RGD Reference Report - Severity of alopecia areata is associated with a polymorphism in the interleukin-1 receptor antagonist gene. - Rat Genome Database

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Severity of alopecia areata is associated with a polymorphism in the interleukin-1 receptor antagonist gene.

Authors: Tarlow, JK  Clay, FE  Cork, MJ  Blakemore, AI  McDonagh, AJ  Messenger, AG  Duff, GW 
Citation: Tarlow JK, etal., J Invest Dermatol. 1994 Sep;103(3):387-90.
RGD ID: 6909137
Pubmed: PMID:8077705   (View Abstract at PubMed)

One of the most potent pro-inflammatory mediators is the early-acting cytokine interleukin-1. Its actions are regulated by a structurally related anti-inflammatory cytokine known as the interleukin-1 receptor antagonist. We have previously characterized a DNA polymorphism in this gene (IL-1rn) and have found associations between allele 2 and several chronic inflammatory diseases. In the present study, we tested the frequency of allele 2 of the IL-1rn gene in 90 patients with alopecia areata compared with 261 healthy controls. There was a significant association between allele 2 of the polymorphism and the severity of alopecia areata. The frequency of allele 2 increased from 24.1% in the control population to 25.9% in patchy alopecia areata, 36.1% in alopecia totalis, and 47.2% in alopecia universalis (p = 0.005). This severity association is similar to that found in other epithelial-related diseases, including inflammatory bowel disease, lichen sclerosus, and systemic lupus erythematosus.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
alopecia areata severityIAGP 6909137DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)RGD 
alopecia areata severityISOIL1RN (Homo sapiens)6909137; 6909137DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Acquired abnormal hair pattern severityIAGP 6909137DNA:repeats:intron:IVS2+914_1000dup IL1RN*2RGD 
Alopecia universalis  IAGP 6909137DNA:repeats:intron:IVS2+914_1000dup IL1RN*2RGD 
Objects Annotated

Genes (Rattus norvegicus)
Il1rn  (interleukin 1 receptor antagonist)

Genes (Mus musculus)
Il1rn  (interleukin 1 receptor antagonist)

Genes (Homo sapiens)
IL1RN  (interleukin 1 receptor antagonist)


Additional Information