Table 2.
Genome-wide significant loci in the multi-ancestry meta-analysis of dry eye disease (DED).
rsID | Chr:Pos | Nearest Gene | EA/NEA | EAF | N case | N | OR [L95, U95] | P-value | Effect Direction | I 2 | Het. P-value |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4682749 | 3:44,697,023 | ZNF502 | G/C | 0.39 | 132,637 | 484,838 | 0.97 [0.96, 0.98] | 9.95 × 10−9 | −−−+ | 28.1 | 0.24 |
rs13107325 | 4:102,267,552 | SLC39A8 | T/C | 0.08 | 131,118 | 479,545 | 1.07 [1.04, 1.09] | 1.24 × 10−10 | +++? | 0.0 | 0.90 |
rs2411044 | 5:107,737,792 | EFNA5 | A/G | 0.17 | 132,637 | 484,838 | 0.96 [0.95, 0.98] | 2.77 × 10−8 | −−−− | 0.0 | 0.68 |
rs7731539 | 5:153,732,101 | GRIA1 | G/C | 0.48 | 132,637 | 484,838 | 0.97 [0.96, 0.98] | 2.84 × 10−8 | −−−− | 22.0 | 0.28 |
rs34025038 | 5:153,801,313 | GRIA1 | T/C | 0.12 | 132,637 | 484,838 | 1.05 [1.03, 1.06] | 9.81 × 10−9 | ++++ | 0.0 | 0.75 |
rs191549504 | 6:33,443,896 | SYNGAP1 | C/T | 0.01 | 88,963 | 350,965 | 1.16 [1.11, 1.21] | 4.18 × 10−10 | +??− | 0.0 | 0.50 |
rs2618471 | 8:11,501,511 | BLK | G/C | 0.35 | 132,637 | 484,838 | 1.03 [1.02, 1.04] | 2.91 × 10−8 | +++− | 0.0 | 0.45 |
rs12779865 | 10:21,540,233 | MLLT10 | C/T | 0.31 | 132,637 | 484,838 | 1.04 [1.03, 1.05] | 1.58 × 10−13 | +++− | 35.2 | 0.20 |
rs77465292 | 11:47,586,360 | FAM180B | C/T | 0.13 | 132,637 | 484,838 | 0.96 [0.94, 0.97] | 6.30 × 10−9 | −−−+ | 65.8 | 0.03 |
rs2872878 | 19:19,369,712 | GATAD2A | C/G | 0.59 | 132,637 | 484,838 | 0.97 [0.96, 0.98] | 4.77 × 10−9 | −−−− | 0.0 | 0.65 |
We identified 10 independent loci within 9 susceptibility regions, all of which were novel with respect to DED. Genomic coordinates correspond to the GRCh38 assembly. Ancestry-stratified summary statistics for each locus are provided in Table S6. Chr: chromosome; Pos: position; EA: effect allele; NEA: non-effect allele; EAF: effect allele frequency; N: sample size; OR [L95, U95]: odds ratio with lower and upper bounds of the 95% confidence interval; Effect Direction: SNP effect direction in the EUR, AFR, AMR, and EAS cohorts, respectively (“?” indicates the variant did not meet the allele frequency cutoff of 0.1% in that ancestry and was not included in the meta-analysis); I2: percentage of variation due to heterogeneity; Het. P-value: p-value of the Cochran’s Q heterogeneity test.