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. 2024 Jan 17;7:107. doi: 10.1038/s42003-023-05743-9

Table 4.

Cross-significance of top SNPs for retinal pathology characterized by pre-retinal neovascular disease including ROP and diabetic retinopathy (GOLDR).

Gene SNP Chr position GOLDR ROP
odds ratio P-value Odds ratio P-value P-value Hispanic LD relative to bolded SNP (r2)
GLI3 rs74527981 7 42205730 2.22 9.3E-04 Na Na 0.068 0.0006
rs17172024 7 42210112 2.22 9.3E-04 Na Na 0.15 0.0006
rs2058019 7 42187113 ns Ns 1.27 4.90E-09 2.95E-06 -
CLDN12 No loci associated with DR for whole region
DEF8, TUBB3 No loci associated with DR for whole region
DCLK1 rs35596426 13 36452952 5.18 4.3E-04 Na Na Na 0.007
rs9576059 13 36452266 4.83 5.9E-04 Na Na Na 0.007
rs61948265 13 35984893 ns Ns 1.14 6.50E-07 4.64E-05 -
SP4 rs11770747 7 21552122 1.96 7.6E-04 Ns Ns 0.20 0.02
rs78539005 7 21547126 2.51 8.5E-04 1.09 0.03 0.18 0.002
rs141411503 7 21425951 ns Ns 1.21 8.38E-07 3.55E-04 -
ARHGEF7 No loci associated with DR for whole region
PTPRD rs79715438 9 8809579 3.48 5.0E-04 Na Na Na 0.02
rs75240118 9 8809921 3.48 5.0E-04 Na Na Na 0.02
rs80041124 9 8810631 3.48 5.0E-04 Na Na Na 0.02
rs76777639 9 8488087 3.30 9.6E-04 Na Na Na 0.0001
rs529032346 9 8499029 3.30 9.6E-04 Na Na Na 0
rs9644892 9 8800078 ns Ns 1.1 2.14E-06 2.86E-05 -
DPP4 No loci associated with DR for whole region
RPL30, RIDA rs2514337 8 98113613 0.49 5.4E-04 0.94 4.4E-04 0.22 0.33
rs2447504 8 98113678 0.49 5.4E-04 0.94 4.4E-04 0.22 0.33
rs2306129 8 98093498 0.66 0.04 1.09 3.77E-06 0.0078 -
PRPF4B No loci associated with DR for whole region

Bolded SNP identifiers indicate the SNP used for comparison for the LD calculation.

ns not significant, na association tests not applicable for SNPs with MAF less than 0.05, LD linkage disequilibrium.