RGD Reference Report - The rs2071559 AA VEGFR-2 genotype frequency is significantly lower in neovascular age-related macular degeneration patients. - Rat Genome Database

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The rs2071559 AA VEGFR-2 genotype frequency is significantly lower in neovascular age-related macular degeneration patients.

Authors: Lazzeri, S  Orlandi, P  Figus, M  Fioravanti, A  Cascio, E  Di Desidero, T  Agosta, E  Canu, B  Sartini, MS  Danesi, R  Nardi, M  Bocci, G 
Citation: Lazzeri S, etal., ScientificWorldJournal. 2012;2012:420190. doi: 10.1100/2012/420190. Epub 2012 Aug 1.
RGD ID: 8549752
Pubmed: PMID:22919317   (View Abstract at PubMed)
PMCID: PMC3415178   (View Article at PubMed Central)
DOI: DOI:10.1100/2012/420190   (Journal Full-text)

In this prospective, case-control genetic study, 120 consecutive neovascular age-related macular degeneration (AMD) cases and 78 controls were enrolled. Two SNPs (rs2071559 and rs1870377) of VEGF-A receptor-2 (VEGFR-2) gene were analyzed with the technique of Real-Time PCR to investigate a genetic link between AMD and VEGFR-2 gene polymorphisms in Italian patients. The frequency of the VEGFR-2 genotype rs2071559 AA was significantly lower (18.33%) in patients with AMD than in the control subjects (34.62%; P = 0.0095, chi-square test; P(corr) = 0.038; OR = 0.42, 95% CI 0.22 to 0.82). In conclusion, although with the limitations of a small sample size and the few SNPs studied, this study demonstrates a lower frequency of VEGFR-2 rs2071559 AA genotype in an AMD patient population, suggesting future studies on the role VEGFR-2 SNPs.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Kuhnt-Junius degeneration susceptibilityIAGP 8549752DNA:SNP: :rs2071559(human)RGD 
Kuhnt-Junius degeneration susceptibilityISOKDR (Homo sapiens)8549752; 8549752DNA:SNP: :rs2071559(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Kdr  (kinase insert domain receptor)

Genes (Mus musculus)
Kdr  (kinase insert domain protein receptor)

Genes (Homo sapiens)
KDR  (kinase insert domain receptor)


Additional Information