Table 3.
Single-variant association analyses for the eight established AMD independently associated variants at the CFH locus with concentrations of FH, FHL-1, and FHR-1 to FHR-5 in control individuals
|
Association with protein concentrations in 252 Cambridge AMD study26,27control individualsa |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
|
FH |
FHL-1 |
FHR-1 |
FHR-2 |
FHR-3 |
FHR-4 |
FHR-5 |
||||
|
IAMDGC2association signal number (directionb) |
dbSNP ID (Chr: position)c;major/minor allele (imputation R2)d | IAMDGC OR (MAF in controls) | MAF, Cambridge controls | Beta (SE); p | Beta (SE); p | Beta (SE); p | Beta (SE); p | Beta (SE); p | Beta (SE); p | Beta (SE); p |
| 1.1 (−) | rs10922109 (1: 196704632); C/A (1.00) | 0.38 (0.426) | 0.422 | 0.49 (0.25), 0.056 | −0.10 (0.02); 3.7 × 10−5 | −10.67 (1.04); 7.8 × 10−21 | −0.75 (0.11); 2.9 × 10−11 | −1.20 (0.14); 1.7 × 10−16 | −1.0 (0.17); 1.5 × 10−9 | −0.04 (0.03); 0.184 |
| 1.2 (+) | rs570618 (1: 196657064); G/T (1.00) | 2.38 (0.364) | 0.357 | 0.27 (0.26); 0.296 | 0.05 (0.03); 0.046 | 8.19 (1.17); 2.0 × 10−11 | 0.85 (0.11); 1.8 × 10−12 | 0.16 (0.16); 0.304 | 0.62 (0.18); 6.8 × 10−4 | 0.10 (0.03); 7.8 × 10−4 |
| 1.3 (+) | rs121913059 (1: 196716375); C/T (genotyped) | 20.28 (0.00014) | 0 | no control carrier observed; not analyzed | ||||||
| 1.4 (−) | rs148553336 (1: 196613173); T/C (genotyped) | 0.29 (0.009) | 0.017 | −2.29 (1.02); 0.025 | −0.09 (0.10); 0.353 | 0.06 (5.00); 0.990 | −1.99 (0.48); 4.6 × 10−5 | 0.33 (0.62); 0.603 | 0.74 (0.72); 0.302 | −0.55 (0.11); 6.3 × 10−7 |
| 1.5 (+) | rs187328863 (1: 196380158); C/T (0.83) | 2.27 (0.028) | 0.013 | 1.12 (1.34); 0.404 | 0.06 (0.13); 0.660 | 0.75 (6.52); 0.908 | 1.13 (0.64); 0.080 | −0.51 (0.81); 0.536 | 0.61 (0.94); 0.515 | 0.01 (0.15); 0.956 |
| 1.6 (−) | rs61818925 (1: 196815450); G/T (0.87) | 0.60 (0.385) | 0.405 | −0.42 (0.27); 0.124 | 0.001 (0.03); 0.962 | 0.99 (1.33); 0.459 | −0.93 (0.12); 1.3 × 10−13 | 0.85 (0.16); 1.7 × 10−7 | −1.12 (0.18); 1.5 × 10−9 | −0.07 (0.03); 0.014 |
| 1.7 (+) | rs35292876 (1: 196706642); C/T (genotyped) | 2.42 (0.009) | 0.004 | MAF ≤ 1%; not analyzed | ||||||
| 1.8 (+) | rs191281603 (1: 196958651); C/G (0.42) | 1.07 (0.006) | 0.008 | MAF ≤ 1%; not analyzed | ||||||
Abbreviations are as follows: AMD = age-related macular degeneration; IAMDGC = International Age-Related Macular Degeneration Genomics Consortium; and MAF = minor-allele frequency.
Wald tests using linear-regression models adjusted for sex, age, and the first two genetic principal components as estimated within the IAMDGC study.2
Direction of association with AMD for the minor allele, as estimated in the IAMDGC study.2
Chromosomal position is given according to the NCBI RefSeq hg19 human genome reference assembly.
Imputation quality metric R2 as estimated in the IAMDGC study.2