The Polymorphism rs3024505 (C/T) Downstream of the <i>IL10 </i>Gene Is Associated with Crohn’s Disease in Serbian Patients with Inflammatory Bowel Disease

Abstract

Inflammatory bowel disease (IBD), manifesting as Crohn's disease (CD) and ulcerative colitis (UC), is characterized by recurring episodes of inflammation in gastrointestinal tract, in which aberrant production of regulatory cytokine interleukin-10 (IL-10) presumably plays important role. Single nucleotide polymorphisms (SNPs) that affect IL-10 production, such as rs1800896 (G/A) at position -1082 and rs1800871 (C/T) at position -819 in the promoter region of the IL10 gene, have been associated with CD and/or UC, but the results were inconsistent. Another SNP that may alter IL-10 production, rs3024505 (C/ T) located immediately downstream of the IL10 gene has been recently identified. T allele of rs3024505 was associated with both UC and CD in Western populations, but the studies from East European countries are lacking. Therefore, our aim was to assess the association of rs3024505, rs1800896 and rs1800871 with Serbian IBD patients. To this end, 107 CD and 99 UC patients and 255 healthy controls were genotyped. As a result, T allele of rs3024505 was associated with CD at allelic, genotypic (GT genotype) and haplotypic (GCCT haplotype) level, suggesting potential role of this variant in susceptibility to CD. In contrast, CD patients carrying C allele of rs3024505 had significantly increased risk of anemia and stricturing/penetrating behavior. No association was observed between rs3024505 and UC or SNPs in IL10 promoter region and any form of IBD. In conclusion, rs3024505 SNP flanking the IL10 gene is associated with susceptibility and severity of disease in Serbian CD patients, further validating its role as a potential biomarker in IBD.

Association of IL-10 gene promoter polymorphisms with susceptibility to pseudoexfoliation syndrome, pseudoexfoliative and primary open-angle glaucoma

“…These SNPs control the transcription of IL-10 mRNA and IL-10 protein expression in vitro [13]. To date, several studies have exhibited associations between -592C/A, −819C/T and -1082A/G promoter SNPs with susceptibility to aging [14], risk of cancer [15][16][17], schizophrenia [18], Alzheimer's disease [19][20][21][22][23], acute myocardial infarction (AMI) [24] and inflammatory bowel disease (IBD) [25]. Researchers have indicated that IL-10 -592C/A and -819C/T SNPs can be predictive factors for the pathogenesis of POAG in the Chinese population [26].…”

Cytokine Gene Polymorphisms in Patients with Chronic Inflammatory Demyelinating Polyneuropathy

“…In addition, the genotypes for IL10 rs1800872 were inferred from the SNP rs1800871 because these two SNPs are in complete linkage disequilibrium in Caucasians [ 31 , 32 ]. The whole process was explained in detail in our previous publications [ 31 , 33 , 34 ]. Analysis was performed in 88 CIDP patients and 486 healthy control subjects (HC) for the majority of the analyzed SNPs.…”

IL-23 Contributes to Campylobacter jejuni-Induced Intestinal Pathology via Promoting IL-17 and IFNγ Responses by Innate Lymphoid Cells

“…Accumulating evidence suggests that C. jejuni infection can contribute to pathogenesis of IBD, however C. jejuni-mediated pathogenic immune mechanisms remain poorly understood (7,8). Genome-wide association studies revealed SNP in IL23R and IL10 genes, providing evidence for the important role of the IL-23 and IL-10 signaling pathways in the pathogenesis of IBD (64)(65)(66). T cells, monocytes, macrophages and DCs are major sources of IL-10 (67).…”