Table 2. SNPs showing significance in stratified analysis among the three anatomical types of orofacial clefts: NSCLP, NSCLO and NSCPO in Chinese population.
Phenotype | Loci | SNP | BP (hg19) | Allele | F_A | F_U | P* | OR |
---|---|---|---|---|---|---|---|---|
NSCLP versus NSCLO | 1q32.2 | rs861020 | 209977111 | A/G | 0.23 | 0.30 | 2.05E−09 | 0.72 (0.65–0.80) |
1q32.2 | rs642961 | 209989270 | A/G | 0.23 | 0.30 | 1.16E−09 | 0.72 (0.64–0.80) | |
NSCLP versus NSCPO | 1q32.2 | rs861020 | 209977111 | A/G | 0.23 | 0.17 | 8.69E−11 | 1.51 (1.34–1.72) |
1q32.2 | rs642961 | 209989270 | A/G | 0.23 | 0.17 | 9.08E−11 | 1.51 (1.33–1.72) | |
1q32.2 | rs2064163 | 210048819 | A/C | 0.38 | 0.44 | 6.41E−08 | 0.76 (0.69–0.84) | |
1q32.2 | rs9430019 | 210050794 | A/G | 0.31 | 0.19 | 1.29E−25 | 1.87 (1.66–2.11) | |
2p25.1 | rs287980 | 9971366 | G/A | 0.23 | 0.27 | 7.67E−04 | 0.83 (0.74–0.92) | |
2p25.1 | rs287982 | 9972442 | G/A | 0.23 | 0.27 | 8.29E−04 | 0.83 (0.74–0.93) | |
2p24.2 | rs10172734 | 16733054 | G/A | 0.26 | 0.33 | 6.31E−09 | 0.73 (0.66–0.81) | |
2p24.2 | rs7552 | 16733928 | A/G | 0.24 | 0.28 | 6.33E−04 | 0.83 (0.74–0.92) | |
8q21.3 | rs1034832 | 88918331 | C/A | 0.31 | 0.35 | 4.11E−04 | 0.83 (0.75–0.92) | |
12q21.1 | rs2304269 | 72080272 | G/A | 0.39 | 0.45 | 8.58E−07 | 0.78 (0.71–0.86) | |
12q21.1 | rs7967428 | 72089040 | G/A | 0.40 | 0.45 | 1.98E−06 | 0.79 (0.72–0.87) | |
16p13.3 | rs2283487 | 3969886 | G/A | 0.42 | 0.47 | 3.21E−04 | 0.84 (0.76–0.92) | |
16p13.3 | rs17136624 | 3996282 | A/G | 0.26 | 0.22 | 8.59E−04 | 1.22 (1.08–1.36) | |
17p13.1 | rs2872615 | 8914693 | G/A | 0.43 | 0.49 | 2.59E−07 | 0.78 (0.70–0.85) | |
17p13.1 | rs1880646 | 8929845 | G/A | 0.48 | 0.53 | 2.45E−04 | 0.83 (0.76–0.92) | |
17q21.32 | rs1838105 | 45008935 | A/G | 0.44 | 0.38 | 2.28E−05 | 1.24 (1.12–1.37) | |
NSCLO versus NSCPO | 1q32.2 | rs861020 | 209977111 | A/G | 0.30 | 0.17 | 3.98E−24 | 2.10 (1.81–2.42) |
1q32.2 | rs642961 | 209989270 | A/G | 0.30 | 0.17 | 2.09E−24 | 2.11 (1.82–2.43) | |
1q32.2 | rs2064163 | 210048819 | A/C | 0.39 | 0.44 | 1.21E−04 | 0.79 (0.70–0.89) | |
1q32.2 | rs9430019 | 210050794 | A/G | 0.30 | 0.19 | 8.70E−18 | 1.84 (1.60–2.12) | |
2p24.2 | rs10172734 | 16733054 | G/A | 0.25 | 0.33 | 6.20E−09 | 0.68 (0.59–0.77) | |
8q21.3 | rs1034832 | 88918331 | C/A | 0.28 | 0.35 | 1.13E−06 | 0.73 (0.64–0.83) | |
10q25.3 | rs6585429 | 118893231 | G/A | 0.38 | 0.43 | 1.11E−03 | 0.82 (0.72–0.92) | |
17p13.1 | rs2872615 | 8914693 | G/A | 0.42 | 0.49 | 1.34E−05 | 0.77 (0.68–0.86) |
F_A, minor allele frequency in cases; F_U, minor allele frequency in controls; NSCLO, non-syndromic cleft lip only; NSCLP, non-syndromic cleft lip with palate; NSCPO, non-syndromic cleft palate only; OR, odds ratio; SNP, single-nucleotide polymorphism.
OR is calculated based on minor allele; alleles are shown as minor allele/major allele.
*P-value below 1.25 × 10−3 (0.05out of 40, the P-value using logistic regression test and Bonferroni correction) was considered to be statistically significant.