Association of known CSID mutations with IBS
| IBS | Subtypes | CTRLS | p Value* | OR | ExAC | p Value* | OR | |
|---|---|---|---|---|---|---|---|---|
| N=1031 | N=856 | N=31 402 | ||||||
| p.Val577Gly | 14 | 4 IBS-D, 5 IBS-M, 5 IBS-C | 6 | 0.12 | 1.95 | 203 | 0.0029 | 2.11 |
| p.Gly1073Asp | 3 | 3 IBS-D | 3 | 0.57 | 0.83 | 109 | 0.42 | 0.89 |
| p.Arg1124Ter | 1 | 1 IBS-D | 0 | – | – | 8 | 0.077 | 4.04 |
| p.Phe1745Cys | 4 | 1 IBS-D, 2 IBS-M, 1 IBS-U | 1 | 0.25 | 3.33 | 110 | 0.42 | 1.11 |
| Any mutation | 22 | 9 IBS-D, 7 IBS-M, 5 IBS-C, 1 IBS-U | 10 | 0.074 | 1.84 | 430 | 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.