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. Author manuscript; available in PMC: 2012 Jan 1.
Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2010 Nov 10;20(1):57–69. doi: 10.1158/1055-9965.EPI-10-0843

Table 1.

Summary of SNPs


Colon Rectal
Gene Alias Location SNP Major/
Minor
Allele
MAF1 Heterozygote
OR (95% CI)
Homozygote
Rare OR
(95% CI)
Heterozygote
OR (95% CI)
Homozygote
Rare OR
(95%CI)
Smad2 MAD2 18q21.1 rs1787199 A/T 0.46 1.08 (0.92, 1.26) 1.24 (1.03, 1.51) 0.85 (0.69, 1.05)*
MADH2 rs1792689 C/T 0.13 0.96 (0.82, 1.12) 1.30 (0.79, 2.13) 0.78 (0.62, 0.98)*
JV18 rs4940086 T/C 0.33 1.08 (0.94, 1.25) 1.33 (1.06, 1.66) 1.00 (0.81, 1.23) 1.05 (0.77, 1.42)
Smad3 MAD3 15q22.33 rs750766 G/A 0.48 0.98 (0.84, 1.15) 0.93 (0.77, 1.13) 1.09 (0.89, 1.34)*
MADH3 rs893473 C/T 0.17 0.97 (0.84, 1.13) 0.99 (0.69, 1.40) 1.09 (0.73, 1.62)**
JV15-2 rs991157 G/A 0.3 0.93 (0.73, 1.18)** 1.11 (0.79, 1.55)**
rs1498506 A/C 0.48 0.87 (0.75, 1.02) 0.69 (0.57, 0.84) 1.10 (0.88, 1.38) 0.96 (0.72, 1.26)
rs1866317 C/G 0.11 0.98 (0.83, 1.16) 0.92 (0.48, 1.76) 1.12 (0.88, 1.42) 1.65 (0.77, 3.54)
rs2118610 G/A 0.45 1.11 (0.95, 1.29) 0.94 (0.78, 1.14) 1.02 (0.82, 1.27) 1.02 (0.77, 1.36)
rs2118611 A/G 0.2 1.03 (0.90, 1.19)* 0.89 (0.73, 1.09)*
rs2414937 G/C 0.2 0.68 (0.47, 0.97)** 1.01 (0.82, 1.24) 1.02 (0.63, 1.67)
rs3743343 T/C 0.24 1.10 (0.95, 1.26) 1.15 (0.87, 1.52) 0.97 (0.79, 1.19) 1.10 (0.77, 1.58)
rs3825977 C/T 0.19 0.95 (0.82, 1.11) 1.01 (0.72, 1.42) 0.96 (0.78, 1.18) 0.76 (0.47, 1.24)
rs4147358 C/A 0.22 1.08 (0.93, 1.24) 0.99 (0.73, 1.33) 1.03 (0.84, 1.27) 0.89 (0.60, 1.33)
rs4776892 A/T 0.18 1.02 (0.89, 1.18)* 0.94 (0.76, 1.16) 1.14 (0.69, 1.88)
rs7163381 G/A 0.26 0.76 (0.59, 0.98)** 1.11 (0.79, 1.56)**
rs7176870 A/G 0.43 1.08 (0.93, 1.24)* 1.16 (0.94, 1.42)*
rs11071933 C/G 0.33 1.04 (0.90, 1.20) 0.94 (0.75, 1.16) 0.84 (0.69, 1.03)*
rs12901071 A/G 0.34 0.68 (0.55, 0.85)** 0.80 (0.57, 1.10)**
rs17293443 T/C 0.22 0.84 (0.60, 1.18)** 1.81 (1.12, 2.91)**
Smad4 DPC4 18q21.1 rs10502913 G/A 0.24 1.03 (0.89, 1.19) 0.81 (0.61, 1.08) 1.02 (0.83, 1.25) 1.09 (0.72, 1.67)
MADH4
TGFβ1 TGFB 19q13.1 rs1800469 G/A 0.31 0.89 (0.78, 1.03) 0.65 (0.51, 0.84) 1.02 (0.84, 1.23)*
rs4803455 C/A 0.48 1.25 (1.06, 1.47) 1.43 (1.18, 1.73) 1.06 (0.84, 1.32) 1.04 (0.79, 1.35)
TGFβR1 ALK-5 9q22 rs1571590 A/G 0.2 0.95 (0.82, 1.10) 1.39 (0.98, 1.96) 0.91 (0.74, 1.12) 1.42 (0.85, 2.39)
SKR4 rs6478974 T/A 0.49 0.85 (0.74, 0.99)* 0.85 (0.69, 1.05)*
LDS1A rs10733710 G/A 0.2 1.07 (0.93, 1.23)* 1.17 (0.96, 1.43)*
AAT5
1

Minor Allele Frequency (MAF) based on white control population.

*

Dominant Model

**

Recessive Model