TY  - BOOK
AU  - Dina Abdelrahman Ibrahim Eldessouki 
AU  - Geilan Abdelmoneim Mahmoud , 
AU  - Ghada Mohamed Elhossainy Abdelsalam , 
AU  - Marwa Hassan Niazy , 
TI  - Genetic study of three-prime repair exonuclease (trex1) in the susceptibility to systemic lupus erythematosus (SLE) among Egyptian patients / 
PY  - 2015///
CY  - Cairo : 
PB  - Dina Abdelrahman Ibrahim Eldessouki , 
KW  - Polymorphism
KW  - SLE
KW  - TREX1
N1  - Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Rheumatology and Rehabilitation; Issued also as CD
N2  - 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
UR  - http://172.23.153.220/th.pdf
ER  -