RGD Reference Report - Identification of multiple independent susceptibility loci in the HLA region in Behcet's disease. - Rat Genome Database

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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.
RGD ID: 7483565
Pubmed: PMID:23396137   (View Abstract at PubMed)
DOI: DOI:10.1038/ng.2551   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Behcet's disease susceptibilityISOHLA-DQB1 (Homo sapiens)7483565; 7483565DNA:polymorphisms:cds:multiple (human)RGD 
Behcet's disease susceptibilityIAGP 7483565DNA:polymorphisms:cds:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Genital ulcers susceptibilityIAGP 7483565DNA:polymorphisms:cds:multiple RGD 
Oral ulcer susceptibilityIAGP 7483565DNA:polymorphisms:cds:multiple RGD 
Uveitis susceptibilityIAGP 7483565DNA:polymorphisms:cds:multiple RGD 
Objects Annotated

Genes (Rattus norvegicus)
RT1-Bb  (RT1 class II, locus Bb)

Genes (Mus musculus)
H2-Ab1  (histocompatibility 2, class II antigen A, beta 1)

Genes (Homo sapiens)
HLA-DQB1  (major histocompatibility complex, class II, DQ beta 1)


Additional Information