Table 2.
Genome-wide significant genes in the TWAS of the hair colour categories: blonde, brown and red.
| Gene | Chr | GWAS best SNP | GWAS Z-score | eQTL best SNP | eQTL Z-score | # of SNPs | # weighted SNPs | TWAS Z-score | TWAS p-value |
|---|---|---|---|---|---|---|---|---|---|
| Blonde Hair Colour | |||||||||
| EDNRB | 13 | rs7330412 | −5.4 | rs7330412 | −3.89 | 1204 | 1 | 5.404 | 6.52E-08 |
| RIN3* | 14 | rs12896399 | 11.51 | rs12893289 | −6.14 | 986 | 4 | −11.3069 | 1.21E-29 |
| SLC24A4* | 14 | rs12896399 | 11.51 | rs61977801 | −6.68 | 933 | 11 | −11.1083 | 1.14E-28 |
| OCA2 | 15 | rs12913832 | −25.28 | rs12913832 | 6.24 | 489 | 1 | −25.282 | 5.04E-141 |
| Brown Hair Colour | |||||||||
| OCA2 | 15 | rs1129038 | −15.2 | rs12913832 | 6.24 | 489 | 1 | −15.203 | 3.38E-52 |
| Red Hair Colour | |||||||||
| CDK10 | 16 | rs1805007 | 18.67 | rs11538871 | −5.69 | 987 | 5 | −7.23615 | 4.62E-13 |
Genome-wide significant threshold: p-value ≤ 4.17e-06. GWAS/eQTL best SNP is the most significant SNP on each analysis. Chr chromosome. *Signals are not independent from each other, as evidenced by conditional TWAS.