Table 2.
Exome-wide significant signals for diabetic kidney disease identified in meta-analyses of stage-1 and -2 analyses
| Chr:Pos (hg19) | HGNC Symbol | rsID | Alt/Ref | Variant Type | Phase | MAC | DKD Cases vs. Healthy Controls | DKD Cases vs. Diabetes Controls | DKD Cases vs. CKD Controls | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OR | (95% CI) | P | OR | (95% CI) | P | OR | (95% CI) | P | |||||||
| Multi-ancestry analysis | |||||||||||||||
| 2:233208123 | DIS3L2 | rs141560952 | AGGG/A | Inframe insertion | Stage 1 | 11 | 6569 | (185.5232588) | 1.36E-06 | 34.99 | (4.33282.9) | 8.57E-04 | 88.83 | (8.34945.7) | 2.01E-04 |
| Stage 2 | 26 | 63.23 | (8.53469.0) | 1.13E-03 | 6.02 | (1.24,29.35) | 2.63E-02 | 25.25 | (3.92162.8) | 6.82E-04 | |||||
| Meta-analysis | - | 192.6 | (33.581105) | 3.59E-09 | 11.44 | (3.24,40.43) | 1.54E-04 | 40.88 | (9.46176.7) | 6.73E-07 | |||||
| European-ancestry analysis | |||||||||||||||
| 2:233208123 | DIS3L2 | rs141560952 | AGGG/A | Inframe insertion | Stage 1 | 11 | 641.4 | (33.1912396) | 1.89E-05 | 21.28 | (3.1145.9) | 1.85E-03 | 23.87 | (3.31172.2) | 1.65E-03 |
| Stage 2 | 25 | 44.69 | (6.35314.4) | 1.38E-03 | 4.51 | (0.92,22.22) | 6.40E-02 | 34.2 | (4.99234.5) | 1.27E-03 | |||||
| Meta-analysis | - | 100.1 | (19.62510.4) | 3.01E-08 | 8.48 | (2.48,28.95) | 6.44E-04 | 28.71 | (7.23114.0) | 1.82E-06 | |||||
| 12:52843534 | KRT6B | rs425827 | A/T | Splice region | Stage 1 | 108 | 5.55 | (3.11,9.88) | 6.10E-09 | 2.98 | (1.58,5.61) | 7.24E-04 | 3.89 | (2.2,6.88) | 2.80E-06 |
| Stage 2 | 32 | 3.47 | (0.57,21.35) | 0.18 | 6.09 | (0.52,71.37) | 0.15 | 4.27 | (0.63,29.11) | 0.14 | |||||
| Meta-analysis | - | 5.31 | (3.06,9.21) | 2.72E-09 | 3.11 | (1.69,5.75) | 2.81E-04 | 3.92 | (2.27,6.77) | 8.97E-07 | |||||
Abbreviations: AAF, alternative allele frequency; Alt, alternative; Chr, chromosome; CI, confidence interval; CKD, chronic kidney disease; DKD, diabetic kidney disease; OR, odds ratio; P, P-value; Ref, reference.