Protein Z (rs3024735; G79A and rs3024719; G-103A) gene polymorphisms in Behçet’s disease patients

Aim of the work

To investigate protein Z (PZ) gene polymorphic variations; PZ G79A (rs3024735) and PZ G-103A (rs3024719) in Behçet's disease (BD) patients and their possible relation with disease manifestations, activity and damage.

Patients and methods

This study included 100 BD patients and 100 controls. BD current activity form (BDCAF) and the BD damage index (BDI) were assessed. Genomic DNA analysis of PZ G79A (rs3024735) and PZ G-103A (rs3024719) single nucleotide polymorphisms, was assessed by Real-time PCR-TaqMan SNP genotyping assay.

Results

The mean age of patients was 33.4 ± 6.8 years and median disease duration was 9 years. AA and GA genotypes of PZ G79A polymorphism were significantly higher in patients than controls (p = 0.003 and p = 0.004 respectively). The frequency of A allele was significantly higher in patients than controls (p < 0.001). There was no difference between patients and controls regarding AA and GA genotypes of PZ G-103A polymorphism (p = 0.5 and p = 0.2 respectively). There was a significant association between AA and GA genotypes of PZ G79A polymorphism with retinal vascular occlusion (RVO) (p < 0.001) and deep vein thrombosis (DVT) (p = 0.003), neutrophil–lymphocyte ratio (p < 0.001) and BDI (p < 0.001). There was no association between PZ G79A genotypes and BDCAF (p = 0.8). A allele of PZ G79A polymorphism was associated with increased BD susceptibility (p < 0.001), RVO (p = 0.001) and DVT (p = 0.01).

Conclusion

PZ G79A (rs3024735) polymorphism A allele was associated with increased susceptibility to BD with increased risk of developing RVO, DVT and damage, while AA and GA genotypes of PZ G-103A polymorphism were not significantly increased in BD patients.