Methylation Status of Alu and LINE-1 Interspersed Repetitive Sequences in Behcet’s Disease Patients

الملخص EN

Behcet’s Disease (BD) is a multisystem chronic inflammatory disease.

The pathology is believed to involve both genetic susceptibility and environmental factors.

Hypomethylation leading to activation of interspersed repetitive sequences (IRSs) such as LINE-1 and Alu contributes to the pathologies of autoimmune diseases and cancer.

Herein, the epigenetic changes of IRSs in BD were evaluated using combined bisulfite restriction analysis-interspersed repetitive sequences (COBRA-IRS).

DNA from neutrophils and peripheral blood mononuclear cells (PBMCs) of BD patients with ocular involvement that were in active or inactive states and healthy controls were used to analyze LINE-1 and Alu methylation levels.

For Alu sequences, significant differences were observed in the frequency of C u C u alleles between PBMCs of patients and controls ( p = 0.03 ), and between inactive patients and controls ( p = 0.03 ).

For neutrophils, the frequency of C u C u was significantly higher between patients and controls ( p = 0.006 ) and between inactive patients and controls ( p = 0.002 ).

The partial methylation ( C u C m + C m C u ) frequencies of Alu between inactive patients and control samples also differed ( p = 0.02 ).

No statistically significant differences for LINE-1 were detected.

Thus, changes in the methylation level of IRS elements might contribute to the pathogenesis of BD.

The role of Alu transcripts in BD should be investigated further.