PMID- 11916171
OWN - NLM
STAT- MEDLINE
DCOM- 20021010
LR  - 20190906
IS  - 0198-8859 (Print)
IS  - 0198-8859 (Linking)
VI  - 63
IP  - 1
DP  - 2002 Jan
TI  - Analysis of TAP2 polymorphisms in Finnish individuals with type I diabetes.
PG  - 61-70
AB  - Type I diabetes mellitus is an immune-mediated disease that is known to be 
      associated and linked with genes in the human leukocyte antigen (HLA) region on 
      chromome 6. Functionally, HLA class I antigen presentation may be deranged in 
      type I diabetes. The TAP1 and TAP2 transporters, which mediate the translocation 
      of antigenic peptides into the endoplasmic reticulum and whose genes are located 
      in the HLA class II region, are potential candidates for conferrring 
      predisposition to type I diabetes. Five known coding region variants (codons 379, 
      565, 651, 665, and 687) as well as three new polymorphisms of TAP2, one silent 
      (codon 604) and two intronic (nucleotide positions 49,270 and 49,471), were typed 
      in a cohort of 146 well-characterized Finnish individuals with type I diabetes 
      and 90 control subjects. Absolute linkage disequilibrium was apparent for the 
      polymorphisms at codons 604, 665, and 687 as well as the two downstream intronic 
      polymorphisms in a 613-bp region of the 3' portion of TAP2; the polymorphism at 
      codon 651, which is also present within this region, was excluded from this 
      linkage. The codon 651 polymorphism defines the allele TAP2F, the frequency of 
      which in HLA-DR4+ diabetic subjects was 5.4 times that in DR4+ controls (27 vs. 
      5%, p = 0.002, p(c) = 0.01). These data are consistent with the existence of 
      susceptibility haplotypes for type I diabetes in the Finnish population 
      consisting of DRB1*04 (*0401 and *0404), DQ8, and TAP2F.
FAU - Penfornis, Alfred
AU  - Penfornis A
AD  - Immunobiology Laboratory, Massachusetts General Hospital-East and Harvard Medical 
      School, Charlestown 02129, USA.
FAU - Tuomilehto-Wolf, Eva
AU  - Tuomilehto-Wolf E
FAU - Faustman, Denise L
AU  - Faustman DL
FAU - Hitman, Graham A
AU  - Hitman GA
CN  - DiMe (Childhood Diabetes in Finland) Study Group
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Immunol
JT  - Human immunology
JID - 8010936
RN  - 0 (ATP Binding Cassette Transporter, Subfamily B, Member 3)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (DNA Primers)
RN  - 145892-13-3 (TAP2 protein, human)
SB  - IM
MH  - ATP Binding Cassette Transporter, Subfamily B, Member 3
MH  - ATP-Binding Cassette Transporters/*genetics
MH  - Alleles
MH  - Base Sequence
MH  - Case-Control Studies
MH  - DNA Primers/genetics
MH  - Diabetes Mellitus, Type 1/*genetics
MH  - Female
MH  - Finland
MH  - Gene Frequency
MH  - Genes, MHC Class II
MH  - Genotype
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Male
MH  - Polymerase Chain Reaction
MH  - *Polymorphism, Genetic
EDAT- 2002/03/28 10:00
MHDA- 2002/10/11 04:00
CRDT- 2002/03/28 10:00
PHST- 2002/03/28 10:00 [pubmed]
PHST- 2002/10/11 04:00 [medline]
PHST- 2002/03/28 10:00 [entrez]
AID - S0198-8859(01)00365-2 [pii]
AID - 10.1016/s0198-8859(01)00365-2 [doi]
PST - ppublish
SO  - Hum Immunol. 2002 Jan;63(1):61-70. doi: 10.1016/s0198-8859(01)00365-2.