PMID- 24257369
OWN - NLM
STAT- MEDLINE
DCOM- 20140730
LR  - 20190412
IS  - 1531-6963 (Electronic)
IS  - 1040-8711 (Linking)
VI  - 26
IP  - 1
DP  - 2014 Jan
TI  - Genetics of Behcet's disease: lessons learned from genomewide association 
      studies.
PG  - 56-63
LID - 10.1097/BOR.0000000000000003 [doi]
AB  - PURPOSE OF REVIEW: Behcet's disease is a complex disease, and genetic 
      susceptibility plays a critical role. This review aimed to discuss the recent 
      genomewide association study (GWAS) findings and their implications to the 
      pathogenesis of Behcet's disease. RECENT FINDINGS: GWAS data confirmed the major 
      role of HLA-B51 in Behcet's disease susceptibility, and the discovery of 
      epistatic interactions between HLA-B51 and ERAP1 variants provided some hints 
      about its possible pathogenic mechanisms. Investigation of human leukocyte 
      antigen (HLA) Class I region showed weaker but independent associations around 
      HLA-A and HLA-C regions. Genomewide studies also established associations with 
      IL10, IL23R, CCR1, STAT4, KLRC4, GIMAP2/GIMAP4, and UBAC2 genes in Behcet's 
      disease patients of different ethnicities. Deep resequencing of targeted genes 
      identified additional associations with rare variants in TLR4, MEFV, and NOD2 
      genes. SUMMARY: GWAS data established a major step forward by providing insights 
      into the underlying mechanisms in Behcet's disease with the discovery of new 
      susceptibility genes. These variations may implicate defects in the sensing and 
      processing of microbial and endogenous danger signals as well as in the 
      regulation of innate and adaptive immune responses in Behcet's disease. 
      Association findings with HLA Class I antigens as well as IL23R, ERAP1, IL10, and 
      MEFV genes also suggest shared inflammatory pathways with spondyloarthropathies.
FAU - Gul, Ahmet
AU  - Gul A
AD  - Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of 
      Medicine, Istanbul University, Istanbul, Turkey.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Curr Opin Rheumatol
JT  - Current opinion in rheumatology
JID - 9000851
RN  - 0 (CCR1 protein, human)
RN  - 0 (HLA-B51 Antigen)
RN  - 0 (KLRC4 protein, human)
RN  - 0 (Minor Histocompatibility Antigens)
RN  - 0 (NK Cell Lectin-Like Receptor Subfamily C)
RN  - 0 (Receptors, CCR1)
RN  - 0 (STAT4 Transcription Factor)
RN  - 0 (STAT4 protein, human)
RN  - 0 (UBA2 protein, human)
RN  - EC 3.4.11.- (Aminopeptidases)
RN  - EC 3.4.11.- (ERAP1 protein, human)
RN  - EC 6.2.1.45 (Ubiquitin-Activating Enzymes)
SB  - IM
MH  - Aminopeptidases/genetics
MH  - Behcet Syndrome/*genetics/immunology
MH  - Genes, MHC Class I/genetics
MH  - Genetic Predisposition to Disease
MH  - Genome-Wide Association Study/*methods
MH  - HLA-B51 Antigen/genetics
MH  - Humans
MH  - Minor Histocompatibility Antigens
MH  - NK Cell Lectin-Like Receptor Subfamily C/genetics
MH  - Receptors, CCR1/genetics
MH  - STAT4 Transcription Factor/genetics
MH  - Ubiquitin-Activating Enzymes/genetics
EDAT- 2013/11/22 06:00
MHDA- 2014/07/31 06:00
CRDT- 2013/11/22 06:00
PHST- 2013/11/22 06:00 [entrez]
PHST- 2013/11/22 06:00 [pubmed]
PHST- 2014/07/31 06:00 [medline]
AID - 10.1097/BOR.0000000000000003 [doi]
PST - ppublish
SO  - Curr Opin Rheumatol. 2014 Jan;26(1):56-63. doi: 10.1097/BOR.0000000000000003.