Table 2.
Pathway | SNP | Chromosome | Gene1 | Alleles E/R2 | EAF2 | MELARISK
|
MDACC
|
Meta-analysis
|
Multiple-testing corrected thresholds6
|
||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Interaction effect | Interaction effect | Interaction effect | |||||||||||
βint3 (seint) | pint4 | βint3 (seint) | pint4 | βmeta-int5 (semeta-int) | pmeta-int5 | Tpathway | Toverall | ||||||
Myeloid cell differentiation | |||||||||||||
rs3117048 | 1p36.1 | 34kU CDC42 | A/G | 0.31 | 0.11 | 5.6x10−5 | 0.07 | 7.1x10−3 | 0.09 | 2.2x10−6 | 7.5x10−6 | 2.5x10−6 | |
rs7798406 | 7p21.3 | SCIN (intron) | A/G | 0.46 | (0.03) | (0.03) | (0.02) | ||||||
Cytokine activity | |||||||||||||
rs9505270 | 6p24-p23 | BMP6 (intron) | A/G | 0.27 | 0.12 | 2.1x10−5 | −0.05 | 0.05 | 0.02 | 0.22 | 1.5x10−6 | 5.0x10−7 | |
rs4276645 | 8p12 | NRG1 (intron) | A/G | 0.33 | (0.03) | (0.02) | (0.02) | ||||||
rs3734034 | 5q33.3 | CYFIP2 (exon) | T/C | 0.35 | 0.10 | 3.7x10−5 | −0.04 | 0.05 | 0.02 | 0.28 | |||
rs2066266 | 6p22.3 | 17kD PRL | G/A | 0.44 | (0.03) | (0.02) | (0.02) |
Gene symbol; k indicates distance to gene in kilobases (Build 37.1); U indicates "upstream of"; D indicates "downstream of ". Upstream and downstream respectively refer to the 5’ and 3’ ends of the coding strand of each gene.
E/R=Effect allele/Reference allele; EAF=Effect allele frequency.
βint is the regression coefficient of interaction effect between SNPs on Breslow thickness; seint is the standard error of βint
pint is the p-value of the likelihood-ratio test for interaction (one degree of freedom test)
βmeta-int and semeta-int are the regression coefficient and standard error of interaction effect between SNPs in the meta-analysis of MELARISK and MDACC; pmeta-int is the p-value associated with the Wald test of meta-analysed interaction effect
Tpathway and Toverall are respectively the pathway-corrected and overall-corrected critical thresholds to take into account multiple testing.