Table 2

Association of known CSID mutations with IBS

IBSSubtypesCTRLSp Value*ORExACp Value*OR
N=1031N=856N=31 402
p.Val577Gly144 IBS-D, 5 IBS-M, 5 IBS-C60.121.95203 0.0029 2.11
p.Gly1073Asp33 IBS-D30.570.831090.420.89
p.Arg1124Ter11 IBS-D080.0774.04
p.Phe1745Cys41 IBS-D, 2 IBS-M, 1 IBS-U10.253.331100.421.11
Any mutation229 IBS-D, 7 IBS-M, 5 IBS-C, 1 IBS-U100.0741.84430 0.020 1.57
  • *p Value for carriage of SI mutations in IBS cases (IBS) versus controls (CTRLS) and versus ExAC-sequenced individuals of European descent (ExAC).

  • CSID, Congenital sucrase–isomaltase deficiency; ExAC, Exome Aggregation Consortium; SI, sucrase–isomaltase; IBS-C, constipation-predominant IBS; IBS-D, diarrhoea-predominant IBS; IBS-M, IBS mixed phenotype; IBS-U, unclassified IBS. Significant p Values (<0.05) highlighted in bold italics.