RGD Reference Report - Association of complement factor H tyrosine 402 histidine genotype with posterior involvement in sarcoid-related uveitis. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Association of complement factor H tyrosine 402 histidine genotype with posterior involvement in sarcoid-related uveitis.

Authors: Thompson, IA  Liu, B  Sen, HN  Jiao, X  Katamay, R  Li, Z  Hu, M  Hejtmancik, F  Nussenblatt, RB 
Citation: Thompson IA, etal., Am J Ophthalmol. 2013 Jun;155(6):1068-1074.e1. doi: 10.1016/j.ajo.2013.01.019. Epub 2013 Mar 14.
RGD ID: 7365014
Pubmed: PMID:23497844   (View Abstract at PubMed)
PMCID: PMC5450011   (View Article at PubMed Central)
DOI: DOI:10.1016/j.ajo.2013.01.019   (Journal Full-text)

PURPOSE: To determine whether the complement factor H (CFH) tyrosine 402 histidine (Y402H) variant, recently shown to be associated with age-related macular degeneration (AMD) and multifocal choroiditis, is associated with specific ocular sarcoidosis clinical phenotypes in black and white persons. DESIGN: Case-control study. METHODS: The CFH Y402H polymorphism (rs1061170) was genotyped in 41 subjects with ocular sarcoidosis and 393 control subjects. Allele frequencies in the ocular sarcoidosis cases were compared with controls using chi-square score tests. Genotypic model-based (dominant, recessive, and additive) associations of the rs1061170 allele were tested using multivariate logistic regression. Bayesian information criteria were used to formalize model selection. Genotypes were correlated with disease characteristics and severity of ocular inflammation. RESULTS: The C allele (rs1061170) was found in 35% of controls, but occurred with a significantly higher frequency (48.7%) in ocular sarcoidosis cases (odds ratio, 1.72; 95% confidence interval, 1.09 to 2.78; P = .018). Logistic regression demonstrated an association between rs1061170 and ocular sarcoidosis in 2 of 3 genetic models (additive, P = .0078; recessive, P = .0018). Posterior uveitis and panuveitis were overrepresented significantly in cases with the homozygous variant genotype (CC, 91%; P = .047). The population-attributable risk related to this CFH risk variant was 20%. CONCLUSIONS: The Y402H polymorphism of CFH seems to be associated with ocular sarcoidosis in black and white persons. Carriage of the CFH Y402H polymorphism in both alleles is associated with an increased risk for posterior uveitis and panuveitis presentation. The prognostic importance of this genotype will require prolonged follow-up studies.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
panuveitis susceptibilityIAGP 7365014DNA:SNP:cds:p.Y402H(human)RGD 
panuveitis susceptibilityISOCFH (Homo sapiens)7365014; 7365014DNA:SNP:cds:p.Y402H(human)RGD 
posterior uveitis susceptibilityIAGP 7365014DNA:SNP:cds:p.Y402H(human)RGD 
posterior uveitis susceptibilityISOCFH (Homo sapiens)7365014; 7365014DNA:SNP:cds:p.Y402H(human)RGD 
sarcoidosis susceptibilityIAGP 7365014DNA:SNP:cds:p.Y402H(human)RGD 
sarcoidosis susceptibilityISOCFH (Homo sapiens)7365014; 7365014DNA:SNP:cds:p.Y402H(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cfh  (complement factor H)

Genes (Mus musculus)
Cfh  (complement component factor h)

Genes (Homo sapiens)
CFH  (complement factor H)


Additional Information