|?|| (C;C) (C;G) (G;G) ||28|
, a SNP upstream of the ERCC6
DNA repair gene, has been linked independently and in conjunction with another SNP (rs380390
) to age related macular degeneration
. On it's own, the odds ratios for increased risk for heterozygotes and homozygotes, were, respectively, 1.51 (CI 1.07-2.11) and 1.60 (CI 0.99-2.61). [PMID 16754848
In dbSNP orientation, individuals who are CFH gene SNP genotype rs380390(C;C) and are also rs3793784(G;G) for this (ERCC6) SNP are calculated to be at 23 fold higher risk for developing age related macular degeneration compared to individuals who are homozygous for the more common alleles (among Caucasians) at both loci (ie who are rs380390(G;G) and rs3793784(C;C).[PMID 16754848]
|Desc||EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6|
] The ERCC6 Gene and Age-Related Macular Degeneration
] Genetic markers and biomarkers for age-related macular degeneration.
[PMID 18789574] ERCC6/CSB gene polymorphisms and lung cancer risk.
|| Insufficiently evaluated pharmacogenetic