Table 2.
Genetic variants associated with PSC risk in patients with UC
| Genetic variants: (minor/major allele) position (GRCh38.p13) Candidate gene |
Discovery cohort: MAF (UC-PSC/UC) Allelic OR (95 CI) |
Replicate cohort: MAF (UC-PSC/UC) Allelic OR (95 CI) |
Combined: MAF (UC-PSC/UC) Allelic OR (95 CI) |
Logistic regression Univariate OR (95 CI)a |
Logistic regression Multivariate OR (95% CI)b |
| rs3131621 (G/A) chr06: 31,457,722 |
0.35 (0.55/0.32) 2.60 (1.67–4.04) P = 1.44E-05 |
0.33 (0.64/0.31) 3.81 (1.56–9.33) P = 0.001 |
0.34 (0.57/0.32) 2.81 (1.90–4.16) P = 1.03E-07 |
2.77 (1.86–4.14) P = 1.75E-07 |
2.00 (1.26–3.18) P = 0.002 |
| rs9275596 (C/T) chr06: 32,713,854 |
0.41 (0.66/0.37) 3.31 (2.09–5.24) P = 1.15E-07 |
0.34 (0.59/0.32) 3.03 (1.26–7.28) P = 0.009 |
0.39 (0.65/0.35) 3.36 (2.24–5.04) P = 8.75E-10 |
3.24 (2.15–4.89) P = 2.70E-09 |
2.17 (1.35–3.49) P = 0.001 |
| rs11244 (A/G) chr06: 32,812,947 |
0.30 (0.55/0.27) 3.36 (2.15–5.24) P = 2.84E-08 |
0.30 (0.55/0.28) 3.04 (1.28–7.24) P = 0.008 |
0.30 (0.55/0.27) 3.26 (2.20–4.83) P = 8.64E-10 |
3.15 (2.11–4.71) P = 2.48E-09 |
2.29 (1.42–3.68) P = 0.0005 |
GRCh38, Genome Reference Consortium Build 38; NA, not available; OR, odds ratio; PSC, primary sclerosing cholangitis; SNP ID, single-nucleotide polymorphism identification; UC, ulcerative colitis; MAF, minor allele frequency.
a
Additive genetic mode.
b
Multivariate analysis included age at UC, diagnosis, disease duration, ever smoking, extensive disease (pancolitis), the first 3 PCs (for population stratification), and the identified 3 variants (rs3131621, rs9275596, and rs11244).