Replication results for variants with nominal significance (P < 0.05) in the combined (Hispanic, African American, and European cohorts) replication meta-analyses
| Discovery population/LT modeling | RSID | Nearest gene | REF* | Disc EAF | Disc OR | Disc P | All rep OR | All rep P | Disc + rep OR | Disc + rep P |
|---|---|---|---|---|---|---|---|---|---|---|
| Variants identified in the any DR discovery analysis | ||||||||||
| European (Sens)/no | rs1394919 | PPEF2/NAAA | C | 0.72 | 0.73 | 8.51 × 10−6 | 0.91 | 0.003 | 0.88 | 6.35 × 10−6 |
| AA (Sens)/no | rs75360147 | SLC28A3 | T | 0.93 | 2.08 | 7.07 × 10−6 | 2.65 | 0.009 | 2.17 | 2.29 × 10−7 |
| European/no | rs1508244 | HTR1E | A | 0.98 | 0.33 | 3.74 × 10−6 | 0.92 | 0.01 | 0.90 | 0.002 |
| ME/no | rs10432638 | UBXN2A | C | 0.73 | 0.78 | 2.60 × 10−6 | 0.93 | 0.01 | 0.89 | 7.74 × 10−6 |
| EU/no | rs150775408 | BC031225 | C | 0.95 | 1.97 | 7.24 × 10−6 | 1.27 | 0.04 | 1.46 | 2.54 × 10−5 |
| AA/yes | rs143894698 | GCM1 | G | 0.98 | 3.14 | 4.62 × 10−6 | 1.45 | 0.004 | 1.58 | 2.53 × 10−5 |
| European/yes | rs13006587 | ATAD2B | G | 0.58 | 0.79 | 7.52 × 10−6 | 0.93 | 0.006 | 0.92 | 4.74 × 10−5 |
| European/yes | rs73642012 | PTPRD | C | 0.91 | 0.67 | 9.58 × 10−6 | 0.90 | 0.02 | 0.87 | 8.67 × 10−5 |
| Variants identified in the PDR discovery analysis | ||||||||||
| Europeans/no | rs139921826 | PRSS35 | G | 0.98 | 0.33 | 7.92 × 10−6 | 0.66 | 0.03 | 0.62 | 0.0008 |
| AA/yes | rs1414474 | C1orf94 | C | 0.14 | 1.62 | 1.46 × 10−7 | 1.12 | 0.01 | 1.19 | 1.90 × 10−5 |
| AA/yes | rs9998354 | BTF3P13 | T | 0.44 | 0.73 | 8.74 × 10−6 | 0.92 | 0.04 | 0.87 | 0.0001 |
| European/yes | rs142293996 | NVL | C | 0.99 | 1.83 | 1.14 × 10−6 | 2.40 | 0.04 | 2.29 | 0.0001 |
| Variants identified in the NPDR discovery analysis | ||||||||||
| European/no | rs1508244 | RN7SL643P | A | 0.98 | 0.32 | 8.13 × 10−6 | 0.89 | 0.005 | 0.87 | 0.0005 |
| European/no | rs7944308 | KCNA4 | G | 0.42 | 0.71 | 7.76 × 10−7 | 0.94 | 0.02 | 0.90 | 5.80 × 10−5 |
| Variants identified in the extremes of DR discovery analysis | ||||||||||
| AA/no | rs74161190 | TCERG1L | A | 0.94 | 0.32 | 4.57 × 10−6 | 0.40 | 0.03 | 0.32 | 7.16 × 10−7 |
| European/yes | rs17706958 | PDZRN3 | T | 0.76 | 1.58 | 3.04 × 10−8 | 1.28 | 0.02 | 1.39 | 7.41 × 10−8 |
| European/yes | rs10932347 | CPS1 | A | 0.04 | 0.33 | 4.22 × 10−7 | 0.64 | 0.02 | 0.55 | 1.30 × 10−5 |
| AA/yes | rs2690028 | KAZN | C | 0.32 | 0.62 | 4.52 × 10−6 | 0.80 | 0.03 | 0.74 | 1.72 × 10−5 |
| European/yes | rs116972715 | DSC3 | C | 0.99 | 2.60 | 2.48 × 10−6 | 3.62 | 0.03 | 3.29 | 1.59 × 10−5 |
| European/yes | rs75167957 | CTNNA2 | C | 0.99 | 3.26 | 3.36 × 10−6 | 9.77 | 0.04 | 6.34 | 5.83 × 10−6 |
| AA/yes | rs6577631 | LOC339862 | G | 0.86 | 0.53 | 3.45 × 10−6 | 0.89 | 0.04 | 0.84 | 0.0006 |
AA, African American; All rep, all replication cohorts; Disc, discovery; ME, multiethnic; REF, reference allele; Rep, replication; Sens, sensitivity analysis.
*For insertion-deletions, the reference allele is shown first followed by the alternate allele.