Table 1 The four different GORD patient collections used in this study to identify collagen type III alpha I (COL3A1) as a susceptibility gene for GORD
Patient collectionOriginUsageTotal no of individualsNo of patients with GORDNo of healthy individuals
1FamiliesWomen’s & Children’s Hospital Adelaide, AustraliaWhole-genome linkage analysis504237168
2TriosWomen’s & Children’s Hospital Adelaide, AustraliaGenetic association of candidate genes1092364728
3Case–control extended KalixandaKarolinska Institute, SwedenGenetic association, replication of findings741256485
4Case–control EsoNerdSahlgrenska Hospital, SwedenImmunohistochemistry38308
  • The family patient collection includes an additional 99 individuals with unknown gastro-oesophageal reflux disease (GORD) status. Affected children of the trios are listed as cases and their parents as controls. In the extended Kalixanda cohort, 98 individuals were diagnosed with both GORD and hiatus hernia (HH). The remaining 131 HH individuals were added from the original Kalixanda cohort,28 producing a separate HH case control material, consisting of 229 cases and the 485 controls.