Table 1. CRC risk-associated GWAS SNPs assessed for allele-specific imbalance in the present study.
| SNP | Position* | Gene(s)/Locus | Genotype | dbSNP MAF† | GWAS Reference(s) | OR (95% CI)§ | P-value‡ |
| rs10411210 | chr19:33,532,300 | RHPN2 | CT | T = 0.21 | [10] | 0.87 (0.83–0.91) | 4.6×10−9 |
| rs10936599 | chr3:169,492,101 | MYNN synonymous coding | CT | T = 0.30 | [15] | 0.93 (0.91–0.96) | 3.39×10−8 |
| rs11169552 | chr12:51,155,663∞ | ATF1, DIP2B | CT | T = 0.24 | [15] | 0.92 (0.90–0.95) | 1.89×10−10 |
| rs16892766 | chr8:117,630,683 | EIF3H | AC | C = 0.07 | [14], [32] | 1.43 (1.13–1.82) | 3.3×10−18 |
| rs3802842 | chr11:111,171,709 | C11orf93 | AC | C = 0.31 | [13], [32] | 1.11 (1.08–1.15) | 5.8×10−10 |
| rs4444235 | chr14:54,410,919 | BMP4 | TC | C = 0.44 | [10], [32] | 1.11 (1.08–1.15) | 8.1×10−10 |
| rs4779584 | chr15:32,994,756 | SCG5, GREM1 | CT | T = 0.46 | [14], [32] | 1.70 (1.35–2.14) | 4.7×10−7 |
| rs4925386 | chr20:60,921,044 | LAMA5 | CT | T = 0.41 | [15] | 0.93 (0.91–0.95) | 1.89×10−10 |
| rs4939827 | chr18:46,453,463 | SMAD7 | CT | T = 0.38 | [27], [14], [13], [32] | 0.85 (0.81–0.89) | 1.0×10−12 |
| rs6687758 | chr1:222,164,948# | Intergenic | AG | G = 0.22 | [15] | 1.09 (1.06–1.12) | 2.27×10−9 |
| rs6691170 | chr1:222,045,446# | Intergenic | GT | T = 0.26 | [15] | 1.06 (1.03–1.09) | 9.55×10−10 |
| rs6983267 | chr8:128,413,305▵ | Intergenic | GT | T = 0.44 | [9], [28], [14], [31], [32] | 1.21 (1.15–1.27) | 1.27×10−14 |
| rs7014346 | chr8:128,424,792▵ | Intergenic | GA | A = 0.33 | [13] | 1.19 (1.15–1.23) | 8.6×10−26 |
| rs7136702 | chr12:50,880,216∞ | LARP4, DIP2B | CT | T = 0.46 | [15] | 1.06 (1.04–1.08) | 4.02×10−8 |
| rs719725 | chr9:6,365,683 | Intergenic | AC | C = 0.33 | [29], [28], [30] | 1.13 (NA) | 4.98×10−5 |
| rs961253 | chr20:6,404,281 | BMP2 | CA | A = 0.29 | [10], [32] | 1.12 (1.08–1.16) | 2.0×10−10 |
| rs9929218 | chr16:68,820,946 | CDH1 | GA | A = 0.25 | [10], [32] | 0.91 (0.89–0.94) | 1.2×10−8 |
*
Position by UCSC Genome Browser (Human Feb. 2009 GRCh37/hg19 Assembly).
†
MAF = Minor Allele Frequency, as listed on NCBI dbSNP.
§
Odds Ratio from first listed GWAS reference (95% confidence interval). NA = not available.
‡
P-value from first listed GWAS reference.
∞
SNP positions in modest linkage disequilibrium (D′ = 0.76, ref. 15).
#
SNP positions in modest linkage disequilibrium (D′ = 0.71, ref. 15).
▵
SNP positions in high linkage disequilibrium (D′ = 0.99, ref. 9).