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.
To challenge the hypothesis that single nucleotide polymorphisms (SNPs) in the genes CLEC5A and CLEC7A, two members of the C-type lectin domain family of pattern recognition receptors, may be associated with CD.
SNPs in CLEC5A, CLEC7A and the known CD risk gene NOD2 were studied using real time PCR-based SNP assays. Therefore, DNA samples from 175 patients and 157 healthy donors were employed. Genotyping data were correlated with clinical characteristics of the patients and the results of gene expression data analyses.
In accordance with previous studies, rs2066844 and rs2066847 in NOD2 were found to be significantly associated with CD (allelic P values = 0.0368 and 0.0474, respectively). Intriguingly, for genotype AA of rs1285933 in CLEC5A, a potential association with CD (recessive P = 0.0523; odds ratio = 1.90) was observed. There were no associations between CD and SNPs rs2078178 and rs16910631 in CLEC7A. Variants of rs1285933 had no impact on CLEC5A gene expression. In contrast, genotype-dependent differences of CXCL5 expression in peripheral blood mononuclear cells were observed. There is no statistical interaction between the tested SNPs of NOD2 and CLEC5A, suggesting of a novel pathway contributing to the disease.
Our data encourage enlarged follow-up studies to further address an association of SNP rs1285933 in CLEC5A with CD. The C-type lectin domain family member also deserves attention regarding a potential role in the pathophysiology of CD.
Core tip: The genetic traits of Crohn’s disease (CD) are incompletely understood. Here, we report a potential association of single nucleotide polymorphism (SNP) rs1285933 in CLEC5A, a member of the C-type lectin domain family of pattern recognition receptors, with CD. Variants of SNP rs1285933 had no impact on CLEC5A gene expression in peripheral blood mononuclear cells but correlated with the expression of CXCL5. The SNPs rs2078178 and rs16910631 in CLEC7A were not associated with the disease. The role of CLEC5A in the pathophysiology of CD deserves further attention.