Investigation of POU5F1 gene in sample of Egyptian patients with Behçet disease, pilot study

Background: Behcet's Disease (BD) is a polygenic immune-mediated disorder that involves the dysfunction of regulatory T cells and characterized by a close association with the HLA-B*51 allele. Familial aggregation of the disease has been reported. POU5F1 is a transcription factor which plays a key role in the early mammalian development and in lymphoid tissue differentiation. Recent GWAS studies have shown SNPs in the POU5F1 gene that might contribute to the susceptibility to autoimmune disorders as BD.Objectives: this pilot study was carried out to investigate POU5F1 gene in patients with BD.Methods: venous blood was collected from 40 patients diagnosed with BD and 20 healthy controls. DNA was extracted and Polymerase Chain Reaction was performed to amplify exon 3 and exon 4 of POU5F1 gene followed by DNA Sanger Sequencing.Results: The results showed detection of three SNPs in exon 3 including rs72856736, rs9501063 & rs3130932, and three SNPs in exon 4 including rs9263800, rs3130931 & rs72856737. rs9501063 had increased Allele (C) (P value = .03), and increased combined genotype (GC + CC) in BD patients compared to control (P value = .04). rs9263800 had increased Allele (A) in BD patients compared to control (P value = .04). 9 different haplotypes existed in our subjects. The GCAGTA & AGAGCG haplotypes were more distributed in patients (P value 0.01). the AGCGCG and GGAGCA haplotypes were more distributed in the control (P value < .001, P value = .03 respectively).Conclusions: POU5F1 gene need to be studied on a large number of patients to investigate its possibility of contribution to Behcet's disease susceptibility.