RGD Reference Report - Genetic association between juvenile rheumatoid arthritis and polymorphism in the SH2D2A gene. - Rat Genome Database

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Genetic association between juvenile rheumatoid arthritis and polymorphism in the SH2D2A gene.

Authors: Smerdel, A  Dai, KZ  Lorentzen, AR  Flato, B  Maslinski, S  Thorsby, E  Forre, O  Spurkland, A 
Citation: Smerdel A, etal., Genes Immun. 2004 Jun;5(4):310-2.
RGD ID: 2298870
Pubmed: PMID:15129233   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.gene.6364093   (Journal Full-text)

T-cell-specific adapter protein (TSAd) involved in the negative control of T-cell activation is encoded by the SH2D2A gene. Our recent studies indicate that homozygosity for short (ie GA(13) and GA(16)) alleles of the SH2D2A gene promoter is associated with development of multiple sclerosis. To study whether the same SH2D2A promoter polymorphism also contributes to the genetic susceptibility to develop juvenile rheumatoid arthritis (JRA), we examined 210 JRA patients and 558 healthy unrelated controls from Norway. The frequency of the short allele GA(13) was increased among the JRA patients compared to control (0.098 vs 0.05; P(n=8)=0.042). There was a significant increased frequency of HLA-DRB1(*)08-positive patients carrying two copies of 'short' alleles GA(13) and/or GA(16) compared to healthy controls (16% vs 6%; P(n=4)=0.016). Our data indicate that the 'short' alleles of the SH2D2A promoter could contribute to the genetic susceptibility to JRA.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
juvenile rheumatoid arthritis  IAGP 2298870DNA:polymorphism:promoterRGD 
juvenile rheumatoid arthritis  ISOSH2D2A (Homo sapiens)2298870; 2298870 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Sh2d2a  (SH2 domain containing 2A)

Genes (Mus musculus)
Sh2d2a  (SH2 domain containing 2A)

Genes (Homo sapiens)
SH2D2A  (SH2 domain containing 2A)


Additional Information