Table 4.
Rome III IBS Risk Loci Identified Via GWAS Meta-analyses
| CHR | Lead SNP | Start–end (BP) | EA | OA | EAF | GWAS |
Credible Variants, n |
Gene mapping | Novel risk locus | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IBS subtype | OR (95% CI) | P value | OR in individual cohorts (UKBB/LL) | P-Het | |||||||||
| 5 | rs6899057 | 7188657–7257239 | T | C | 0.36 | IBS | 1.07 (1.04–1.09) | 2.0E-08 | 1.07/1.03 | 0.40 | 41 | ADCY2e | x |
| IBS-M | 1.09 (1.05–1.12) | 2.3E-08 | 1.08/1.09 | 0.97 | |||||||||
| 8 | rs2048419 | 8524474–8730488 | A | G | 0.53 | IBS-M | 1.08 (1.05–1.11) | 4.4E-08 | 1.08/1.03 | 0.34 | 77 |
CLDN23e ERI1e MFHAS1p,e PPP1R3Be TNKSe |
✓ |
| 11 | rs2035380 | 13267867–13346294 | T | C | 0.30 | IBS | 1.07 (1.04–1.09) | 3.1E-08 | 1.07/1.04 | 0.46 | 99 | BMAL1p,e | ✓ |
| 13 | rs9517497 | 99594682–99612588 | T | C | 0.63 | IBS | 1.07 (1.04–1.09) | 2.3E-08 | 1.06/1.09 | 0.48 | 20 | DOCK9p,e | x |
BP, base-pair position (genome build hg19); CHR, chromosome; CI, confidence interval; EA, effect allele; EAF, effect allele frequency; GWAS, genome-wide association study; IBS, irritable bowel syndrome; IBS-M, irritable bowel syndrome mixed subtype; LL, Lifelines; OA, other allele; OR, odds ratio; SNP, single-nucleotide polymorphism; UKBB, UK Biobank.
OR in individual cohorts: magnitude of mean effects described to the risk allele in UKBB and LL individual GWAS; P-Het: Cochran's Q statistics P value for heterogeneity across individual GWAS; Number of credible variants: number of markers in each fine-mapped credible set per risk locus; Gene mapping: genes mapped to the locus, based on FUMA positional (p) or cis-eQTL (e) analyses. The best candidate genes at each locus are highlighted in bold.