Table 1.
Reported germline markers of Barrett’s esophagus susceptibility
| Marker | Individual studies | Association (meta-analysis/individual study) | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LOE | Variant | Gene | Association | EV | LOE | Ethnicity | Methodology | |||||||
| Variant | Wild-type | None | Phenotype and OR (95 % CI) | I 2 | Chi | p | n | |||||||
| III | rs9257809 | MHC region | Su et al. [32], Palles et al. [33] | A | C | Caucasian | Multistage GWAS Pro/retro archived |
BEA 1.21 (1.13–1.28) | NA | NA | 4.09 × 10−9 | 1 | ||
| rs9936833 | FOXF1 | C | BEA 1.14 (1.10–1.19) | 2.74 × 10−10 | ||||||||||
| rs3072 | GDF7 | A | BEA 1.14 (1.09–1.18) | 1.75 × 10−11 | ||||||||||
| rs2701108 | TBX5 | A | BEA 0.90 (0.86–0.93) | 7.48 × 10−9 | ||||||||||
| rs2687201 | FOXP1 | T | BEA 1.16 (1.10–1.23) | 4.61 × 10−8 | ||||||||||
| III | rs3776082 | CDX1 | Ren et al. [43] | AA | C | Caucasian | Candidate Prospective |
BE-v-RE 4.02 (1.80–9.00) | NA | NA | <0.005 | 1 | ||
| III | rs2237091 | CDX1 | Ren et al. [43] | AA | C | Caucasian | Candidate Prospective |
BE-v-RE 0.28 (0.13–0.59) | NA | NA | <0.005 | 1 | ||
| III | rs717746 | CDX1 | Ren et al. [43] | GG | C | Caucasian | Candidate Prospective |
BE-v-RE 3.65 (1.73–7.69 | NA | NA | <0.005 | 1 | ||
| III | rs4444903 | EGFR | Menke et al. [20] | GG | C | Caucasian* | Candidate Retro archived |
BEA 3.00 (1.50–6.20) | NA | NA | 0.002 | 1 | ||
| III | rs917997 | IL18RAP | Babar et al. [29] | CC | C | Caucasian** | Candidate Retro archived |
BEA 0.59 (0.43–0.80) | NA | NA | 6.00 × 10−4 | 1 | ||
| III | rs6785049 | PXR | van de Winkel et al. [44] | G | C | Caucasian* | Candidate Retro archived |
BE 1.36 (1.03–1.79) | NA | NA | <0.05 (NS) | 1 | ||
| III | rs6214 | IGF1 | McElholm [21] | AA | C | Caucasian** | Candidate Retro archived |
BEA 0.43 (0.24–0.75) | NA | NA | 3.00 × 10−3 | 1 | ||
| III | rs2229765 + BMI > 30 | IGF1R | MacDonald et al. [22] | A | C | Caucasian | Candidate Retro archived |
BEA 3.11 (1.12–8.63) | NA | NA | <0.05 (NS) | 1 | ||
| III | rs3212227 | IL12B | Moons et al. [26] | C | C | Caucasian* | Candidate Retro archived |
BEA 1.82 (1.17–2.69) | NA | NA | 7.00 × 10−3 | 1 | ||
| II | rs1695 | GSTP | Bull et al. [18] | G | C | Caucasian | Meta-analysis | BE 1.50 (1.16–1.95) | NA | NA | <0.01 | 4 | ||
| Kala et al. [19] | G | Caucasian | Candidate (pro) | |||||||||||
| Murphy et al. [45] | G | Caucasian | Candidate (retro) | |||||||||||
| Casson et al. [46] | G | NP | Candidate (pro) | |||||||||||
| van Lieshout et al. [47] | G | Caucasian | Candidate (pro) | |||||||||||
| III | rs9344 | CCND1 | Casson et al. [31] | AA | C | NP | Candidate (pro) | BEA 3.69 (1.46–9.29) | NA | NA | <0.05 (NS) | 1 | ||
| III | rs25487 | XRCC1 | Casson et al. [48] | Ferguson et al. [49] | AA | C | NP | Candidate (pro) | BEA 0.65 (0.25–1.68) | 71 % | 3.42 | 0.370 | 2 | |
| AA | C | Caucasian | Candidate (retro) | |||||||||||
LOE level of evidence, EV effect variant, NS nonsignificant, NP not presented, BE Barrett’s esophagus, A adjusted OR, OR odds ratio, CI confidence interval, pro prospective, retro retrospective, RE reflux esophagitis, NA not applicable
*,** denote overlapping populations