Table 2.
Variants associated with IBS, their effect measured in the discovery cohort and P values for association in the discovery cohort, the replication cohort and the meta-analysis of these two
| Variant | Effect (discovery) | P values | Annotation | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP | Chromosome number | Position | Alleles | Frequency | OR | 95% CI | Discovery | Replication | Meta-analysis | Mapped gene | Previously implicated in |
| rs1248825 | 3 | 84,993,411 | C/A | 0.33 | 1.05 | 1.03–1.07 | 1.20 × 10−9 | 4.90 × 10−8 | 7.48 × 10−15 | CADM2 | Personality traits (risk-taking, neuroticism, anxiety)21, cannabis use22 |
| rs2736155 | 6 | 31,605,199 | G/C | 0.48 | 1.05 | 1.02–1.07 | 3.88 × 10−10 | 8.28 × 10−6 | 3.19 × 10−12 | BAG6 | |
| rs10156602 | 9 | 96,345,328 | G/A | 0.63 | 1.04 | 1.02–1.06 | 4.36 × 10−9 | 1.18 × 10−8 | 3.04 × 10−15 | PHF2, FAM120AOS | Neuroticism23, depression23, autism24 |
| rs7106434 | 11 | 112,860,579 | C/T | 0.41 | 1.04 | 1.02–1.06 | 3.19 × 10−8 | 2.27 × 10−5 | 9.17 × 10−11 | NCAM1 | Neuroticism23, depression25, cannabis use22, anorexia nervosa40 |
| rs5803650 | 13 | 53,939,598 | CT/C | 0.48 | 1.05 | 1.03–1.07 | 2.97 × 10−8 | 2.25 × 10−8 | 6.31 × 10−14 | CKAP2, TPTE2P3 | |
| rs9513519 | 13 | 99,610,146 | G/A | 0.62 | 1.04 | 1.02–1.06 | 3.09 × 10−8 | 4.20 × 10−5 | 2.31 × 10−10 | DOCK9 | |
The reported frequencies and effects are those of the second allele. The second allele is defined such that it increases IBS risk. Allele frequencies are taken from UKB. Previous associations were obtained from the literature and GWAS Catalog (Supplementary Note).