Table 3

GWAS association signals for previously reported IBS risk genes

GeneSymptom and/or intermediate phenotypeBest p *SNPCDS size (bp)n SNPs in region
Totalp<0.05
ADRA2AIBS-D0.026rs5536683 87361
ADRA2CIBS-C0.31rs97144311 95810
C11orf30Colonic transit0.032rs1939467106 521334
CCKARIBS0.378rs9158899 025100
CDC42IBS-C0.010rs247332240 317226
CDH1PI-IBS0.21rs992508098 250500
CNR1IBS0.588rs80636726 18370
COMTIBS0.018rs933234828 236312
FAAHIBS-D, IBS-A, colonic transit in IBS-D0.086rs32441919 582150
GNB3IBS-D, IBS-C0.40rs37593477 183120
GPBAR1Colonic filling in IBS-D0.0037rs102036422 84561
HTR2AIBS0.023rs1706900565 535811
HTR3AIBS-D, amygdala responses, IBS severity0.082rs493806315 238170
HTR3EFemale IBS-D0.0099rs74322116 81753
IL10IBS0.080rs22222024 892140
IL1R1IBS0.00019rs3917265†37 0993011
IL23RIBS0.094rs751784793 482580
IL4IBS0.0052rs22432508 693117
IL6PI-IBS, IBS0.13rs20698374 856170
IL8IBS0.63rs22275433 21120
KLBColonic transit in IBS-D0.020rs1193384544 681317
NPSR1Colonic transit, sensory ratings0.018rs324389191 6941265
NXPH1IBS-D0.0016rs1981558319 0092387
ORMDL3Colonic transit0.36rs72241296 58980
PRDM1IBS, colonic transit0.066rs1049905023 620190
SCN5AIBS0.00054rs7432532‡101 6128926
SLC6A4IBS, IBS-C, IBS-D, colonic transit0.043rs807396541 650211
TLR9PI-IBS, IBS-D0.45rs18708410 15260
TNFIBS, PI-IBS0.014rs30936712 769141
TNFSF15IBS, IBS-C, IBS-D, IBS-A0.046rs786791821 494121
TPH1IBS0.20rs1048868320 252130
  • *For a region containing the coding sequence (CDS) + 2 kb each side.

  • †Contained in the chr:2 locus tagged by SNP rs12712124, which failed replication.

  • ‡Replicated in independent study.24

  • GWAS, genome-wide association study; SNP, single nucleotide polymorphism;

  • IBS-M, IBS mixed phenotype; IBS-C, constipation-predominant IBS; IBS-D, diarrhoea-predominant IBS; PI-IBS, post-infectious IBS; IBS-A, abdominal pain- predominant IBS; bp, base pair; Chr, chromosome.