Table 1.

Summary of SNPs

ColonRectal
GeneAliasLocationSNPMajor/Minor alleleMAFaHeterozygote OR (95% CI)Homozygote rare OR (95% CI)Heterozygote OR (95% CI)Homozygote rare OR (95% CI)
Smad2MAD218q21.1rs1787199A/T0.461.08 (0.92–1.26)1.24 (1.03–1.51)0.85 (0.69–1.05)b
MADH2rs1792689C/T0.130.96 (0.82–1.12)1.30 (0.79–2.13)0.78 (0.62–0.98)b
JV18rs4940086T/C0.331.08 (0.94–1.25)1.33 (1.06–1.66)1.00 (0.81–1.23)1.05 (0.77–1.42)
Smad3MAD315q22.33rs750766G/A0.480.98 (0.84–1.15)0.93 (0.77–1.13)1.09 (0.89–1.34)b
MADH3rs893473C/T0.170.97 (0.84–1.13)0.99 (0.69–1.40)1.09 (0.73–1.62)c
JV15-2rs991157G/A0.30.93 (0.73–1.18)c1.11 (0.79–1.55)c
rs1498506A/C0.480.87 (0.75–1.02)0.69 (0.57–0.84)1.10 (0.88–1.38)0.96 (0.72–1.26)
rs1866317C/G0.110.98 (0.83–1.16)0.92 (0.48–1.76)1.12 (0.88–1.42)1.65 (0.77–3.54)
rs2118610G/A0.451.11 (0.95–1.29)0.94 (0.78–1.14)1.02 (0.82–1.27)1.02 (0.77–1.36)
rs2118611A/G0.21.03 (0.90–1.19)b0.89 (0.73–1.09)b
rs2414937G/C0.20.68 (0.47–0.97)c1.01 (0.82–1.24)1.02 (0.63–1.67)
rs3743343T/C0.241.10 (0.95–1.26)1.15 (0.87–1.52)0.97 (0.79–1.19)1.10 (0.77–1.58)
rs3825977C/T0.190.95 (0.82–1.11)1.01 (0.72–1.42)0.96 (0.78–1.18)0.76 (0.47–1.24)
rs4147358C/A0.221.08 (0.93–1.24)0.99 (0.73–1.33)1.03 (0.84–1.27)0.89 (0.60–1.33)
rs4776892A/T0.181.02 (0.89–1.18)b0.94 (0.76–1.16)1.14 (0.69–1.88)
rs7163381G/A0.260.76 (0.59–0.98)c1.11 (0.79–1.56)c
rs7176870A/G0.431.08 (0.93–1.24)b1.16 (0.94–1.42)b
rs11071933C/G0.331.04 (0.90–1.20)0.94 (0.75–1.16)0.84 (0.69–1.03)b
rs12901071A/G0.340.68 (0.55–0.85)c0.80 (0.57–1.10)c
rs17293443T/C0.220.84 (0.60–1.18)c1.81 (1.12–2.91)c
Smad4DPC418q21.1rs10502913G/A0.241.03 (0.89–1.19)0.81 (0.61–1.08)1.02 (0.83–1.25)1.09 (0.72–1.67)
MADH4
TGFβ1TGFB19q13.1rs1800469G/A0.310.89 (0.78–1.03)0.65 (0.51–0.84)1.02 (0.84–1.23)b
rs4803455C/A0.481.25 (1.06–1.47)1.43 (1.18–1.73)1.06 (0.84–1.32)1.04 (0.79–1.35)
TGFβR1ALK-59q22rs1571590A/G0.20.95 (0.82–1.10)1.39 (0.98–1.96)0.91 (0.74–1.12)1.42 (0.85–2.39)
SKR4rs6478974T/A0.490.85 (0.74–0.99)b0.85 (0.69–1.05)b
LDS1Ars10733710G/A0.21.07 (0.93–1.23)b1.17 (0.96–1.43)b
AAT5
  • aMAF based on White control population.

  • bDominant model.

  • cRecessive model.