RGD Reference Report - Punctate inner choroidopathy and multifocal choroiditis with panuveitis share haplotypic associations with IL10 and TNF loci. - Rat Genome Database

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Punctate inner choroidopathy and multifocal choroiditis with panuveitis share haplotypic associations with IL10 and TNF loci.

Authors: Atan, D  Fraser-Bell, S  Plskova, J  Kuffova, L  Hogan, A  Tufail, A  Kilmartin, DJ  Forrester, JV  Bidwell, JL  Dick, AD  Churchill, AJ 
Citation: Atan D, etal., Invest Ophthalmol Vis Sci. 2011 Jun 1;52(6):3573-81. doi: 10.1167/iovs.10-6743.
RGD ID: 7364844
Pubmed: PMID:21357402   (View Abstract at PubMed)
DOI: DOI:10.1167/iovs.10-6743   (Journal Full-text)

PURPOSE: The white-dot syndromes are a heterogenous group of chorioretinal disorders that have many common clinical features. Whether these disorders represent distinct clinical entities or different manifestations of the same disease warrants further interrogation. Two white-dot syndromes were investigated, with closely overlapping phenotypes--multifocal choroiditis with panuveitis (MFCPU) and punctate inner choroidopathy (PIC)--for differences in clinical course and genotype frequency at IL10 and TNF loci, known to be associated with noninfectious uveitis. METHODS: Twelve polymorphisms were genotyped, spanning the TNFA and IL10 genomic regions, in 61 patients with MFCPU or PIC and 92 population controls from the United Kingdom and Republic of Ireland. RESULTS: There were clear differences in clinical course between patients with MFCPU and PIC which had prognostic significance. However, both patient groups demonstrated similar associations with the IL10 haplotype, IL10htSNP2(-2849)AX/htSNP5(+434)TC and negative associations with the TNF haplotype, LTA+252A/TNFhtSNP1(-308)G/TNFhtSNP2(-238)G/TNFhtSNP3(+488)A/TNFd3. CONCLUSIONS: Despite clear differences in clinical course and outcome, MFCPU and PIC may still represent two manifestations of the same disease, given their similar genetic associations with IL10 and TNF loci, which are known to be associated with noninfectious uveitis and autoimmunity, in general. Definitive proof will necessitate genomewide sequence analysis. However, the data also support the notion that epigenetic factors have a strong effect on clinical phenotype.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
IL10Humanchoroid disease  IAGP DNA:SNP:promoter:rs6703630 (human)RGD 
Il10Ratchoroid disease  ISOIL10 (Homo sapiens)DNA:SNP:promoter:rs6703630 (human)RGD 
Il10Mousechoroid disease  ISOIL10 (Homo sapiens)DNA:SNP:promoter:rs6703630 (human)RGD 
IL10Humanpanuveitis  IAGP associated with Multifocal Choroiditis and DNA:SNP:intron: (rs2222202) (human)RGD 
Il10Ratpanuveitis  ISOIL10 (Homo sapiens)associated with Multifocal Choroiditis and DNA:SNP:intron: (rs2222202) (human)RGD 
Il10Mousepanuveitis  ISOIL10 (Homo sapiens)associated with Multifocal Choroiditis and DNA:SNP:intron: (rs2222202) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
IL10HumanPanuveitis  IAGP associated with Multifocal Choroiditis and DNA:SNP:intron: (rs2222202)RGD 
IL10HumanVitritis  IAGP associated with Multifocal Choroiditis and DNA:SNP:intron: (rs2222202)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Il10  (interleukin 10)

Genes (Mus musculus)
Il10  (interleukin 10)

Genes (Homo sapiens)
IL10  (interleukin 10)


Additional Information