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Table 4 Replication analysis of previous facial morphology GWASs

From: Identification of five novel genetic loci related to facial morphology by genome-wide association studies

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
  1. AlrL alare left, AlrR alare right, Prn pronasale, ZygL zygion left, ZygR zygion right, Nsn nasion, EyeL eyeball left, EyeR eyeball right
  2. aGenes are defined as previously reported
  3. br2 is calculated based on data from phase 3 of the 1000 Genomes Project in the Asian panel (Chinese and Japanese)
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BMC Genomics

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