PMID- 17560301
OWN - NLM
STAT- MEDLINE
DCOM- 20070912
LR  - 20101118
IS  - 0738-081X (Print)
IS  - 0738-081X (Linking)
VI  - 25
IP  - 3
DP  - 2007 May-Jun
TI  - Genetics of sarcoidosis.
PG  - 242-9
AB  - The predisposition to sarcoidosis is genetically determined, and genetics appears 
      also to account for the variability in clinical phenotype and behaviour. Many 
      genetic loci have been investigated to date, mainly in case-control association 
      studies. However, only a small number of human leukocyte antigen (HLA) alleles 
      have been consistently associated with sarcoidosis susceptibility/phenotype. In 
      this regard, the association between Lofgren's syndrome and the extended 
      HLA-DRB1*0301/DQB1*0201 haplotype is probably the most extensively reproduced. 
      Several, generally less convincing, associations have been also reported. Of 
      these, the chemokine receptor and butyrophilin-like 2 (BTNL2) associations are 
      most promising. However, two major limitations of genetic studies are that the 
      understanding of the biological relevance of gene variations in the genome is 
      still incomplete and that the reported associations need to be verified in 
      populations of different ethnicities. Despite a number of intriguing hypotheses, 
      what causes sarcoidosis remains obscure. Genetic studies and, importantly, 
      functional analysis of candidate genes will provide insight into pathogenesis and 
      disease risk. However, if, as many believe, sarcoidosis is a heterogeneous 
      collection of disorders, a critical step will be to carefully refine the clinical 
      phenotype, as genetic studies of complex diseases are more rewording if a very 
      specific disease subset is addressed.
FAU - Spagnolo, Paolo
AU  - Spagnolo P
AD  - Interstitial Lung Disease Unit, Department of Occupational and Environmental 
      Medicine, National Heart and Lung Institute, Imperial College of Science, 
      Technology, and Medicine, London, United Kingdom. p.spagnolo@imperial.ac.uk
FAU - du Bois, Roland M
AU  - du Bois RM
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Clin Dermatol
JT  - Clinics in dermatology
JID - 8406412
RN  - 0 (Cation Transport Proteins)
RN  - 0 (Chemokines)
RN  - 0 (HLA Antigens)
RN  - 0 (Interleukin-1)
RN  - 0 (Receptors, Calcitriol)
RN  - 0 (Receptors, Chemokine)
RN  - 0 (Tumor Necrosis Factor-alpha)
RN  - 0 (natural resistance-associated macrophage protein 1)
RN  - EC 3.4.15.1 (Peptidyl-Dipeptidase A)
SB  - IM
MH  - Cation Transport Proteins/genetics
MH  - Chemokines/genetics
MH  - Genetic Linkage
MH  - HLA Antigens/genetics
MH  - Humans
MH  - Interleukin-1/genetics
MH  - *Major Histocompatibility Complex
MH  - Peptidyl-Dipeptidase A/genetics
MH  - Receptors, Calcitriol/genetics
MH  - Receptors, Chemokine/genetics
MH  - Risk Factors
MH  - Sarcoidosis/*genetics/immunology
MH  - Tumor Necrosis Factor-alpha/genetics
RF  - 80
EDAT- 2007/06/15 09:00
MHDA- 2007/09/13 09:00
CRDT- 2007/06/15 09:00
PHST- 2007/06/15 09:00 [pubmed]
PHST- 2007/09/13 09:00 [medline]
PHST- 2007/06/15 09:00 [entrez]
AID - S0738-081X(07)00055-7 [pii]
AID - 10.1016/j.clindermatol.2007.03.001 [doi]
PST - ppublish
SO  - Clin Dermatol. 2007 May-Jun;25(3):242-9. doi: 10.1016/j.clindermatol.2007.03.001.