RGD Reference Report - HLA-DRB1* alleles and symptoms associated with Heerfordt's syndrome in sarcoidosis. - Rat Genome Database

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HLA-DRB1* alleles and symptoms associated with Heerfordt's syndrome in sarcoidosis.

Authors: Darlington, P  Tallstedt, L  Padyukov, L  Kockum, I  Cederlund, K  Eklund, A  Grunewald, J 
Citation: Darlington P, etal., Eur Respir J. 2011 Jun 9.
RGD ID: 5147562
Pubmed: PMID:21565911   (View Abstract at PubMed)
DOI: DOI:10.1183/09031936.00025011   (Journal Full-text)

Heerfordt's syndrome (HS), consists in its complete form of uveitis, parotid or salivary gland enlargement and cranial nerve palsy. The objective of the present study was to analyse if there are links also between HLA-DRB1* alleles and HS, since it is a specific phenotype of sarcoidosis. 1000 patients with sarcoidosis, out of which 83 had symptoms associated with HS, were included in the study together with a group of 2000 healthy individuals from the same population, matched for gender and age. HLA-DRB1* allelic groups were determined for all individuals, and comparisons were made between different disease subgroups and between patients and healthy controls. We found that the HLA-DRB1*04 allele was overrepresented in patients with symptoms associated with HS. Eighty-three (8.3%) of all patients had one or more of the symptoms and forty-six (55%) of them were HLA-DRB1*04 positive. Forty-four (55%) of the patients with ocular sarcoidosis, i.e. the most common symptom associated with HS, were HLA-DRB1*04 positive, compared to 35.9% of healthy controls (p=0.0008), and only 26.6% of the whole group of sarcoidosis patients (p<0.0001). HLA-DRB1*04 seems to protect against overall sarcoidosis, but to be a significant risk factor for ocular sarcoidosis as well as for other manifestations associated with HS.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
H2-Eb1Mouseuveoparotid fever susceptibilityISOHLA-DRB1 (Homo sapiens)DNA:polymorphism (human)RGD 
HLA-DRB1Humanuveoparotid fever susceptibilityIAGP DNA:polymorphism (human)RGD 
RT1-Db1Ratuveoparotid fever susceptibilityISOHLA-DRB1 (Homo sapiens)DNA:polymorphism (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
RT1-Db1  (RT1 class II, locus Db1)

Genes (Mus musculus)
H2-Eb1  (histocompatibility 2, class II antigen E beta)

Genes (Homo sapiens)
HLA-DRB1  (major histocompatibility complex, class II, DR beta 1)


Additional Information