Table 1. Features of the nine chromosomal regions newly associated with face profile traits in the CANDELA sample.
Candidate genes where the index SNP is intragenic are underlined. Association P values in bold are genome-wide significant (P ≤ 5 × 10−8). Rep., European meta-analysis; AFR, sub-Saharan African; EUR, European (from 1000 genomes); NAM, Native American (14); CAN, CANDELA. “# SNPs” refers to the total number of genome-wide significant SNPs in that chromosomal region (P value ≤ 5 × 10−8).
|
Chromosomal region |
Nearest candidate gene |
Index SNP | Association P value |
Rep. P value |
Minor allele frequency |
# SNPs |
||||||||||||
|
Forehead protrusion 1 |
Eye position 1 |
Nose roundness 1 |
Columella inclination |
Columella size |
Lip thickness 1 |
Lower lip thickness 1 |
Lower lip thickness 2 |
Lip protrusion |
Jaw protrusion 2 |
AFR | EUR | NAM | CAN | |||||
| 3q13.32 | IGSF11 | rs7633584 | 7.3 × 10−3 | 5.2 × 10−1 | 1.8 × 10−8 | 4.4 × 10−6 | 4.2 × 10−1 | 1.6 × 10−1 | 3.8 × 10−1 | 2.0 × 10−1 | 8.2 × 10−2 | 2.6 × 10−1 | 2.4 × 10−4 | 0.29 | 0.05 | 0.39 | 0.22 | 11 |
| 6q24.3 | STXBP5-AS1 | rs6570789 | 9.8 × 10−1 | 8.0 × 10−1 | 2.0 × 10−1 | 2.2 × 10−1 | 4.1 × 10−2 | 7.9 × 10−2 | 1.2 × 10−2 | 4.2 × 10−2 | 1.2 × 10−8 | 3.3 × 10−3 | 9.2 × 10−3 | 0.40 | 0.55 | 0.92 | 0.68 | 11 |
| 7p12.1 | INTERGENIC (COBL) | rs17134499 | 6.2 × 10−1 | 4.1 × 10−8 | 9.9 × 10−1 | 6.4 × 10−1 | 1.3 × 10−1 | 5.6 × 10−1 | 6.5 × 10−1 | 6.6 × 10−1 | 6.3 × 10−1 | 9.8 × 10−1 | 6.6 × 10−2 | 0.32 | 0.02 | 0.03 | 0.03 | 3 |
| 7p21.1 | HDAC9 | rs1178103 | 9.4 × 10−1 | 1.1 × 10−4 | 2.4 × 10−4 | 3.3 × 10−8 | 1.2 × 10−4 | 1.9 × 10−2 | 4.1 × 10−3 | 7.4 × 10−3 | 3.0 × 10−3 | 2.6 × 10−1 | 4.9 × 10−4 | 0.13 | 0.18 | 0.38 | 0.26 | 1 |
| 7q31.31 | CPED1, WNT16 | rs6950680 | 4.9 × 10−4 | 7.2 × 10−1 | 9.8 × 10−1 | 5.6 × 10−1 | 2.1 × 10−1 | 6.9 × 10−1 | 4.7 × 10−1 | 3.4 × 10−1 | 8.2 × 10−1 | 3.6 × 10−8 | 2.0 × 10−4 | 0.21 | 0.36 | 0.04 | 0.21 | 2 |
| 8q22.2 | VPS13B | rs75976055 | 5.7 × 10−2 | 8.3 × 10−1 | 8.8 × 10−2 | 3.0 × 10−2 | 4.2 × 10−11 | 8.3 × 10−1 | 2.8 × 10−2 | 9.3 × 10−2 | 3.7 × 10−2 | 3.0 × 10−1 | 5.0 × 10−5 | 0.08 | 0.13 | 0.31 | 0.38 | 598 |
| 8q22.3 | PABPC1 | 8:101737776:AT:ATT | 1.0 × 10−2 | 8.5 × 10−1 | 4.9 × 10−7 | 1.1 × 10−8 | 3.6 × 10−3 | 1.7 × 10−1 | 6.9 × 10−1 | 9.6 × 10−1 | 3.9 × 10−1 | 1.3 × 10−1 | – | 0.23 | 0.00 | 0.00 | 0.02 | 17 |
| 11p15.5 | LSP1 | rs907613 | 4.9 × 10−1 | 3.7 × 10−1 | 7.7 × 10−1 | 5.4 × 10−1 | 7.1 × 10−1 | 4.2 × 10−8 | 4.0 × 10−8 | 1.4 × 10−8 | 4.9 × 10−1 | 9.8 × 10−1 | 4.0 × 10−2 | 0.09 | 0.33 | 0.41 | 0.39 | 8 |
| 17p13.3 | SMG6 | rs8069947 | 1.2 × 10−9 | 1.8 × 10−1 | 2.2 × 10−1 | 3.8 × 10−1 | 6.8 × 10−1 | 2.7 × 10−2 | 2.6 × 10−2 | 5.0 × 10−2 | 4.2 × 10−1 | 7.1 × 10−1 | 2.3 × 10−2 | 0.26 | 0.49 | 0.59 | 0.54 | 41 |