This study aims: 1. To investigate the association between single nucleotide polymorphisms of PTPN22 gene (rs2476601, rs33996649 and rs2488457) and inflammatory bowel disease. 2. To correlate the relation between the studied SNPs and disease activity /response to therapy.

NCT04284878

Conditions

1. Inflammatory Bowel Diseases

Interventions

1. Genetic: PCR-RFLP

MeSH:Intestinal Diseases Inflammatory Bowel Diseases

HPO:Abnormal intestine morphology Inflammation of the large intestine

To investigate the association between single nucleotide polymorphisms of PTPN22 gene (rs2476601, rs33996649 and rs2488457) and inflammatory bowel disease.

Association between single nucleotide polymorphisms of Lymphoid Tyrosine Phosphatase gene (rs2476601, rs33996649 and rs2488457) and inflammatory bowel disease.

There are 24 exons in the gene (NCBI website).About 21 SNPs were found in PTPN22 gene (rs1310182, rs3789604, rs33996649, rs1217414, rs2476601, rs12760457, rs2488457,,,,etc).SNP rs2476601 (C1858>T) in exon 14 results in the substitution of arginine 620 with a tryptophan residue in the protein product (referred to as 620W variant) (Spalinger et al., 2016).

SNP rs2488457 (G -1123>C) is located in the promoter region (Chen et al., 2013).A transcription factor binding site for activator protein 4 (AP-4) at position -1123 is predicted in the presence of the G allele rather than the C allele (Jüliger et al., 2003).