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. 2018 Feb;188(2):291–303. doi: 10.1016/j.ajpath.2017.07.023

Table 1.

Associations Identified in Two Replication Studies that Tested for Association at Known Susceptibility Regions

Gene region Chr SNP ID Position, bp Allele F(A) OR P value Ref Notes
LINC01655 1q41 12759486 222,066,536 T 0.58 0.86 1.5 × 10−4 19 Fine-mapping SNP
C5orf66 5q31.1 rs647161 134499052 A 0.55 1.14 0.002 19 Index SNP
SLC22A3 6q26-27 rs7758229 160,840,252 T 0.11 1.08 0.056 19 Index SNP
EIF3H 8q23.3 rs16892766 117,630,683 C 0.13 1.17 0.0058 19 Index SNP
EIF3H 8q23.3 rs16892766 117,630,683 C 0.13 1.15 0.19 20 Index SNP
MYC 824.21 rs6983267 128,413,305 T 0.13 0.87 0.029 19 Index SNP
MYC 824.21 rs6983267 128,413,305 T 0.12 0.87 0.21 20 Index SNP
MYC 824.21 rs7014346 128,424,792 G 0.39 1.05 0.27 19 Index SNP
MYC 824.21 rs7014346 128,424,792 G 0.39 1.15 0.06 20 Index SNP
POLD3 11q13.4 rs3824999 74,345,550 G 0.20 1.15 0.009 19 Index SNP
GREM1 15q13.3 rs16969681 32,993,111 T 0.13 1.16 0.01 19 Index SNP
GREM1 15q13.3 rs10318 33,025,979 T 0.03 1.45 0.04 20 Index SNP
GREM1 15q13.3 rs11632715 33,004,247 A 0.38 1.04 0.34 19 Index SNP
GREM1 15q13.3 rs11632715 33,004,247 A 0.29 2.36 0.004 20 Index SNP
GREM1 15q13.3 rs17816285 33,039,298 G 0.29 3.13 2 × 10−4 21 Novel SNP association
CDH1 16q22.1 rs9929218 68,820,946 A 0.29 0.93 0.12 19 Index SNP
CDH1 16q22.1 rs1862748 68,832,943 T 0.20 0.82 0.023 20 Index SNP
RHPN2 19q13.1 rs7252505 33,575,064 A 0.62 0.85 1.8 × 10−4 19 Fine-mapping SNP
RHPN2 19q13.1 rs113984415 33,555,034 A 0.19 0.13 8 × 10−5 21 Novel SNP association
CASC20 20p12.3 rs961253 6,404,281 A 0.36 1.08 0.054 19 Index SNP
CASC20 20p12.3 rs961253 6,404,281 A 0.37 0.93 0.30 20 Index SNP

The studies by Wang et al19 and Kupfer et al20 included African American subjects comparing 1894 cases with 4703 controls and 795 cases with 985 controls, respectively. Wang et al19 tested 21 risk-associated regions, and Kupfer et al20 tested 10 risk-associated regions. The two studies share a small subset of North Carolina subjects. Two novel associations were reported for GREM1 and RHPN2 in the study by Kupfer et al.21 Fine-mapping SNP is an SNP correlated with the index SNP that showed a stronger association P value. Unless otherwise stated, a log-additive model was used to estimate effect size and P value.

Allele, allele used as reference; Chr, chromosome; F(A), frequency of the reference allele; ID, identification; OR, odds ratio (not adjusted for local ancestry); P value, P value of association; Ref, article from which data were reproduced; SNP, single-nucleotide polymorphism.

Assignment of a gene to the association is based on proximity to the nearest risk-associated SNP.

The association shown was observed for left-sided colorectal cancer only. No association was observed for all colorectal cancer.

Recessive model.