Table 4.
Replication analysis of previous facial morphology GWASs
| Previously reported index SNP | Genea | Previously reported association phenotype | Reference | Tested SNP | LD (r2)b | Coded allele | Non-coded allele | Associated facial traits in Phase 1 | Association results | |
|---|---|---|---|---|---|---|---|---|---|---|
| beta ± se | P-value | |||||||||
| rs7559271 | PAX3 | Nasion position,n-men | Adhikari, et al. [14] Paternoster et al. [12] | rs11683100 | 0.70 | G | T | Profile nasal area | 0.007 ± 0.004 | 0.043 |
| rs4648379 | PRDM16 | AlrR-Prn, AlrL-Prn | Liu et al. [13] | rs4648478 | 0.65 | G | A | Profile nasal angle | −0.005 ± 0.001 | 5.70 × 10− 6 |
| rs6555969 | C5orf50 | ZygR-Nsn,ZygL-Nsn,EyeR-Nsn,EyeL-Nsn | Liu et al. [13] | rs6555969 | 1.00 | T | C | Right palpebrale fissure length | 0.086 ± 0.069 | 0.210 |
| rs805722 | COL17A1 | EyeR-Nsn,EyeL-Nsn | Liu et al. [13] | rs805693 | 0.97 | T | C | Left palpebral fissure height | −0.039 ± 0.036 | 0.288 |
| rs2045323 | DCHS2 | Columella inclination,Nose protrusion,Nose tip angle | Adhikari et al. [14] | rs4315762 | 0.68 | G | C | Subnasal width | −0.247 ± 0.054 | 4.84 × 10−6 |
| rs1852985 | SUPT3H/RUNX2 | Nose bridge breadth | Adhikari et al. [14] | rs1284964 | 1.00 | G | A | Nasal bridge angle | 0.429 ± 0.101 | 2.28 × 10−5 |
| rs2424399 | PAX1 | Nasal width | Shaffer et al. [15] | rs6082475 | 1.00 | G | A | Subnasal width | 0.164 ± 0.049 | 7.28 × 10−4 |
| rs9868698 | SCHIP1 | PC4(facial height, nasal width) | Cole et al. [16] | rs627865 | 0.98 | G | C | Subnasal width | 0.036 ± 0.051 | 0.485 |
| rs2817419 | TFAP2B | EX_R_EX_L(outer canthal width) | Cole et al. [16] | rs3857597 | 0.77 | T | C | Outercanthal width | 0.228 ± 0.138 | 0.098 |
| rs35965172 | TFAP2B | EN_EX(Palpebral fissure length) | Cole et al. [16] | rs3857597 | 0.78 | T | C | Right eyelid width | 0.011 ± 0.008 | 0.196 |
| rs7836044 | intergenic | STO_SL(lower lip height) | Cole et al. [16] | rs3850505 | 0.99 | C | T | Left upper lip thickness | −0.006 ± 0.004 | 0.163 |
| rs9456748 | PARK2 | factor 9(Facial height related to the vertical position of nasion; Nasion) | Lee et al. [17] | rs6904579 | 0.86 | G | A | Facial height | −0.212 ± 0.099 | 0.033 |
| rs5781117 | LYPLAL1 | nose size | Pickrell et al. [21] | rs2605100 | 0.78 | T | C | Profile nasal angle | 0.003 ± 0.001 | 0.030 |
| rs424737 | ROBO1 | nose size | Pickrell et al. [21] | rs333472 | 1.00 | C | T | Nasal tip height | 0.007 ± 0.003 | 6.58 × 10−3 |
| rs2929451 | PPP1R3B | nose size | Pickrell et al. [21] | rs2929453 | 0.94 | G | A | Nasal tip protrusion | −0.009 ± 0.007 | 0.212 |
| rs10779169 | RASSF9 | nose size | Pickrell et al. [21] | rs2405254 | 0.99 | T | A | Profile nasal angle | 0.003 ± 0.001 | 8.30 × 10−3 |
| rs11782517 | MSRA | nose size | Pickrell et al. [21] | rs12544801 | 0.90 | G | C | Nasolabial angle | −0.005 ± 0.003 | 0.081 |
| rs767764 | DLC1 | nose size | Pickrell et al. [21] | rs2278945 | 0.71 | G | A | Nasal bridge angle | −0.307 ± 0.092 | 8.94 × 10−4 |
| rs34702092 | RAD51B | nose size | Pickrell et al. [21] | rs11624333 | 1.00 | G | A | Nasal bridge angle | −0.438 ± 0.156 | 5.02 × 10−3 |
| rs6101567 | DHX35 | nose size | Pickrell et al. [21] | rs6129346 | 0.99 | C | T | Frontal nasal height | −0.299 ± 0.076 | 7.53 × 10−5 |
AlrL alare left, AlrR alare right, Prn pronasale, ZygL zygion left, ZygR zygion right, Nsn nasion, EyeL eyeball left, EyeR eyeball right
aGenes are defined as previously reported
br2 is calculated based on data from phase 3 of the 1000 Genomes Project in the Asian panel (Chinese and Japanese)