000 02729cam a2200349 a 4500
003 EG-GiCUC
005 20250223031343.0
008 151128s2015 ua dh f m 000 0 eng d
040 _aEG-GiCUC
_beng
_cEG-GiCUC
041 0 _aeng
049 _aDeposite
097 _aM.Sc
099 _aCai01.11.32.M.Sc.2015.Di.G
100 0 _aDina Abdelrahman Ibrahim Eldessouki
245 1 0 _aGenetic study of three-prime repair exonuclease (trex1) in the susceptibility to systemic lupus erythematosus (SLE) among Egyptian patients /
_cDina Abdelrahman Ibrahim Eldessouki ; Supervised Geilan Abdelmoneim Mahmoud , Ghada Mohamed Elhossainy Abdelsalam , Marwa Hassan Niazy
246 1 5 _aدراسة وراثية توضح دور تريكس1فى قابلية التأثير لمرض الذئبة الحمراء بين المرضى المصريين
260 _aCairo :
_bDina Abdelrahman Ibrahim Eldessouki ,
_c2015
300 _a146 P. :
_bcharts , facsimiles ;
_c25cm
502 _aThesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Rheumatology and Rehabilitation
520 _aObjective: 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
530 _aIssued also as CD
653 4 _aPolymorphism
653 4 _aSLE
653 4 _aTREX1
700 0 _aGeilan Abdelmoneim Mahmoud ,
_eSupervisor
700 0 _aGhada Mohamed Elhossainy Abdelsalam ,
_eSupervisor
700 0 _aMarwa Hassan Niazy ,
_eSupervisor
856 _uhttp://172.23.153.220/th.pdf
905 _aNazla
_eRevisor
905 _aSoheir
_eCataloger
942 _2ddc
_cTH
999 _c53572
_d53572