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[Preprint]. 2025 Mar 20:2025.03.18.25324218. [Version 1] doi: 10.1101/2025.03.18.25324218

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.