Identification of multiple independent susceptibility loci in the HLA region in Behcet's disease.

Authors: Hughes, T  Coit, P  Adler, A  Yilmaz, V  Aksu, K  Duzgun, N  Keser, G  Cefle, A  Yazici, A  Ergen, A  Alpsoy, E  Salvarani, C  Casali, B  Kotter, I  Gutierrez-Achury, J  Wijmenga, C  Direskeneli, H  Saruhan-Direskeneli, G  Sawalha, AH 
Citation: Hughes T, etal., Nat Genet. 2013 Mar;45(3):319-24. doi: 10.1038/ng.2551. Epub 2013 Feb 10.
Pubmed: (View Article at PubMed) PMID:23396137
DOI: Full-text: DOI:10.1038/ng.2551

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.


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CRRD Object Information
CRRD ID: 7483565
Created: 2013-12-02
Species: All species
Last Modified: 2013-12-02
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.