LACC1 polymorphisms in inflammatory bowel disease and juvenile idiopathic arthritis.
G AssadiR SalehF HadizadehL VesterlundF BonfiglioJonas HalfvarsonL TörkvistA S ErikssonH E HarrisE SundbergM D'AmatoPublished in: Genes and immunity (2016)
The function of the Laccase domain-containing 1 (LACC1) gene is unknown, but genetic variation at this locus has been reported to consistently affect the risk of Crohn's disease (CD) and leprosy. Recently, a LACC1 missense mutation was found in patients suffering from monogenic forms of CD, but also systemic juvenile idiopathic arthritis. We tested the hypothesis that LACC1 single nucleotide polymorphisms (SNPs), in addition to CD, are associated with juvenile idiopathic arthritis (JIA, non-systemic), and another major form of inflammatory bowel disease, ulcerative colitis (UC). We selected 11 LACC1 tagging SNPs, and tested their effect on disease risk in 3855 Swedish individuals from three case-control cohorts of CD, UC and JIA. We detected false discovery rate corrected significant associations with individual markers in all three cohorts, thereby expanding previous results for CD also to UC and JIA. LACC1's link to several inflammatory diseases suggests a key role in the human immune system and justifies further characterization of its function(s).
Keyphrases
- juvenile idiopathic arthritis
- disease activity
- genome wide
- nk cells
- ulcerative colitis
- end stage renal disease
- endothelial cells
- small molecule
- case control
- systemic lupus erythematosus
- rheumatoid arthritis
- newly diagnosed
- ejection fraction
- dna methylation
- gene expression
- peritoneal dialysis
- autism spectrum disorder
- prognostic factors
- patient reported
- single cell
- induced pluripotent stem cells