| Name |
402H
|
| Type |
SNP
|
| Species |
Homo sapiens
|
| Tissue |
retinal tissue,host tissues
|
| Experiment Method |
qPCR
|
| Up/Down |
NA
|
| Pro/Anti |
Pro
|
| Funtion Description |
We propose that the impaired binding of the 402H variant to Bruch's membrane results in an overactivation of the complement pathway leading to local chronic inflammation and thus contributes directly to the development and/or progression of AMD.
|
| Regulation Gene |
CFH
|
| Year |
2010
|
| Pubmed ID |
20660596
|
| Title |
Impaired Binding of the Age-related Macular Degeneration-associated Complement Factor H 402H Allotype to Bruch's Membrane in Human Retina
|
| Drug |
NA
|
| Disease |
AMD
|
| Environment Factors |
NA
|
| Circulating |
NA
|
| Variant |
snp
|
| High-throughput |
NA
|