Human | HMCN1 | 83872 | hemicentin 1 | Title:a novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among northern irish age related macular degeneration patients|Association:Not Found|Conclusion:We describe a rapid assay for the genotyping of the Gln5345Arg mutation using real-time fluorescence PCR to facilitate rapid processing of samples through combined amplification and detection steps. These characteristics are suitable for a clinical setting where high throughput diagnostic procedures are required. The frequency of this mutation within the Northern Ireland population has been estimated at 0.2%, concurring with previous findings that this mutation is a rare variant associated with AMD. A rapid diagnostic assay will facilitate a reliable and convenient evaluation of the frequency of the Gln5345Arg mutation and its association with AMD within other populations. None of our subjects (258 macular degeneration,AMD, cases, 72 non-AMD controls) had the Gln5345Arg variant in the HMCN1 gene |
Human | XYLT2 | 64132 | xylosyltransferase II | |
Human | XYLT1 | 64131 | xylosyltransferase I | |
Human | PLEKHA1 | 59338 | pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 | Title:|Association:Not Found|Conclusion:Not Found |
Human | CNGB3 | 54714 | cyclic nucleotide gated channel beta 3 | |
Human | FSCN2 | 25794 | fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) | The 208delG mutation in the FSCN2 gene produces not only autosomal dominant retinitis pigmentosa but also ADMD (autosomal dominant macular degeneration) Title:Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene.|Association:Y|Conclusion:The 208delG mutation in the FSCN2 gene produces not only autosomal dominant retinitis pigmentosa but also ADMD in the Japanese population. This mutation is relatively common in Japanese patients with autosomal dominant retinal degeneration and showed clinical variability. CLINICAL RELEVANCE: Autosomal dominant retinitis pigmentosa and ADMD can be caused by the same 208delG mutation. We suggest that mutations in the FSCN2 gene can lead to a spectrum of phenotypes. |
Human | FBLN5 | 10516 | fibulin 5 | Title:Missense variations in the fibulin 5 gene and age-related macular degeneration.|Association:Not Found|Conclusion:Missense mutations in the fibulin 5 gene were found in 1.7 percent of patients with AMD. Many variations in other fibulin genes were also found in these patients, and the evolutionary conservation of the affected residues suggests that several of these variations may also be involved in AMD. |
Human | NR2E3 | 10002 | nuclear receptor subfamily 2, group E, member 3 | INFERRED, Score=800, UMLKSK CUI: C0024437 |
Human | PROM1 | 8842 | prominin 1 | Mutant PROM1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice |
Human | BEST1 | 7439 | bestrophin 1 | Understanding the structure of the anion conduction pathway of bestrophins provides insights into how mutations produce channel dysfunction and may provide important information for development of therapeutic strategies for treating macular degeneration |
Human | VEGFA | 7422 | vascular endothelial growth factor A | Title:Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF,VLDLR, and LRP6|Association:Not Found|Conclusion:These data suggest that LRP6, VEGF, and VLDLR may play a role in the risk of developing AMD. |
Human | TLR4 | 7099 | toll-like receptor 4 | Title:Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.|Association:Not Found|Conclusion:The APOE4 is a risk factor and demonstrated a dose-dependent effect while APOE2 allele conferred a protection to AD. The MTHFR mutation had no correlation with AD. |
Human | TLR3 | 7098 | toll-like receptor 3 | The TLR3 412Phe variant confers protection against geographic atrophy in macular degeneration |
Human | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | mutations in ELOVL4 result in the intracellular misrouting of the protein in macular degeneration |
Human | SOD2 | 6648 | superoxide dismutase 2, mitochondrial | Title:Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration|Association:Not Found|Conclusion:The results suggest that manganese superoxide dismutase gene polymorphism is associated with exudative age-related macular degeneration. Microsomal epoxide hydrolase is another enzyme that may be associated with the disease. The exudative form of age-related macular degeneration may have genetic risk factors against oxidative stress and/or effects of xenobiotics. Further association studies in other polymorphic genes for xenobiotic-metabolizing enzymes are needed to elucidate the environmental-genetic interaction in the underlying cause of age-related macular degeneration. Title:Association study of detoxification genes in age related macular degeneration|Association:Not Found|Conclusion:This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR. |
Human | ATXN7 | 6314 | ataxin 7 | |
Human | RLBP1 | 6017 | retinaldehyde binding protein 1 | Retinitis punctata albescens and macular degeneration starting in late childhood to early teens |
Human | PRPH2 | 5961 | peripherin 2 (retinal degeneration, slow) | Peptide mass-signature genotyping applied to the RDS/peripherin gene of 16 individuals from a family exhibiting autosomal dominant macular degeneration revealed an A-->T transversion in the 5' splice site of intron 2 that is the likely cause of disease |
Human | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | |
Human | PON1 | 5444 | paraoxonase 1 | Title:Association study of detoxification genes in age related macular degeneration|Association:Not Found|Conclusion:This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR. Title:Paraoxonase gene polymorphisms and plasma oxidized low-density lipoprotein level as possible risk factors for exudative age-related macular degeneration|Association:Y|Conclusion:These results indicate that the paraoxonase gene polymorphisms may represent a possible genetic risk factor for age-related macular degeneration and that increased plasma oxidized low-density lipoprotein may be involved in the pathogenesis of age-related macular degeneration. Title:Association of the M55L and Q192R paraoxonase gene polymorphisms with age-related macular degeneration.|Association:Y|Conclusion:The M55L and Q192R SNPs of the PON1 gene do not appear to be associated with late AMD in individuals of Anglo-Celtic descent. |
Human | PGF | 5228 | placental growth factor | INFERRED, Score=800, UMLKSK CUI: C0024437 |
Human | MMP9 | 4318 | matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) | Title:MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration.|Association:Y|Conclusion:Longer microsatellites in the promoter of MMP-9 are associated to the exudative form of AMD and to body mass index, a well-known risk factor for the disease. |
Human | LRP6 | 4040 | low density lipoprotein receptor-related protein 6 | Title:Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF,VLDLR, and LRP6|Association:Not Found|Conclusion:These data suggest that LRP6, VEGF, and VLDLR may play a role in the risk of developing AMD. |
Human | HLA-DRB1 | 3123 | | Title:Association of HLA class I and class II polymorphisms with age-related macular degeneration.|Association:Not Found|Conclusion:Significant positive and negative associations exist between HLA alleles and AMD. HLA polymorphisms influence the development of AMD, possibly via modulating choroidal immune function. |
Human | HLA-DQB1 | 3119 | | Title:Association of HLA class I and class II polymorphisms with age-related macular degeneration.|Association:Not Found|Conclusion:Significant positive and negative associations exist between HLA alleles and AMD. HLA polymorphisms influence the development of AMD, possibly via modulating choroidal immune function. |