PMID- 17927685
OWN - NLM
STAT- MEDLINE
DCOM- 20080515
LR  - 20221207
IS  - 0001-2815 (Print)
IS  - 0001-2815 (Linking)
VI  - 70
IP  - 6
DP  - 2007 Dec
TI  - BTNL2 allele associations with chronic beryllium disease in 
      HLA-DPB1*Glu69-negative individuals.
PG  - 480-6
AB  - Butyrophilin-like 2 (BTNL2) polymorphisms have been associated with sarcoidosis. 
      We hypothesized that BTNL2 variants might confer a human leukocyte antigen 
      (HLA)-independent risk for chronic beryllium disease (CBD), a granulomatous lung 
      disease with similar clinical, radiological, and pathological features to 
      sarcoidosis. Genomic DNA was obtained from CBD (n= 88), beryllium sensitized 
      (BeS, n= 86), and beryllium exposed nondiseased control subjects (Be-exp, n= 
      173). Six BTNL2 polymorphisms, HLA-DPB1, DRB1, and DQB1 alleles were determined 
      by sequence-specific primer-PCR. All BTNL2 polymorphisms were in Hardy-Weinberg 
      equilibrium. No significant differences were found between BTNL2 polymorphisms or 
      haplotypes and CBD, BeS, or Be-exp. In HLA-DPB1*Glu69-negative subjects (n= 10 
      CBD, n= 13 BeS, n= 102 Be-exp), DRB1*13 and BTNL2 rs3117099TT homozygosity were 
      increased in CBD (70% and 40%, respectively) vs Be-exp (16%, P= 0.001 and 2.9%, 
      P= 0.001, respectively). The BTNL2 rs3117099T-HLA-DRB1*13 combination was 
      significantly increased in CBD (50%) compared with Be-exp (6.9%, P= 0.001). In 
      conclusion, both DRB1*13 and rs3117099TT homozygosity are associated with CBD in 
      *Glu69-negative subjects, while DPB1*Glu69 is associated with CBD and BeS 
      compared with Be-exp. As a result of the small sample size and strong linkage 
      disequilibrium between DRB1*13-DQB1*0603/4/9 and the BTNL2 rs3117099T allele, it 
      is difficult to assess the primary association in DPB1*Glu69-negative CBD cases.
FAU - Sato, H
AU  - Sato H
AD  - Department of Medicine, National Jewish Medical and Research Center, Denver, CO 
      80206, USA.
FAU - Spagnolo, P
AU  - Spagnolo P
FAU - Silveira, L
AU  - Silveira L
FAU - Welsh, K I
AU  - Welsh KI
FAU - du Bois, R M
AU  - du Bois RM
FAU - Newman, L S
AU  - Newman LS
FAU - Maier, L A
AU  - Maier LA
LA  - eng
GR  - M01 RR00051/RR/NCRR NIH HHS/United States
GR  - P01 ES11810/ES/NIEHS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20071008
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (BTNL2 protein, human)
RN  - 0 (Butyrophilins)
RN  - 0 (HLA-DP Antigens)
RN  - 0 (HLA-DP beta-Chains)
RN  - 0 (HLA-DPB1 antigen)
RN  - 0 (Membrane Glycoproteins)
RN  - 3KX376GY7L (Glutamic Acid)
SB  - IM
MH  - Alleles
MH  - Berylliosis/*genetics
MH  - Butyrophilins
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - *Glutamic Acid/genetics
MH  - HLA-DP Antigens/*genetics
MH  - HLA-DP beta-Chains
MH  - Homozygote
MH  - Humans
MH  - Male
MH  - Membrane Glycoproteins/*genetics
MH  - Middle Aged
MH  - Polymorphism, Genetic
MH  - White People/genetics
EDAT- 2007/10/12 09:00
MHDA- 2008/05/16 09:00
CRDT- 2007/10/12 09:00
PHST- 2007/10/12 09:00 [pubmed]
PHST- 2008/05/16 09:00 [medline]
PHST- 2007/10/12 09:00 [entrez]
AID - TAN944 [pii]
AID - 10.1111/j.1399-0039.2007.00944.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2007 Dec;70(6):480-6. doi: 10.1111/j.1399-0039.2007.00944.x. 
      Epub 2007 Oct 8.