Table 1. Non-additive genetic interaction of prioritised inter–inter and inter–intra Lead SNP pairs validated in independent GWAS studies.
| Disease | Prioritised SNP pairs | SNPs with synergistic effects | Entropy P-value |
|---|---|---|---|
| Alzheimer’s | rs4509693–rs753129 (chr10, inter) (chr4, inter) rs7081208*–rs9331888* (chr10, FRMD4A) (chr8, CLU, MIR6843) | rs4509693–rs753129–rs7081208* | 0.046 |
| Bladder cancer | rs8102137–rs1014971 (chr19, inter) (chr22, inter) | rs8102137–rs1014971 | 0.039 |
Abbreviations: eQTL, expression quantitative trait loci; SNP, single-nucleotide polymorphism.
Entropy-based P values correspond to the observed statistical pattern of epistasis. SNP rs4509693 was associated with both cis and trans-eQTLs, but all other eQTL relationships were trans. Asterisks are used to indicate intragenic SNPs with host gene listed below.