| Number | SNP | Gastro-oesophageal reflux disease | Hiatus hernia | |||||
| Trios, all | Trios, males | Case–control, all | Case–control, males | |||||
| p Value | p Value | pcorr | p Value | pcorr | p Value | pcorr | ||
| 1 | rs12693520 | 0.18 | 0.0167 | 0.08 | 0.85 | 1.00 | 0.45 | 0.95 |
| 2 | rs6434304 | 0.042 | 0.0037 | 0.018 | 0.95 | 1.00 | 0.25 | 0.76 |
| 3 | rs2056156 | 0.21 | 0.0913 | 0.37 | 0.068 | 0.31 | 0.04 | 0.19 |
| 4 | rs3106798 | 0.30 | 0.11 | 0.42 | 0.028 | 0.14 | 0.09 | 0.40 |
| 5 | rs7579903 | 0.055 | 0.023 | 0.12 | 0.0037 | 0.022 | 0.44 | 0.94 |
| 6 | rs1800255 | 0.092 | 0.068 | 0.31 | 0.44 | 0.95 | 0.09 | 0.37 |
| 7 | rs1040187 | 0.95 | 0.76 | 1,0 | 0.14 | 0.54 | 0.38 | 0.90 |
| 8 | rs3134646 | 0.91 | 0.39 | 0,91 | 0.025 | 0.13 | 0.003 | 0.019 |
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Only the males from the Trio cohort show significant genetic association for SNP number 2 after multiple testing adjustments with a pcorr of 0.018. There is no gender bias in the adult case control cohort. Significant association for GORD in the case–control cohort was identified for SNP number 5 with a pcorr of 0.022. COL3A1 is also associated with hiatus hernia in the adult case–control cohort. The associated SNP, number 8, has a pcorr of 0.019. The identified association is male specific. The patient overlap is 98 individuals, eg, having both GORD and hiatus hernia.
