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. 2016 Apr 27;1:16006. doi: 10.1038/npjgenmed.2016.6

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.