Table 5.
Pathways associated with endometrial cancer in discover analysis.
| KEGG pathway | N locus | MAC case | MAC control | SKAT-O p-value | FDR corrected p-value | Bonferroni corrected p-value |
|---|---|---|---|---|---|---|
| Pyrimidine metabolism | 271 | 173 (30.29%) | 1384 (28.73%) | 5.86E-06 | 0.0019 | 0.0018 |
| Protein processing in endoplasmic reticulum | 302 | 96 (18%) | 654 (14.28%) | 9.60E-05 | 0.0152 | 0.0304 |
| Pentose and glucuronate interconversions | 120 | 85 (16.95%) | 670 (14.65%) | 8.31E-04 | 0.0704 | 0.2635 |
| Pancreatic secretion | 293 | 85 (15.68%) | 543 (12.04%) | 1.18E-03 | 0.0704 | 0.3728 |
| RNA polymerase | 69 | 20 (4.023%) | 152 (3.5%) | 1.28E-03 | 0.0704 | 0.4044 |
| Pantothenate and CoA biosynthesis | 64 | 26 (5.51%) | 164 (3.92%) | 1.33E-03 | 0.0704 | 0.4223 |
The associations were adjusted for age, BMI, and four principal components. The table shows the number of loci, allele counts in cases and controls and association results for discovery and replication datasets.
N locus, Total number of genomic loci binned in the gene; MAC Case, Total minor allele count in the gene in case population with the percentage samples that have rare variants; MAC Control, Total minor allele count in the gene in control population with the percentage samples that have rare variants.