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Abstract
Objective: To find out the role of TREX1 and its variants in the genetic susceptibility to systemic lupus erythematosus (SLE) among Egyptian patients and to correlate the clinical manifestations and important laboratory data in SLE patients with the genetic testing. Results: Our work showed 28 patients with TREX1 polymorphism (c.531C>T) in a total of 50 SLE patients (56%), and in 18 out of 50 in the control group (36%) (p value=0.070). TREX1 polymorphism was present in 56% of SLE patients in group I, while in 36% of SLE cases in group II. The polymorphism was positively associated with neuropsychiatric manifestations and chilblains. There was a statistically significant value in cases with oral ulcers (p value=0.004), photosensitivity (p value=0.047) and seizures (p value=0.029). Conclusion: A recurrent polymorphism (c.531C>T) was found in higher frequency among Egyptian patients in comparison to control group especially in cases with NPSLE, seizures and chilblains; with minor allele frequency of 0.28 in cases and 0.18 in controls. Cases with positive consanguinity & family history showed higher frequency for TREX1 polymorphism, however with no statistical significant difference