RGD Reference Report - HTRA1 variant confers similar risks to geographic atrophy and neovascular age-related macular degeneration. - 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

HTRA1 variant confers similar risks to geographic atrophy and neovascular age-related macular degeneration.

Authors: Cameron, DJ  Yang, Z  Gibbs, D  Chen, H  Kaminoh, Y  Jorgensen, A  Zeng, J  Luo, L  Brinton, E  Brinton, G  Brand, JM  Bernstein, PS  Zabriskie, NA  Tang, S  Constantine, R  Tong, Z  Zhang, K 
Citation: Cameron DJ, etal., Cell Cycle. 2007 May 2;6(9):1122-5. Epub 2007 May 16.
RGD ID: 7394693
Pubmed: PMID:17426452   (View Abstract at PubMed)
DOI: DOI:10.4161/cc.6.9.4157   (Journal Full-text)

Age-related macular degeneration (AMD) is the most common cause of irreversible visual impairment in the developed world. The two forms of advanced AMD, geographic atrophy (GA) and choroidal neovascularization (wet AMD), represent two types of degenerative processes in the macula that lead to loss of central vision. Soft confluent drusen, characterized by deposits in macula without visual loss are considered a precursor of advanced AMD. A single nucleotide polymorphism, rs11200638, in the promoter of HTRA1 has been shown to increases the risk for wet AMD. However, its impact on soft confluent drusen and GA or the relationship between them is unclear. To better understand the role the HTRA1 polymorphism plays in AMD subtypes, we genotyped an expanded Utah population with 658 patients having advanced AMD or soft confluent drusen and 294 normal controls and found that the rs11200638 was significantly associated with GA. This association remains significant conditional on LOC387715 rs10490924. In addition, rs11200638 was significantly associated with soft confluent drusen, which are strongly immunolabeled with HTRA1 antibody in an AMD eye with GA similar to wet AMD. Two-locus analyses were performed for CFH Y402H variant at 1q31 and the HTRA1 polymorphism. Together CFH and HTRA1 risk variants increase the odds of having AMD by more than 40 times. These findings expand the role of HTRA1 in AMD. Understanding the underlying molecular mechanism will provide an important insight in pathogenesis of AMD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Geographic Atrophy  IAGP 7394693DNA:snp:promoter:g.-625G>A (rs11200638) (human)RGD 
Geographic Atrophy  ISOHTRA1 (Homo sapiens)7394693; 7394693DNA:snp:promoter:g.-625G>A (rs11200638) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Retinal atrophy  IAGP 7394693DNA:snp:promoter:g.-625G>A (rs11200638)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Htra1  (HtrA serine peptidase 1)

Genes (Mus musculus)
Htra1  (HtrA serine peptidase 1)

Genes (Homo sapiens)
HTRA1  (HtrA serine peptidase 1)


Additional Information