Table 1.
Association results for the three previously identified BE risk SNPs 8 in 542 BE and 1106 EAC cases as well as 1602 controls of German descent
Phenotype | SNP | Chromosome | Position (bp)a | Alleleb | MAFc (%) in cases | MAFc (%) in controls | RRd (95% CI) | P value | Nearby genee |
---|---|---|---|---|---|---|---|---|---|
BE | rs3072 | 2p24 | 20,741,887 | G/A | 38.1 | 37.0 | 1.05 (0.91–1.21) | 5.32 × 10−01 | GDF7 |
BE | rs2701108 | 12q24 | 113,158,644 | G/A | 35.5 | 38.6 | 0.87 (0.75–1.01) | 6.38 × 10−02 | TBX5 |
BE | rs3784262 | 15q22 | 56,040,398 | G/A | 40.7 | 46.4 | 0.79 (0.68–0.91) | 9.70 × 10−04 | ALDH1A2 |
EAC | rs3072 | 2p24 | 20,741,887 | G/A | 41.3 | 37.0 | 1.20 (1.07–1.34) | 1.48 × 10−03 | GDF7 |
EAC | rs2701108 | 12q24 | 113,158,644 | G/A | 35.6 | 38.6 | 0.88 (0.78–0.98) | 2.47 × 10−02 | TBX5 |
EAC | rs3784262 | 15q22 | 56,040,398 | G/A | 44.3 | 46.4 | 0.92 (0.82–1.03) | 1.30 × 10−01 | ALDH1A2 |
BE/EAC | rs3072 | 2p24 | 20,741,887 | G/A | 40.3 | 37.0 | 1.15 (1.04–1.27) | 7.53 × 10−03 | GDF7 |
BE/EAC | rs2701108 | 12q24 | 113,158,644 | G/A | 35.6 | 38.6 | 0.88 (0.79–0.97) | 1.12 × 10−02 | TBX5 |
BE/EAC | rs3784262 | 15q22 | 56,040,398 | G/A | 43.1 | 46.4 | 0.88 (0.79–0.97) | 8.06 × 10−03 | ALDH1A2 |
Chromosomal position according to hg18.
First allele represents the minor allele.
Minor allele frequency (MAF) is given for cases and controls.
Relative Risk (RR) with 95% Confidence Interval (CI) indicating the genetic effect size is given for the minor allele.
Nearest gene to the associated SNPs is shown.