Table 3.
Previous published OFC-associated SNPs with evidence of replication in the current study
| Previous study |
Current study |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Locus (hg38) | Alleles | Effect allelea | OR (95% CI) | Trait | PubMed ID | CP OR (95% CI) | CP p value | CSP OR (95% CI) | CSP p value | CHP OR (95% CI) | CHP p value |
| rs12065278 | 1p36.11 | A/G | G | 2.43 (1.66–3.56) | CP | 27018472 | 1.18 (0.92–1.52) | 2.00E−01 | 1.22 (0.89–1.67) | 2.25E−01 | 1.63 (1.04–2.57) | 3.25E−02 |
| rs481931 | 1p22.1 | G/T | G | 1.25 | CLP | 28232668 | 1.25 (1.01–1.54) | 3.96E−02 | 1.22 (0.93–1.61) | 1.61E−01 | 1.08 (0.70–1.61) | 7.51E−01 |
| rs4839542 | 1p13.3 | C/T | C | 0.83 | CLP | 28232668 | 1.23 (0.95–1.59) | 1.14E−01 | 1.22 (0.88–1.72) | 2.33E−01 | 1.96 (1.20–3.12) | 5.27E−03 |
| rs2235371 | 1q32.2 | C/T | T | 1.49 (1.37–1.61) | CL/P | 25775280 | N/A | N/A | 1.38 (1.0–1.89) | 4.60E−02 | 1.53 (1.0–2.33) | 4.64E−02 |
| rs6540559 | 1q32.2 | G/A | A | 1.67 (1.47–1.85) | CL/P | 28054174 | 1.24 (1.01–1.52) | 3.57E−02 | 1.30 (1.0–1.70) | 5.11E−02 | 1.48 (0.99–2.2) | 5.62E−02 |
| rs75477785 | 1q32.2 | T/G | G | 1.75 (1.54–2.04) | CL/P | 28054174 | N/A | N/A | 1.38 (1.0–1.9) | 5.16E−02 | 1.61 (1.04–2.48) | 3.10E−02 |
| rs72741048 | 1q32.2 | A/T | T | 1.31 | CP | 31609978 | 1.35 (1.09–1.66) | 5.58E−03 | 1.28 (0.97–1.67) | 7.55E−02 | 1.67 (1.15–2.44) | 6.85E−03 |
| rs11119394 | 1q32.2 | A/G | G | 1.30 | CP | 32758111 | N/A | N/A | 1.48 (1.09–2.01) | 1.16E−02 | 1.46 (0.98–2.18) | 5.87E−02 |
| rs3815854 | 2q35 | C/T | C | 0.80 (0.74–0.87) | CL/P | 25775280 | 1.25 (1.03–1.52) | 2.45E−02 | 1.35 (1.06–1.72) | 1.38E−02 | 1.19 (0.83–1.72) | 3.53E−01 |
| rs9347594 | 6q26 | T/C | T | 2.22 (1.60–3.08) | CP | 27018472 | N/A | N/A | 1.11 (0.83–1.47) | 4.77E−01 | 1.49 (1.0–2.22) | 4.77E−02 |
| rs11774066 | 8q22.2 | C/T | C | 0.86 | CLP | 28232668 | 1.28 (1.03–1.61) | 2.44E−02 | 1.16 (0.87–1.54) | 3.07E−01 | 1.09 (0.741.59) | 6.92E−01 |
| rs1487022 | 8q22.2 | G/T | G | 1.17 | CLP | 28232668 | 1.45 (1.16–1.85) | 1.36E−03 | 1.47 (1.08–2.0) | 1.58E−02 | 1.14 (0.76–1.72) | 5.27E−01 |
| rs4246129 | 8q24.3 | C/G | G | 2 (1.47–2.63) | CP | 28054174 | 1.28 (1.03–1.61) | 2.75E−02 | 1.47 (1.1–1.97) | 8.65E−03 | 1.16 (0.77–1.74) | 4.73E−01 |
| rs7928246 | 11q22.3 | A/G | A | 0.41 | CP | 32758111 | 1.77 (1.05–2.99) | 2.95E−02 | 2.18 (1.07–4.45) | 2.80E−02 | N/A | N/A |
| rs730643 | 14q13.3 | G/A | A | 1.35 | CP | 31609978 | 1.34 (1.09–1.66) | 5.85E−03 | 1.38 (1.05–1.82) | 2.18E−02 | 1.60 (1.05–2.44) | 2.77E−02 |
| rs4901118 | 14q22.1 | G/A | Gb | N/R | CL/P | 28087736 | 1.41 (1.16–1.72) | 4.57E−04 | 1.45 (1.12–1.89) | 4.04E−03 | 1.19 (0.84–1.69) | 3.29E−01 |
| rs152745 | 16p12.2 | G/A | G | 0.46 (0.33–0.64) | CP | 27018472 | N/A | N/A | 1.19 (0.88–1.59) | 2.57E−01 | 1.61 (1.04–2.50) | 2.91E−02 |
| rs57933945 | 16p12.1 | C/T | C | 2.86 (1.85–4.35) | CP | 28054174 | 1.92 (1.32–2.86) | 6.25E−04 | 2.5 (1.45–4.35) | 6.70E−04 | 2.22 (1.04–4.55) | 3.39E−02 |
| rs9911652 | 17p13.1 | C/T | C | 0.64 (0.55–0.74) | CL/P | 28054174 | 1.33 (1.01–1.75) | 3.94E−02 | 1.3 (0.92–1.85) | 1.35E−01 | 1.37 (0.85–2.17) | 1.92E−01 |
| rs3785888 | 17q21.32 | C/T | T | 0.88 (0.58–0.97) | CL/P | 28054174 | 1.28 (1.06–1.55) | 9.13E−03 | 1.19 (0.93–1.51) | 1.59E−01 | 1.08 (0.76–1.53) | 6.60E−01 |
| rs1838105 | 17q21.32 | A/G | G | 0.82 | CLP | 28232668 | 1.44 (1.18–1.75) | 2.40E−04 | 1.34 (1.05–1.72) | 2.00E−02 | 1.32 (0.9–1.93) | 1.51E−01 |
| rs227731 | 17q22 | T/G | G | 0.81 (0.72–0.89) | CL/P | 28054174 | 1.30 (1.06–1.59) | 1.07E−02 | 1.27 (0.97–1.64) | 8.24E−02 | 1.59 (1.08–2.33) | 1.77E−02 |
Bold indicates p < 0.05.
N/A indicates absence of data at this SNP location in the CPSeq data.
N/R indicates absence of data from original publication.
a
Effect allele is reported for CPSeq data: underlines indicate opposite effect reported in original publication.
b
Effect allele for original publication is not reported.