Table 3 Genetic association of eight single nucleotide polymorphisms (SNPs) spread over collagen type III alpha I (COL3A1) in the Trio cohort and in the extended adult case–control cohort
NumberSNPGastro-oesophageal reflux diseaseHiatus hernia
Trios, allTrios, malesCase–control, allCase–control, males
p Valuep Valuepcorrp Valuepcorrp Valuepcorr
1rs126935200.180.01670.080.851.000.450.95
2rs64343040.0420.00370.0180.951.000.250.76
3rs20561560.210.09130.370.0680.310.040.19
4rs31067980.300.110.420.0280.140.090.40
5rs75799030.0550.0230.120.00370.0220.440.94
6rs18002550.0920.0680.310.440.950.090.37
7rs10401870.950.761,00.140.540.380.90
8rs31346460.910.390,910.0250.130.0030.019
  • 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.