Table 2.
Analysis | Locus | CHR | BP | SNP | Minor Allele |
Major Allele |
P1 | POFC TDT OR [95%CI] |
GENEVA TDT OR [95%CI] |
POFC CC OR [95%CI] |
---|---|---|---|---|---|---|---|---|---|---|
CL/P | 8q24 | 8 | 129976136 | rs55658222 | A | G | 8.30E-44 | 2.08 [1.77–2.44] | 2.13 [1.78–2.54] | 1.91 [1.59–2.29] |
1q32 | 1 | 209984470 | rs75477785 | G | T | 4.16E-29 | 0.58 [0.49–0.69] | 0.57 [0.49–0.65] | 0.56 [0.45–0.69] | |
17p13 | 17 | 8947708 | rs12944377 | C | T | 8.32E-21 | 0.73 [0.65–0.82] | 0.66 [0.58–0.74] | 0.73 [0.63–0.85] | |
1p22 | 1 | 94558110 | rs66515264 | T | G | 4.14E-17 | 1.49 [1.3–1.71] | 1.506 [1.31–1.73] | 1.32 [1.12–1.56] | |
1p36 | 1 | 18972776 | rs9439713 | A | G | 6.02E-13 | 1.33 [1.17–1.51] | 1.481 [1.27–1.73] | 1.34 [1.16–1.56] | |
20q12 | 20 | 39261054 | rs6072081 | G | A | 1.87E-12 | 0.88 [0.79–0.98] | 0.70 [0.63–0.78] | 0.77 [0.67–0.88] | |
8q21 | 8 | 88868340 | rs12543318 | C | A | 8.75E-12 | 1.3 [1.18–1.46] | 1.30 [1.17–1.45] | 1.16 [1.02–1.33] | |
10q25 | 10 | 118846294 | rs10886040 | G | C | 8.82E-11 | 1.35 [1.18–1.53] | 1.31 [1.17–1.46] | 1.21 [1.03–1.42] | |
13q31 | 13 | 80679302 | rs11841646 | A | T | 3.62E-10 | 1.29 [1.15–1.45] | 1.33 [1.17–1.50] | 1.21 [1.05–1.39] | |
17q22 | 17 | 54773238 | rs227731 | G | T | 1.77E-09 | 1.22 [1.09–1.36] | 1.24 [1.12–1.38] | 1.28 [1.12–1.47] | |
2p24 | 2 | 16729357 | rs7566780 | G | A | 4.28E-09 | 1.35 [1.20–1.51] | 1.20 [1.08–1.34] | 1.17 [1.02–1.34] | |
3q28 | 3 | 189553372 | rs76479869 | T | C | 1.16E-08 | 1.38 [1.08–1.75] | 1.79 [1.41–2.29] | 1.58 [1.18–2.13] | |
15q24 | 15 | 74889163 | rs11072494 | T | C | 2.40E-08 | 0.80 [0.71–0.91] | 0.84 [0.75–0.95] | 0.73 [0.63–0.85] | |
3q12 | 3 | 99691522 | rs68092024 | C | T | 5.24E-08 | 0.82 [0.73–0.92] | 0.74 [0.66–0.84] | 0.89 [0.77–1.03] | |
4q21 | 4 | 77549559 | rs6838801 | T | G | 5.63E-08 | 1.18 [1.05–1.32] | 1.24 [1.11–1.38] | 1.28 [1.11–1.48] | |
12q13 | 12 | 53357335 | rs2363632 | G | T | 1.51E-07 | 0.829 [0.71–0.96] | 0.73 [0.64–0.84] | 0.79 [0.66–0.96] | |
5q13 | 5 | 67483732 | rs6449957 | C | T | 1.54E-07 | 0.79 [0.71–0.89] | 0.85 [0.76–0.95] | 0.82 [0.72–0.94] | |
8q12 | 8 | 32333570 | rs1878918 | C | G | 2.72E-07 | 1.15 [1.03–1.28] | 1.29 [1.15–1.45] | 1.20 [1.05–1.37] | |
17q21 | 17 | 45005703 | rs3785888 | C | T | 4.01E-07 | 1.16 [1.04–1.29] | 1.14 [1.03–1.27] | 1.36 [1.19–1.55] | |
CP | 1p36 | 1 | 24669457 | rs41268753 | T | C | 7.73E-08 | 2.0 [0.75–5.39] | 2.40 [1.15–5.02] | 6.34 [3.31–12.17] |
5p13 | 5 | 36048396 | rs1287275 | T | C | 7.79E-06 | 1.31 [0.68–2.51] | 2.0 [1.28–3.12] | 3.09 [1.82–5.22] | |
All Clefts | 8q24 | 8 | 129964873 | rs17242358 | A | G | 6.21E-37 | 1.93 [1.67–2.24] | 1.82 [1.55–2.12] | 1.71 [1.43–2.03] |
1q32 | 1 | 209992501 | rs1109430 | A | G | 9.56E-22 | 0.62 [0.56–0.72] | 0.67 [0.59–0.76] | 0.60 [0.49–0.75] | |
17p13 | 17 | 8947708 | rs12944377 | C | T | 1.11E-16 | 0.76 [0.68–0.84] | 0.74 [0.67–0.82] | 0.75 [0.65–0.87] | |
1p22 | 1 | 94558110 | rs66515264 | T | G | 6.14E-15 | 1.44 [1.26–1.64] | 1.40 [1.24–1.59] | 1.26 [1.07–1.48] | |
20q12 | 20 | 39261054 | rs6072081 | G | A | 9.17E-13 | 0.88 [0.79–0.97] | 0.74 [0.68–0.81] | 0.78 [0.68–0.89] | |
8q21 | 8 | 88868340 | rs12543318 | C | A | 7.61E-11 | 1.28 [1.15–1.41] | 1.26 [1.15–1.38] | 1.13 [0.99–1.29] | |
10q25 | 10 | 118846294 | rs10886040 | G | C | 8.05E-11 | 1.34 [1.18–.51] | 1.26 [1.14–1.39] | 1.19 [1.03–1.39] | |
1p36 | 1 | 18972776 | rs9439713 | A | G | 3.73E-10 | 1.27 [1.13–1.44] | 1.30 [1.14–1.49] | 1.30 [1.13–1.50] | |
9q22 | 9 | 100619719 | rs12347191 | C | T | 1.33E-09 | 0.80 [0.72–0.90] | 0.78 [0.69–0.88] | 0.80 [0.70–0.92] | |
2p24 | 2 | 16729357 | rs7566780 | G | A | 1.25E-08 | 1.30 [1.17–1.45] | 1.18 [1.07–1.29] | 1.16 [1.02–1.32] | |
13q31 | 13 | 80679302 | rs11841646 | A | T | 3.39E-08 | 1.29 [1.15–1.44] | 1.19 [1.07–1.33] | 1.17 [1.02–1.34] | |
17q21 | 17 | 45019731 | rs6504622 | C | T | 1.13E-07 | 0.88 [0.79–0.97] | 0.86[0.78–0.94] | 0.76 [0.67–0.86] | |
8q12 | 8 | 32380835 | rs10088648 | A | T | 1.34E-07 | 0.85 [0.76–0.94] | 0.82 [0.74–0.91] | 0.83 [0.73–0.95] | |
3q28 | 3 | 189553372 | rs76479869 | T | C | 3.20E-07 | 1.33 [1.05–1.67] | 1.56 [1.27–1.93] | 1.52 [1.14–2.02] |
Genome-wide significant SNPs are in bold (based on the Bonferroni-corrected genome-wide significant p-value (p < 5 × 10−8))