PMID- 23396137
OWN - NLM
STAT- MEDLINE
DCOM- 20130530
LR  - 20211021
IS  - 1546-1718 (Electronic)
IS  - 1061-4036 (Linking)
VI  - 45
IP  - 3
DP  - 2013 Mar
TI  - Identification of multiple independent susceptibility loci in the HLA region in 
      Behcet's disease.
PG  - 319-24
LID - 10.1038/ng.2551 [doi]
AB  - Behcet's disease is an inflammatory disease characterized by recurrent oral and 
      genital ulcers and significant organ involvement. Localizing the genetic 
      association between HLA-B*51 and Behcet's disease and exploring additional 
      susceptibility loci in the human leukocyte antigen (HLA) region are complicated 
      by the strong linkage disequilibrium in this region. We genotyped 8,572 variants 
      in the extended HLA locus and carried out imputation and meta-analysis of 24,834 
      variants in 2 independent Behcet's disease cohorts from 2 ancestry groups. 
      Genotyped SNPs were used to infer classical HLA alleles in the HLA-A, HLA-B, 
      HLA-C, HLA-DQA1, HLA-DQB1 and HLA-DRB1 loci. Our data suggest that the robust 
      HLA-B*51 association in Behcet's disease is explained by a variant located 
      between the HLA-B and MICA genes (rs116799036: odds ratio (OR) = 3.88, P = 9.42 x 
      10(-50)). Three additional independent genetic associations within PSORS1C1 
      (rs12525170: OR = 3.01, P = 3.01 x 10(-26)), upstream of HLA-F-AS1 (rs114854070: 
      OR = 1.95, P = 7.84 x 10(-14)) and with HLA-Cw*1602 (OR = 5.38, P = 6.07 x 
      10(-18)) were also identified and replicated.
FAU - Hughes, Travis
AU  - Hughes T
AD  - Department of Internal Medicine, Division of Rheumatology, University of 
      Michigan, Ann Arbor, Michigan, USA.
FAU - Coit, Patrick
AU  - Coit P
FAU - Adler, Adam
AU  - Adler A
FAU - Yilmaz, Vuslat
AU  - Yilmaz V
FAU - Aksu, Kenan
AU  - Aksu K
FAU - Duzgun, Nursen
AU  - Duzgun N
FAU - Keser, Gokhan
AU  - Keser G
FAU - Cefle, Ayse
AU  - Cefle A
FAU - Yazici, Ayten
AU  - Yazici A
FAU - Ergen, Andac
AU  - Ergen A
FAU - Alpsoy, Erkan
AU  - Alpsoy E
FAU - Salvarani, Carlo
AU  - Salvarani C
FAU - Casali, Bruno
AU  - Casali B
FAU - Kotter, Ina
AU  - Kotter I
FAU - Gutierrez-Achury, Javier
AU  - Gutierrez-Achury J
FAU - Wijmenga, Cisca
AU  - Wijmenga C
FAU - Direskeneli, Haner
AU  - Direskeneli H
FAU - Saruhan-Direskeneli, Guher
AU  - Saruhan-Direskeneli G
FAU - Sawalha, Amr H
AU  - Sawalha AH
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130210
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (HLA-B51 Antigen)
RN  - 0 (HLA-C Antigens)
RN  - 0 (HLA-F antigens)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (MHC class I-related chain A)
RN  - 0 (PSORS1C1 protein, human)
RN  - 0 (Proteins)
SB  - IM
MH  - Alleles
MH  - Behcet Syndrome/*genetics
MH  - Chromosome Mapping
MH  - *Genetic Association Studies
MH  - *Genetic Predisposition to Disease
MH  - HLA-B51 Antigen/*genetics
MH  - HLA-C Antigens/genetics
MH  - Haplotypes
MH  - Histocompatibility Antigens Class I/genetics
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Polymorphism, Single Nucleotide
MH  - Proteins/genetics
EDAT- 2013/02/12 06:00
MHDA- 2013/06/01 06:00
CRDT- 2013/02/12 06:00
PHST- 2012/08/30 00:00 [received]
PHST- 2013/01/09 00:00 [accepted]
PHST- 2013/02/12 06:00 [entrez]
PHST- 2013/02/12 06:00 [pubmed]
PHST- 2013/06/01 06:00 [medline]
AID - ng.2551 [pii]
AID - 10.1038/ng.2551 [doi]
PST - ppublish
SO  - Nat Genet. 2013 Mar;45(3):319-24. doi: 10.1038/ng.2551. Epub 2013 Feb 10.