Polymorphisms in CLEC5A and CLEC7A genes modify risk for inflammatory bowel disease.

Background: Inflammatory bowel disease (IBD) seems to arise from an interplay between genetic and environmental factors. CLEC5A and CLEC7A genes code for 2 members of the C-type lectin receptor superfamily, which participate in the immune response against various pathogens, mediating inflammatory signaling. CLEC5A polymorphisms have been linked to the risk of Crohn's disease (CD), whereas CLEC7A has been implicated in fungal dysbiosis, chemically induced colitis in mice and undertreated ulcerative colitis (UC) in humans. This study aimed to explore how specific CLEC5A and CLEC7A polymorphisms contribute to the development of CD and UC.

Methods: One hundred twelve CD patients, 94 UC patients and 164 sex- and age- matched healthy individuals were genotyped for the single nucleotide polymorphisms rs2078178 and rs16910631 of the CLEC7A gene, and rs1285933 of the CLEC5A gene.

Results: The CLEC7A rs2078178 AA genotype was more frequent in UC patients compared to healthy individuals, The CLEC7A rs16910631 CT genotype was significantly associated with UC risk compared to healthy individuals, while there was no statistical correlation with CD. The CLEC5A rs1285933 GA genotype was found to be protective against UC and CD, and the AA genotype against CD. Carriers of the rs1285933 A allele appeared to have reduced susceptibility to CD, implying that the presence of the A allele could be protective against CD development.

Conclusions: This is the first study to correlate the CLEC5A rs1285933 polymorphism with the risk for UC. The rs2078178 AA genotype and the CLEC7A rs16910631 CT could be promising biomarkers for UC susceptibility.