Table 4.
Test for distortion of allele transmission to patients that have isolated cleft lip with or with cleft palate or isolated cleft palate only.
| SNPsa | Cleft lip with or without cleft palate | Cleft palate only | ||||
|---|---|---|---|---|---|---|
| Nb | T/NTc | RR (95% CI)d | Nb | T/NTc | RR (95% CI)d | |
| CLPTM1 | ||||||
| rs3786505 | 216 | 128/148 | 0.87 (0.68, 1.10) | 149 | 93/97 | 0.96 (0.72, 1.27) |
| rs204468 | 229 | 137/160 | 0.86 (0.68, 1.08) | 156 | 106/100 | 1.06 (0.81, 1.40) |
| rs7257610 | 35 | 14/21 | 0.67 (0.34, 1.31) | 30 | 17/15 | 1.13 (0.57, 2.27) |
| CRISPLD2 | ||||||
| rs12051468 | 224 | 158/133 | 1.19 (0.94, 1.50) | 157 | 106/93 | 1.14 (0.86, 1.51) |
| rs8061351 | 212 | 118/137 | 0.86 (0.67, 1.10) | 130 | 86/72 | 1.19 (0.87, 1.63) |
| rs721005 | 241 | 167/156 | 1.07 (0.86, 1.33) | 154 | 103/96 | 1.07 (0.81, 1.42) |
| rs1546124 | 244 | 149/169 | 0.88 (0.71, 1.10) | 131 | 88/81 | 1.09 (0.80, 1.47) |
| rs16974880 | 212 | 153/118 | 1.30 (1.02, 1.65) | 136 | 94/90 | 1.04 (0.78, 1.39) |
| rs4783099 | 221 | 159/131 | 1.21 (0.96, 1.53) | 150 | 108/91 | 1.19 (0.90, 1.57) |
| FGFR2 | ||||||
| rs1047100 | 203 | 124/125 | 0.99 (0.77, 1.27) | 121 | 66/74 | 0.89 (0.64, 1.24) |
| GABRB3 | ||||||
| rs2017247 | 193 | 124/123 | 1.01 (0.79, 1.29) | 148 | 87/96 | 0.91 (0.68, 1.21) |
| rs11637141 | 198 | 117/128 | 0.91 (0.71, 1.17) | 144 | 88/83 | 1.06 (0.79, 1.43) |
| GLI2 | ||||||
| rs12711538 | 213 | 132/125 | 1.06 (0.83, 1.35) | 142 | 93/90 | 1.03 (0.77, 1.38) |
| IRF6 | ||||||
| rs2235371 | 8 | 3/5 | 0.60 (0.14, 2.51) | 3 | 1/2 | 0.50 (0.05, 5.51) |
| rs2013162 | 236 | 128/171 | 0.75 (0.60, 0.94) | 130 | 100/75 | 1.33 (0.99, 1.80) |
| rs7552506 | 238 | 136/168 | 0.81 (0.65, 1.02) | 135 | 104/76 | 1.37 (1.02, 1.84) |
| rs2235377 | 8 | 2/6 | 0.33 (0.07, 1.65) | 3 | 2/1 | 2.00 (0.18, 22.06) |
| PTCH1 | ||||||
| rs2066836 | 161 | 89/100 | 0.89 (0.67, 1.18) | 120 | 78/66 | 1.18 (0.85, 1.64) |
| rs357564 | 258 | 167/167 | 1.00 (0.81, 1.24) | 165 | 111/106 | 1.05 (0.80, 1.37) |
| RARA | ||||||
| rs2229773 | 45 | 26/20 | 1.30 (0.73, 2.33) | 33 | 21/13 | 1.62 (0.81, 3.23) |
| RYK | ||||||
| rs1131262 | 135 | 69/77 | 0.90 (0.65, 1.24) | 78 | 45/47 | 0.96 (0.64, 1.44) |
| rs4470517 | 231 | 157/156 | 1.01 (0.81, 1.26) | 154 | 93/110 | 0.85 (0.64, 1.11) |
| SATB2 | ||||||
| rs4673313 | 119 | 68/63 | 1.08 (0.77, 1.52) | 76 | 41/43 | 0.95 (0.62, 1.46) |
| rs17199393 | 51 | 24/29 | 0.83 (0.48, 1.42) | 38 | 19/21 | 0.91 (0.49, 1.68) |
| rs16831366 | 81 | 42/43 | 0.98 (0.64, 1.49) | 60 | 28/34 | 0.82 (0.50, 1.36) |
| rs1446636 | 144 | 86/73 | 1.18 (0.86, 1.61) | 98 | 57/58 | 0.98 (0.68, 1.42) |
| rs4675475 | 171 | 105/99 | 1.06 (0.81, 1.40) | 112 | 69/71 | 0.97 (0.70, 1.35) |
| SUMO1 | ||||||
| rs3769817 | 133 | 82/77 | 1.07 (0.78, 1.45) | 102 | 65/53 | 1.23 (0.85, 1.76) |
| rs12470401 | 141 | 84/80 | 1.05 (0.77, 1.43) | 98 | 67/46 | 1.46 (1.00, 2.12) |
| TGFA | ||||||
| rs2166975 | 177 | 111/109 | 1.01 (0.78, 1.33) | 133 | 102/72 | 1.42 (1.05, 1.92)e |
a
SNPs – single nucleotide polymorphisms
b
N – number of informative trios
c
T/NT – transmission/non-transmission of minor allele
d
RR – risk ratio; CI – confidence interval
e
Significant difference in allele transmission, corrected P<0.05, after adjustment for multiple comparisons