PMID- 12356573
OWN - NLM
STAT- MEDLINE
DCOM- 20021112
LR  - 20201208
IS  - 1044-1549 (Print)
IS  - 1044-1549 (Linking)
VI  - 27
IP  - 4
DP  - 2002 Oct
TI  - HLA-DQB1*0201: a marker for good prognosis in British and Dutch patients with 
      sarcoidosis.
PG  - 406-12
AB  - Human leukocyte antigen (HLA)-DQB1 is one of the intriguing candidate genes in 
      sarcoidosis. We performed high resolution molecular HLA-DQB1 typing on two groups 
      of white patients (British [UK] and Dutch [NL]) in order to investigate the 
      relationship between 19 DQB1 alleles and disease severity and progression. A 
      total of 803 individuals were studied (133 UK and 102 NL patients, and 354 UK and 
      214 NL control subjects). Disease severity data included extrapulmonary disease, 
      chest X-ray stage, lung diffusing capacity for carbon monoxide, and FVC. 
      Progression was evaluated on follow-up chest radiographs (2 and 4 yr). The 
      results showed DQB1*0201 to be strongly protective against severe sarcoidosis in 
      both populations; in other words, it localized to Stage I at all time points (P < 
      0.0001, P(corrected) (P(c)) = 0.002), whereas another DQB1 allele, *0602, tended 
      to have opposite effects. Further, a clear association was found between the 
      *0201 allele and Lofgren's syndrome (P < 0.0001, P(c) = 0.001). More importantly, 
      carriage of this allele reduced the risk of disease progression. In contrast, the 
      other common split of DQB1*02, *0202, did not affect disease severity but was 
      mildly protective against sarcoidosis in the UK population (P = 0.02, p(c) not 
      significant). In conclusion, this study shows that DQB1*0201 is a strong marker 
      for mild sarcoidosis. Additional mapping across the DQB1*0201-DRB1*0301 
      haplotype, including specific alleles at genes such as DRB3, tumor necrosis 
      factor, lymphotoxin-alpha, I-kappa-B-like protein, and B-associated transcript 1, 
      is necessary for a final localization of the protective effect on this haplotype.
FAU - Sato, Hiroe
AU  - Sato H
AD  - Clinical Genomics Group, Department of Occupational and Environmental Medicine, 
      Imperial College of Science, Technology and Medicine, National Heart and Lung 
      Institute, London, United Kingdom.
FAU - Grutters, Jan C
AU  - Grutters JC
FAU - Pantelidis, Panagiotis
AU  - Pantelidis P
FAU - Mizzon, A Neil
AU  - Mizzon AN
FAU - Ahmad, Tariq
AU  - Ahmad T
FAU - Van Houte, Arend-Jan
AU  - Van Houte AJ
FAU - Lammers, Jan-Willem J
AU  - Lammers JW
FAU - Van Den Bosch, Jules M M
AU  - Van Den Bosch JM
FAU - Welsh, Kenneth I
AU  - Welsh KI
FAU - Du Bois, Roland M
AU  - Du Bois RM
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Respir Cell Mol Biol
JT  - American journal of respiratory cell and molecular biology
JID - 8917225
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (Genetic Markers)
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (Histocompatibility Antigens Class II)
RN  - 0 (Lymphotoxin-alpha)
RN  - 0 (NFKBIL1 protein, human)
RN  - 0 (Tumor Necrosis Factor-alpha)
RN  - 7U1EE4V452 (Carbon Monoxide)
RN  - EC 3.6.1.- (DDX39A protein, human)
RN  - EC 3.6.4.13 (DEAD-box RNA Helicases)
RN  - EC 3.6.4.13 (RNA Helicases)
SB  - IM
MH  - ATP-Binding Cassette Transporters/genetics
MH  - Adaptor Proteins, Signal Transducing
MH  - Alleles
MH  - Carbon Monoxide/metabolism
MH  - DEAD-box RNA Helicases
MH  - Disease Progression
MH  - Electrophoresis, Polyacrylamide Gel
MH  - *Genetic Markers
MH  - HLA-DQ Antigens/*genetics/metabolism
MH  - HLA-DQ beta-Chains
MH  - Haplotypes
MH  - Histocompatibility Antigens Class II/genetics
MH  - Humans
MH  - Lymphotoxin-alpha/genetics
MH  - Netherlands
MH  - Polymerase Chain Reaction
MH  - *Polymorphism, Genetic
MH  - Prognosis
MH  - RNA Helicases
MH  - Respiratory Function Tests
MH  - Sarcoidosis/*diagnosis/*genetics
MH  - Syndrome
MH  - Time Factors
MH  - Tumor Necrosis Factor-alpha/genetics
MH  - United Kingdom
EDAT- 2002/10/03 04:00
MHDA- 2002/11/26 04:00
CRDT- 2002/10/03 04:00
PHST- 2002/10/03 04:00 [pubmed]
PHST- 2002/11/26 04:00 [medline]
PHST- 2002/10/03 04:00 [entrez]
AID - 10.1165/rcmb.4782 [doi]
PST - ppublish
SO  - Am J Respir Cell Mol Biol. 2002 Oct;27(4):406-12. doi: 10.1165/rcmb.4782.