (*0405; 
      OR = 3.20, P = 0.00063, Pc = 0.0016) -DQB1 (*0401; OR = 3.29, P = 0.00046, Pc = 
      0.0069) in the HLA class II and C3-2-11 microsatellite (allele 219; OR = 2.96, P 
      = 0.0076, Pc = 0.099) in the HLA class I regions. Upon stratification analysis in 
      search for a synergistic effect given the extensive linkage disequilibrium within 
      the major histocompatibility complex, it was established that each segment 
      contributed to disease pathogenesis. The two critical HLA regions for 
      susceptibility to AIP are limited to the HLA-DRB1*0405-DQB1*0401 in the class II 
      and the ABCF1 proximal to C3-2-11, telomeric of HLA-E, in the class I regions.
FAU - Ota, Masao
AU  - Ota M
AD  - Department of Legal Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, 
      Matsumoto 390-8621, Japan. otamasao@sch.md.shinshu-u.ac.jp
FAU - Katsuyama, Yoshihiko
AU  - Katsuyama Y
FAU - Hamano, Hideaki
AU  - Hamano H
FAU - Umemura, Takeji
AU  - Umemura T
FAU - Kimura, Akinori
AU  - Kimura A
FAU - Yoshizawa, Kaname
AU  - Yoshizawa K
FAU - Kiyosawa, Kendo
AU  - Kiyosawa K
FAU - Fukushima, Hirofumi
AU  - Fukushima H
FAU - Bahram, Seiamak
AU  - Bahram S
FAU - Inoko, Hidetoshi
AU  - Inoko H
FAU - Kawa, Shigeyuki
AU  - Kawa S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20061121
PL  - United States
TA  - Immunogenetics
JT  - Immunogenetics
JID - 0420404
RN  - 0 (ABCF1 protein, human)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (Histocompatibility Antigens Class II)
RN  - 0 (NFKBIL1 protein, human)
RN  - 0 (Tumor Necrosis Factor-alpha)
SB  - IM
MH  - ATP-Binding Cassette Transporters/*genetics
MH  - Adaptor Proteins, Signal Transducing
MH  - Asian People/genetics
MH  - Autoimmune Diseases/*genetics
MH  - Case-Control Studies
MH  - Genes, MHC Class II
MH  - *Genetic Predisposition to Disease
MH  - HLA-DR Antigens/*genetics
MH  - HLA-DRB1 Chains
MH  - Haplotypes
MH  - Histocompatibility Antigens Class I
MH  - Histocompatibility Antigens Class II/genetics
MH  - Humans
MH  - Microsatellite Repeats/genetics
MH  - Pancreatitis/*genetics
MH  - Polymorphism, Genetic
MH  - Tumor Necrosis Factor-alpha/genetics
EDAT- 2006/11/23 09:00
MHDA- 2007/03/23 09:00
CRDT- 2006/11/23 09:00
PHST- 2006/08/17 00:00 [received]
PHST- 2006/10/29 00:00 [accepted]
PHST- 2006/11/23 09:00 [pubmed]
PHST- 2007/03/23 09:00 [medline]
PHST- 2006/11/23 09:00 [entrez]
AID - 10.1007/s00251-006-0178-2 [doi]
PST - ppublish
SO  - Immunogenetics. 2007 Jan;59(1):45-52. doi: 10.1007/s00251-006-0178-2. Epub 2006 
      Nov 21.