RGD Reference Report - Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF Genes as Risk Factors for Age-related Macular Degeneration in Indian Patients. - 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 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
Advanced Search (OLGA)

Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF Genes as Risk Factors for Age-related Macular Degeneration in Indian Patients.

Authors: Gupta, D  Gupta, V  Singh, V  Chawla, S  Parveen, F  Agrawal, S  Phadke, SR 
Citation: Gupta D, etal., Arch Med Res. 2014 Jul 19. pii: S0188-4409(14)00161-1. doi: 10.1016/j.arcmed.2014.07.005.
RGD ID: 9491392
Pubmed: PMID:25050486   (View Abstract at PubMed)
DOI: DOI:10.1016/j.arcmed.2014.07.005   (Journal Full-text)

BACKGROUND AND AIMS: Age-related macular degeneration (AMD) is an important cause of visual impairment in elderly persons. AMD is a multifactorial disease in which both environmental and genetic factors have been implicated. Various single nucleotide polymorphisms (SNPs) have been found to be associated with AMD. This study aimed to investigate the association of polymorphisms in CX3CR1, PLEKHA1 and VEGF genes with AMD in Indian patients. METHODS: Genotyping for the CX3CR1 T280M (C>T) and V249I (G>A), PLEKHA1 A320T (G>A) &VEGF +674 (C>T) and +936 (C>T) was performed in 121 AMD patients and 100 controls by polymerase chain reaction, restriction fragment length polymorphism (PCR-RFLP) and sequencing method. RESULTS: The genotype analysis of VEGF gene polymorphisms (+674 and +936) showed a significant association with AMD. Odds ratios for VEGF (+674) and VEGF (+936) were 2.37 and 2.50 with a p value 0.0029 and 0.0358 for the autosomal dominant model. CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with AMD. Odds ratios for mutant alleles of T280M and V249I polymorphisms in CX3CR1 gene were 0.95 and 0.83, respectively, compared to the wild-type alleles. Odds ratio for the polymorphism in the PLEKHA1 gene was 0.63. CONCLUSIONS: The present study suggests that both polymorphisms in VEGF gene are risk factors for AMD in the Indian population. Detection of individuals at risk could lead to strategies for prevention, early diagnosis and management of AMD.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
CX3CR1Humanmacular degeneration no_associationIAGP DNA:missense mutations:cds:p.V249I more ...RGD 
Cx3cr1Ratmacular degeneration no_associationISOCX3CR1 (Homo sapiens)DNA:missense mutations:cds:p.V249I more ...RGD 
Cx3cr1Mousemacular degeneration no_associationISOCX3CR1 (Homo sapiens)DNA:missense mutations:cds:p.V249I more ...RGD 

Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
CX3CR1HumanMacular degeneration no_associationIAGP DNA:missense mutations:cds:p.V249I more ...RGD 

Genes (Rattus norvegicus)
Cx3cr1  (C-X3-C motif chemokine receptor 1)

Genes (Mus musculus)
Cx3cr1  (C-X3-C motif chemokine receptor 1)

Genes (Homo sapiens)
CX3CR1  (C-X3-C motif chemokine receptor 1)