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Genetic variants of PTPN22 in IBD:Only 14 pages are availabe for public view
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Abstract
This case-control study was conducted to investigate the association between PTPN22 gene polymorphisms and inflammatory bowel disease in Egyptians. The study included:
• Ninety Egyptian patients diagnosed as inflammatory bowel disease (71 Ulcerative colitis, 19 Crohn’s) were recruited from outpatient department of El-Raghey Liver Hospital, Assiut University, Egypt during the period from September 2021 till march 2022. Their ages ranged from 18 to 71 years. They included 35 male patients and 55 female patients. The diagnosis was determined according to established ECCO Guidelines (Gionchetti et al., 2017; Gomollón et al., 2017). Phenotype characteristics of UC and CD was defined according to the Montreal classification (Silverberg et al., 2005). The clinical disease activity was assessed using Mayo scoring system of UC disease activity (Schroeder et al., 1987) and Crohn’s Disease Activity Index (CDAI) for CD (Best et al., 1979).
Exclusion criteria:
Patients with systemic autoimmune diseases (RA, SLE) were excluded from the study.
• Eighty one apparently healthy individuals were included in this study as the control group, they were age and sex matched to study subjects. Their ages ranged from 18 to 64 years. They included 38 males and 43 females.
The following laboratory investigations were done (for IBD patients and control subjects):
• Complete blood count.
• Erythrocyte sedimentation rate and Reticulocytic count.
• Kidney function tests.
• liver function tests.
• Iron and Ferritin level.
• Stool Culture.
• C-Reactive Protein and Rheumatoid Factor.
• Antinuclear antibody.
• Antineutrophil Cytoplasmic Antibody.
• Anti- Saccharomyces Cerevisiae ASCA IgA & IgG.
• Genomic DNA extraction from blood samples and gene polymorphism studies as follows:
1- PTPN22 -1123 G/C (rs2488457) genotype analysis by PCR- RFLP
2- PTPN22 +788 G/A (rs33996649) genotype analysis by PCR- RFLP.
3- PTPN22 +1858 C/T (rs2476601) genotype analysis by PCR-RFLP.