PMID- 17330189
OWN - NLM
STAT- MEDLINE
DCOM- 20070504
LR  - 20221207
IS  - 1069-3424 (Print)
IS  - 1069-3424 (Linking)
VI  - 28
IP  - 1
DP  - 2007 Feb
TI  - Genetics of sarcoidosis.
PG  - 15-21
AB  - Sarcoidosis likely results from an interplay of environmental and genetic 
      factors. Despite a recent large multicenter study, A Case-Control Etiologic Study 
      of Sarcoidosis (ACCESS), no single causative environmental agent has been 
      identified. Family clustering and differences in racial incidence of sarcoidosis 
      support an inherited susceptibility to sarcoidosis. Siblings of patients with 
      sarcoidosis have about a fivefold increased risk of developing sarcoidosis. 
      Certain human leukocyte antigen (HLA) alleles have been consistently associated 
      with sarcoidosis susceptibility. Furthermore, HLA-DRB1*0301/DQB1*0201 has been 
      associated with good prognosis in Lofgren's syndrome. Many candidate genes 
      studied based on their potential function in immunopathogenesis have been 
      evaluated in case-control studies, but few have been consistently associated with 
      sarcoidosis across populations. Two genome scans have been reported in 
      sarcoidosis. One in African Americans reporting linkage to chromosome 5 and the 
      other in German families reporting linkage to chromosome 6. Follow-up studies on 
      chromosome 6 identified the BTNL2 gene, a B7 family costimulatory molecule to be 
      associated with sarcoidosis. Advances in genotyping and statistical analysis are 
      helping to elucidate the genetics of sarcoidosis.
FAU - Iannuzzi, Michael C
AU  - Iannuzzi MC
AD  - Division of Pulmonary, Critical Care and Sleep Medicine, The Mount Sinai School 
      of Medicine, New York, New York 10029, USA. michael.iannuzzi@mssm.edu
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Semin Respir Crit Care Med
JT  - Seminars in respiratory and critical care medicine
JID - 9431858
RN  - 0 (BTNL2 protein, human)
RN  - 0 (Butyrophilins)
RN  - 0 (HLA Antigens)
RN  - 0 (Membrane Glycoproteins)
SB  - IM
MH  - Black or African American/genetics
MH  - Butyrophilins
MH  - Chromosomes, Human, Pair 5/genetics
MH  - Chromosomes, Human, Pair 6/genetics
MH  - Genetic Linkage
MH  - Genetic Predisposition to Disease/ethnology
MH  - Genetics, Population
MH  - Granuloma/genetics
MH  - Granuloma, Respiratory Tract/*genetics
MH  - HLA Antigens/genetics
MH  - Humans
MH  - Membrane Glycoproteins/genetics
MH  - Polymorphism, Genetic
MH  - Sarcoidosis, Pulmonary/*genetics
RF  - 90
EDAT- 2007/03/03 09:00
MHDA- 2007/05/05 09:00
CRDT- 2007/03/03 09:00
PHST- 2007/03/03 09:00 [pubmed]
PHST- 2007/05/05 09:00 [medline]
PHST- 2007/03/03 09:00 [entrez]
AID - 10.1055/s-2007-970330 [doi]
PST - ppublish
SO  - Semin Respir Crit Care Med. 2007 Feb;28(1):15-21. doi: 10.1055/s-2007-970330.