Table 1.
Prevalence of SI-RPVs in IBS Patients and ExAC Reference Individuals
| SNP | Reference allele | RPV | Amino acid change | M-CAP score | CADD score | SI-RPV carriers | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
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| IBS (N = 2207) | IBS-C (N = 598) | IBS-D (N = 952) | IBS-M (N = 503) | IBS-U (N = 154) | ExAC (N = 33,370) | ||||||
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| N (%) | N (%) | N (%) | N (%) | N (%) | N (%) | ||||||
| rs200745562 | G | A | p.Arg250Cys | 0.152 | 3 (0.14) | 1 (0.17) | 2 (0.21) | — | — | 15 (0.04) | |
| rs77546399 | G | A | p.Pro348Leu | 0.417 | 12 (0.54) | 4 (0.67) | 6 (0.63) | 1 (0.20) | 1 (0.65) | 149 (0.45) | |
| rs138434001 | C | T | p.Val371Met | 0.412 | 8 (0.36) | 2 (0.33) | 1 (0.11) | 4 (0.80) | 1 (0.65) | 153 (0.46) | |
| rs142789249 | T | C | p.Glu640Gly | 0.039 | 2 (0.09) | 1 (0.17) | 1 (0.11) | — | — | 18 (0.05) | |
| rs188320908 | A | T | p.Val717Asp | 0.308 | 1 (0.05) | 1 (0.17) | — | — | — | 7 (0.02) | |
| rs147207752 | T | C | p.Arg774Gly | 0.113 | 10 (0.45) | 5 (0.84) | 4 (0.42) | 1 (0.20) | — | 79 (0.24) | |
| rs140230726 | A | G | p.Tyr867His | 0.142 | 1 (0.05) | — | — | 1 (0.20) | — | 14 (0.04) | |
| rs146785675 | A | G | p.Tyr975His | 26.6 | 36 (1.63) | 13 (2.17) | 17 (1.79) | 4 (0.80) | 2 (1.30) | 382 (1.14) | |
| rs200451408 | G | A | p.Arg1124Stop | 37 | 1 (0.05) | — | 1 (0.11) | — | — | 8 (0.02) | |
| rs78013297 | G | A | p.Pro1200Ser | 0.389 | 1 (0.05) | — | 1 (0.11) | — | — | 1 (0.003) | |
| rs143388292 | T | C | p.Arg1367Gly | 0.17 | 2 (0.09) | — | 2 (0.21) | — | — | 28 (0.08) | |
| rs145734588 | C | T | p.Glu1414Lys | 0.075 | 3 (0.14) | — | 1 (0.11) | 2 (0.40) | — | 8 (0.02) | |
| rs142090504 | A | C | p.Tyr1417Stop | 36 | 1 (0.05) | — | — | — | 1 (0.65) | 6 (0.02) | |
| rs145246112 | C | T | p.Arg1484His | 0.293 | 1 (0.05) | — | — | — | 1 (0.65) | 19 (0.06) | |
| rs149414344 | A | C | p.Phe1625Val | 0.057 | 1 (0.05) | — | 1 (0.11) | — | — | 1 (0.003) | |
| rs142018224 | C | G | p.Val1667Leu | 0.032 | 2 (0.09) | — | 1 (0.11) | 1 (0.20) | — | 20 (0.06) | |
| rs145556619 | C | A | p.Gly1760Val | 0.204 | 3 (0.14) | — | 2 (0.21) | 1 (0.20) | — | 20 (0.06) | |
| Total | 88 (3.99) | 27 (4.51) | 40 (4.20) | 15 (2.98) | 6 (3.90) | 928 (2.78) | |||||
| P value | .00049 | .0055 | .0045 | .39 | .21 | ||||||
| Odds ratio (95% confidence interval) | 1.45 (1.16–1.81) | 1.65 (1.12–2.44) | 1.53 (1.11–2.12) | 1.07 (0.64–1.80) | 0.71 (0.31–1.60) | ||||||
CADD, Combined Annotation Dependent Depletion; ExAC, Exome Aggregation Consortium; IBS, irritable bowel syndrome; IBS-C, IBS with constipation; IBS-D, IBS with diarrhea; IBS-M, IBS with alternating constipation and diarrhea; IBS-U, unsubtyped IBS; M-CAP, Mendelian Clinically Applicable Pathogenicity; SI-RPV, sucrase-isomaltase rare pathogenic variants; SNP, single nucleotide polymorphism.