Reumatologia: pesquisas atuais
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HLADRB1 Gene is Highly Mutated in Omani Patients Affected with Rheumatoid Arthritis

Buthaina Al-Hudar, Aziza Al-Busaidi, Ishita Gupta, Batool Hassan and Yahya Tamimi

Objectives: Rheumatoid Arthritis (RA) is a multifactorial autoimmune disease affecting synovial joints, surrounding tissues, and many other organs of the human body. HLA-DRB1 has a major role in the immune system by presenting peptides derived from extracellular proteins on antigen presenting cells and has been associated with RA. In this study, we screened for HLA-DRB1 mutations in Omani patients affected with RA.

Methods: Thirty blood samples from affected patients were examined in parallel with fourteen healthy control samples. HLA-DRB1 mutational status was examined using polymerase chain reaction (PCR) and sequencing.

Results: A total of 75 aberrations were identified in HLA-DRB1, of which 20% were polymorphisms. From the reported aberrations, 25.5% were silent mutations. Within exon-2, three non-synonymous mutations were predicted to have deleterious effects on protein function. Moreover, six deletions and three insertions were found in 12% of the cases, resulting in significant loss of amino acid information.

Conclusion: The HLA-DRB1 gene is highly damaged in Omani rheumatoid arthritis patients. Novel mutations have been identified and further analysis is required to test the significance of such mutations.