PMID- 7903260
OWN - NLM
STAT- MEDLINE
DCOM- 19940121
LR  - 20190515
IS  - 0012-1797 (Print)
IS  - 0012-1797 (Linking)
VI  - 43
IP  - 1
DP  - 1994 Jan
TI  - Major histocompatibility complex-encoded antigen processing gene polymorphism in 
      IDDM.
PG  - 110-7
AB  - Susceptibility to insulin-dependent diabetes mellitus (IDDM) is greatly 
      influenced by polymorphisms in the genes of the class II region of the human 
      leukocyte antigen (HLA) complex. The complexity of this genetic association and 
      the lack of a direct proof of involvement of HLA class II genes in human IDDM 
      have continued to support speculation on a possible role of genes encoded in the 
      close vicinity of these loci in IDDM. Because the recently discovered transporter 
      associated with antigen processing (TAP) and large multifunctional protease (LMP) 
      genes are encoded in the HLA class II region and are implicated in the processing 
      of antigenic proteins for presentation by HLA class I molecules, they are 
      additional candidates for a role in IDDM pathogenesis. We have analyzed genomic 
      and coding sequence polymorphisms in the LMP2, TAP1, and TAP2 genes of 77 Danish 
      IDDM patients and 102 control subjects. Although patients and control subjects 
      did not differ in TAP1 and LMP2 alleles, we found a striking absence of the TAP2 
      allele B (long form) in IDDM patients. An analysis of the TAP2 alleles in 
      individual DR types, however, revealed that this phenomenon is likely to be 
      caused by linkage disequilibrium between the two loci. Thus, polymorphisms in the 
      TAP and LMP genes are unlikely to be associated with IDDM.
FAU - van Endert, P M
AU  - van Endert PM
AD  - Department of Microbiology, Stanford University School of Medicine, CA 
      94305-5402.
FAU - Liblau, R S
AU  - Liblau RS
FAU - Patel, S D
AU  - Patel SD
FAU - Fugger, L
AU  - Fugger L
FAU - Lopez, T
AU  - Lopez T
FAU - Pociot, F
AU  - Pociot F
FAU - Nerup, J
AU  - Nerup J
FAU - McDevitt, H O
AU  - McDevitt HO
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Diabetes
JT  - Diabetes
JID - 0372763
RN  - 0 (ATP Binding Cassette Transporter, Subfamily B, Member 2)
RN  - 0 (ATP Binding Cassette Transporter, Subfamily B, Member 3)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Carrier Proteins)
RN  - 0 (Codon)
RN  - 0 (DNA Primers)
RN  - 0 (DNA Probes)
RN  - 0 (Histocompatibility Antigens Class II)
RN  - 0 (Proteins)
RN  - 0 (TAP1 protein, human)
RN  - 144416-78-4 (LMP-2 protein)
RN  - 145892-13-3 (TAP2 protein, human)
RN  - EC 3.4.22.- (Cysteine Endopeptidases)
SB  - IM
MH  - ATP Binding Cassette Transporter, Subfamily B, Member 2
MH  - ATP Binding Cassette Transporter, Subfamily B, Member 3
MH  - *ATP-Binding Cassette Transporters
MH  - Adult
MH  - Alleles
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Carrier Proteins/genetics
MH  - Codon
MH  - *Cysteine Endopeptidases
MH  - DNA Primers
MH  - DNA Probes
MH  - Diabetes Mellitus, Type 1/*genetics/*immunology
MH  - Female
MH  - *Genes, MHC Class I
MH  - *Genes, MHC Class II
MH  - Histocompatibility Antigens Class II/genetics
MH  - Humans
MH  - *Major Histocompatibility Complex
MH  - Male
MH  - Molecular Sequence Data
MH  - Polymerase Chain Reaction
MH  - *Polymorphism, Restriction Fragment Length
MH  - Proteins/genetics
MH  - Reference Values
MH  - Restriction Mapping
EDAT- 1994/01/01 00:00
MHDA- 1994/01/01 00:01
CRDT- 1994/01/01 00:00
PHST- 1994/01/01 00:00 [pubmed]
PHST- 1994/01/01 00:01 [medline]
PHST- 1994/01/01 00:00 [entrez]
AID - 10.2337/diab.43.1.110 [doi]
PST - ppublish
SO  - Diabetes. 1994 Jan;43(1):110-7. doi: 10.2337/diab.43.1.110.