Table 1.
Risk of Age-Related Macular Degeneration for ERCC6 c.-6530C>G Genotypes in Two Non-European Study Populations.
Table 2.
Risk of Age-Related Macular Degeneration for ERCC6 c.-6530C>G Genotypes in all Study Populations Combined (Rotterdam, Amsterdam, Columbia University and AREDS).
Figure 1.
Linkage disequilibrium (LD) display in Haploview of SNPs encompassing the ERCC6 gene.
SNP selection was based on criteria like functional relevance, minor allele frequency (MAF)>10%, coverage of the main linkage disequilibrium (LD) blocks and tagging of the most common haplotypes. Tag SNPs were selected by use of Tagger, an option of Haploview [1] (all SNPs were captured with a LD tagging criteria of r2>0.8). Figure 1 displays the 5 distinct haplotype blocks and all SNPs that were tested in the AMRO-NL study population (A). LD scores (D' and R2) between markers genotyped. Note D' above the diagonal and R2 scores below the diagonal (B).
Figure 2.
ERCC6 expression levels in relation to genotype and disease status.
Mean ERCC6 expression level in human donor eyes in relation to rs3793784 genotype (C/C, N = 8; C/G, N = 11and G/G, N = 4). (A). Mean ERCC6 expression level in human donor eyes in relation to “status” = (old) healthy or early AMD (N = 14 donor eyes with early AMD and 9 old healthy donor eyes) (B). Quantitative RT-PCR analysis, normalized to the geometric mean of three housekeeping genes (RPLP0, PPIA, and EEF1a1) [46], [47]. Two way ANOVA was used to test the independent effect of status and genotype on the mean expression, as well as the interaction between these variables. Abbreviations: AMD = age-related macular degeneration.