Scholl, Hendrik P. N. and Weber, Bernhard H. F. and Nothen, M. M. and Wienker, T. and Holz, F. G. (2005) Y402H polymorphism in complement factor H and age-related macular degeneration (AMD). OPHTHALMOLOGE, 102 (11). 1029-+. ISSN 0941-293X, 1433-0423
Full text not available from this repository. (Request a copy)Abstract
Age-related macular degeneration is a complex genetic disorder. Recent data suggest that the additive genetic risk for late-stage disease is more than two-thirds. Comprehensive genetic studies (candidate gene approaches, linkage and association studies) have been performed in recent years to identity the genetic risk factors at the molecular lavel. Very recently, a significant risk allele, Y402H, has been discovered in the complement factor H (CFH) gene. The relative risk of developing AMD has been estimated between 2.4-4.6 for heterozygotes and 3.3-7.4 for homozygotes. This polymorphism accounts for approximately 20-50% of the overall risk of developing AMD. In this review the results from molecular genetic studies in AMD are summarized, with a special emphasis on the recent data obtained for the CFH gene.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | BEAVER DAM EYE; DYSTROPHY BEST-DISEASE; BLUE MOUNTAINS EYE; FAMILIAL AGGREGATION; SUSCEPTIBILITY LOCI; STARGARDT-DISEASE; GENOMEWIDE-SCAN; EXTENDED FAMILIES; ALLELIC VARIATION; APOLIPOPROTEIN-E; age-related macular degeneration; complement factor H; sequence variation; association studies |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 23 Apr 2021 12:28 |
| Last Modified: | 23 Apr 2021 12:28 |
| URI: | https://pred.uni-regensburg.de/id/eprint/35486 |
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