Published online May 14, 2020. doi: 10.3748/wjg.v26.i18.2194
Peer-review started: February 4, 2020
First decision: March 21, 2020
Revised: April 13, 2020
Accepted: April 29, 2020
Article in press: April 29, 2020
Published online: May 14, 2020
Crohn’s disease (CD) is characterized by a multifactorial etiology and a significant impact of genetic traits. While NOD2 mutations represent well established risk factors of CD, the role of other genes is incompletely understood.
A better knowledge of the molecular basis of CD is considered as an essential prerequisite for a further improvement of diagnostics and therapy.
Previous studies from our laboratory have pointed to a possible link between CD and the expression of pattern recognition receptors of the C-type lectin domain family (specifically, CLEC5A) in peripheral blood mononuclear cells (PBMC). This observation prompted us to ask if single nucleotide polymorphisms in the genes CLEC5A and CLEC7A might be associated with the disease.
DNA samples from patients with CD and healthy donors were subjected to the analysis of single nucleotide polymorphisms in the genes CLEC5A, CLEC7A and NOD2. For studies on gene expression, PBMC from subgroups of both cohorts were employed. Molecular findings were correlated with clinical characteristics of the patients.
For genotype AA of rs1285933 in CLEC5A, a potential association with CD and an increased odds ratio were detected. As expected, risk variants of NOD2 were associated with an increased occurrence of CD as well. Polymorphisms of rs1285933 correlated with CXCL5 gene expression but had no effect on CLEC5A expression in PBMC.
SNP rs1285933 in CLEC5A may represent a novel genetic association of CD. The finding, however, needs to be reproduced in multicenter studies with larger numbers of CD patients.
Pattern recognition receptors of the C-type lectin domain family deserve further attention regarding their potential role in the pathogenesis of CD and their relevance as diagnostic markers and therapeutic targets.