Table 1. Pathways with significant enrichment in the BCC GWAS.
| Database | Pathway | Gene Count1 | FDR2 | Pathway Enrichment p-value | Genes with PBCC<0.013 | SNP4 | SNP PBCC |
| KEGG | Heparan sulfate biosynthesis pathway | 19 | 0.35 | 0.007 | HS3ST3A1 | rs8074072 | 1.93E-03 |
| HS6ST2 | rs7881124 | 2.37E-03 | |||||
| HS6ST3 | rs8002510 | 3.43E-03 | |||||
| HS6ST1 | rs11890277 | 5.43E-03 | |||||
| HS3ST1 | rs1024034 | 6.45E-03 | |||||
| EXTL3 | rs12544882 | 9.74E-03 | |||||
| EXT2 | rs7950395 | 9.75E-03 | |||||
| BioCarta | mCalpain pathway | 24 | 0.18 | 0.002 | ITGA1 | rs1833556 | 2.69E-04 |
| MYLK | rs820455 | 8.99E-04 | |||||
| EGF | rs6824594 | 9.55E-04 | |||||
| CAPNS2 | rs4784549 | 6.13E-03 | |||||
| PXN | rs11611541 | 7.07E-03 | |||||
| PRKACG | rs1590944 | 8.31E-03 | |||||
| ITGB1 | rs7079624 | 8.66E-03 | |||||
| BioCarta | Rho cell motility signalling pathway | 32 | 0.30 | 0.011 | MYLK | rs820455 | 8.99E-04 |
| ROCK1 | rs1481280 | 9.06E-04 | |||||
| BAIAP2 | rs9903763 | 1.44E-03 | |||||
| OPHN1 | rs5965550 | 3.70E-03 | |||||
| PIP5K1B | rs963707 | 4.37E-03 | |||||
| ACTR3 | rs2279839 | 4.84E-03 | |||||
| ARHGEF1 | rs11665965 | 5.40E-03 | |||||
| BioCarta | Nitric oxide pathway | 30 | 0.42 | 0.022 | VEGFA | rs13211073 | 4.54E-04 |
| RYR2 | rs2805434 | 9.35E-04 | |||||
| PRKG1 | rs10762543 | 1.92E-03 | |||||
| BDKRB2 | rs874284 | 4.73E-03 | |||||
| NOS3 | rs3763486 | 7.79E-03 | |||||
| CHRM1 | rs4592425 | 8.24E-03 | |||||
| PRKACG | rs1590944 | 8.31E-03 | |||||
| TNNI1 | rs6697016 | 8.70E-03 |
1
The number of the genes with SNPs tested in BCC GWAS;
2
Based on 1000 permutations, with 174 tested pathways for KEGG darabase and 205 tested pathways for Biocarta darabase;
3
PBCC is p-value of SNP for BCC association. Only the genes whose representative SNPs reached PBCC<0.01 are listed here and the information of all enriched genes in the four pathways are listed in Table S3;
4
Representative SNP for each gene with the smallest PBCC.