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. 2019 May 23;137(8):867–876. doi: 10.1001/jamaophthalmol.2019.1318

Table 3. Genome-Wide Significant and Suggestive Lead Variants Associated With Geographic Atrophy Lesion Growth.

Varianta Chr Position
(hg19)
Reference Allele Alternative Allele Alternative Allele Frequency Slope per Allele (95% CI)b P Value 95% of Credible Setc 99% of Credible Setc
AREDS FAM/
DSGA
GATE All Root
Transformed, mm/y
Inverse
Normal Transformed
rs11184959 1 107 213 976 G A 0.375 0.340 0.338 0.352 0.046 (0.026-
0.066)
0.246 (0.155-
0.338)
4.09 × 10−8 24 37
rs2839127 21 47 573 550 G A 0.115 0.159 0.174 0.145 0.059 (0.034-
0.085)
0.346 (0.221-
0.471)
1.0109 × 10−8 1 1
rs145146260d 11 90 194 708 CT C 0.079 0.046 0.096 0.070 0.105 (0.068-
0.143)
0.441 (0.270-
0.612)
4.0709 × 10−7 32 47

Abbreviations: AREDS, Age-Related Eye Disease Study; Chr, chromosome; DSGA, Directional Spread in Geographic Atrophy; FAM, Fundus Autofluorescence Imaging in Age-Related Macular Degeneration; GATE, Geographic Atrophy Treatment Evaluation.

a

Per dbSNP.

b

Adjusted for the number of geographic atrophy lesions, follow-up time, presence of bilateral geographic atrophy, and the first 2 principal components of ancestry.

c

Number of variants in the 95% or 99% credible set of association, containing the true variant with 95% or 99% probability, respectively.

d

Suggestive evidence for association (P < 1.00 × 10−6).