Candidate single-nucleotide polymorphisms (SNP; n = 9) associated with scleroderma renal crisis (SRC) in the discovery cohort (UK) and their association with SRC in the validation cohort (USA).
| ChromosomeSNP | Gene | UK Discovery Cohort | USA Validation Cohort | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BP | A1 | MAF | P, Unadjusted | GC | OR (95% CI) | A1 | MAF | P | OR (95% CI) | |||
| 1 | rs2093658 | POU2F1 | 167355192 | G | 0.490 | 7.37E-06 | 1.98E-05 | 0.24 (0.12–0.45) | G | 0.359 | 0.787 | 1.07 (0.65–1.76) |
| 2 | rs16849716 | HECW2 | 197195099 | G | 0.049 | 0.00012 | 0.0002512 | 6.11 (2.21–16.85) | G | 0.1977 | 0.962 | 1.02 (0.56–1.84) |
| 3 | rs11708596 | C3orf20 | 14689393 | A | 0.050 | 2.28E-05 | 5.53E-05 | 7.05(2.58–19.29) | A | 0.137 | 0.223 | 0.60 (0.26–1.37) |
| 3 | rs7643629 | IQCJ-SCHIP1 | 158778092 | G | 0.324 | 2.02E-05 | 4.96E-05 | 3.52 (1.95–6.35) | G | 0.471 | 0.728 | 0.918(0.568–1.485) |
| 3 | rs2118096 | Near to OTOL1 | 161525058 | C | 0.240 | 5.62E-05 | 0.0001257 | 3.455 (1.86–6.38) | C | 0.368 | 0.598 | 0.87 (0.53–1.45) |
| 4 | rs10008833 | Near to EPHA5 | 66136223 | G | 0.133 | 2.05E-05 | 5.02E-05 | 4.437 (2.17–9.06) | G | 0.168 | 0.078 | 1.66 (0.94–2.92) |
| 5 | rs1859082 | CTNND2 | 11372743 | G | 0.272 | 5.58E-05 | 0.000125 | 3.599 (1.9–6.78) | G | 0.423 | 0.9714 | 0.99 (0.61–1.62) |
| 6 | rs2327835 | LOC101928354 | 14570894 | A | 0.080 | 7.14E-05 | 0.0001563 | 4.987 (2.14–11.57) | A | 0.177 | 0.258 | 1.40 (0.78–2.50) |
| 14 | rs935332 | GPATCH2L | 76699590 | C | 0.059 | 4.92E-05 | 0.0001114 | 6.11 (2.38–15.67) | C | 0.184 | 0.025 | 1.86 (1.08–3.20) |
A1: minor allele (in controls); BP: base pair position; GC: genomic-control corrected P values; MAF: minor allele frequency in controls; SNP: single-nucleotide polymorphism.