Table 2 Most significantly enriched Gene Ontology (GO)-biological processes in the set of genetic risk loci shared between systemic sclerosis and Crohn’s disease.

From: A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease

Biological pathway

GO term

p-value*

Count in gene set

Shared genes involved

Interleukin-35-mediated signaling pathway

GO:0070757

1.44E-05

3 of 11

STAT4, STAT3, IL12RB2

Interleukin-23-mediated signaling pathway

GO:0038155

1.44E-05

3 of 9

STAT4, STAT3, TYK2

Cytokine-mediated signaling pathway

GO:0019221

6.16E-05

6 of 655

STAT4, STAT3, IL12RB2, TYK2, IRF1, IRF8

Interleukin-12-mediated signaling pathway

GO:0035722

3.20E-04

3 of 47

STAT4, IL12RB2, TYK2

Type I interferon signaling pathway

GO:0060337

3.60E-04

3 of 65

TYK2, IRF1, IRF8

Interleukin-21-mediated signaling pathway

GO:0038114

6.00E-04

2 of 8

STAT4, STAT3

Interleukin-27-mediated signaling pathway

GO:0070106

8.30E-04

2 of 11

STAT3, TYK2

Positive regulation of transcription by RNA polymerase II

GO:0045944

4.90E-03

5 of 1104

STAT4, STAT3, IRF1, IRF8, IKZF3

Positive regulation of interleukin-12 production

GO:0032735

5.90E-03

2 of 34

IRF1, IRF8

Receptor signaling pathway via JAK-STAT

GO:0007259

7.90E-03

2 of 41

STAT4, STAT3

Alpha-beta T cell differentiation

GO:0046632

9.70E-03

2 of 50

STAT3, IRF1

  1. *p-values determined by binomial statistic test and adjusted by false discovery rate correction.
  2. New loci shared between systemic sclerosis and Crohn’s disease are in bold.