DO: 0110028;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 10q11.23 | {Macular degeneration, age-related, susceptibility to, 5} | 613761 | 3 | ERCC6 | 609413 |
A number sign (#) is used with this entry because of evidence that susceptibility to age-related macular degeneration-5 (ARMD5) is conferred by heterozygous mutation in the ERCC6 gene (609413) on chromosome 10q11.
For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075.
In a cohort of 460 advanced cases of age-related macular degeneration and 269 age-matched controls and 57 archived ARMD cases and 18 age-matched non-ARMD controls, Tuo et al. (2006) found that a -6530C-G SNP (609413.0010; rs3793784) in the ERCC6 gene was associated with ARMD susceptibility, both independently and through interaction with an intronic SNP in the CFH gene (see 134370.0008; rs380390) previously reported to be highly associated with ARMD.
Tuo, J., Ning, B., Bojanowski, C. M., Lin, Z.-N., Ross, R. J., Reed, G. F., Shen, D., Jiao, X., Zhou, M., Chew, E. Y., Kadlubar, F. F., Chan, C.-C. Synergic effect of polymorphisms in ERCC6 5-prime flanking region and complement factor H on age-related macular degeneration predisposition. Proc. Nat. Acad. Sci. 103: 9256-9261, 2006. [PubMed: 16754848] [Full Text: https://doi.org/10.1073/pnas.0603485103]