Fathy, A., Hassan, ,., El Chennawi, F., Shahin, D., Mosaad, Y. (2023). UGT1A9 Gene Polymorphism in Egyptian Systemic Lupus Patients Receiving Mycophenolate Mofetil. The Egyptian Journal of Hospital Medicine, 90(1), 24-30. doi: 10.21608/ejhm.2023.279025
Amr Mohamed. Fathy; , Ahmed Shawky Hassan; Farha Abdel Aziz El Chennawi; Dina Abd El-Halim Shahin; Youssef Mohamed Mosaad. "UGT1A9 Gene Polymorphism in Egyptian Systemic Lupus Patients Receiving Mycophenolate Mofetil". The Egyptian Journal of Hospital Medicine, 90, 1, 2023, 24-30. doi: 10.21608/ejhm.2023.279025
Fathy, A., Hassan, ,., El Chennawi, F., Shahin, D., Mosaad, Y. (2023). 'UGT1A9 Gene Polymorphism in Egyptian Systemic Lupus Patients Receiving Mycophenolate Mofetil', The Egyptian Journal of Hospital Medicine, 90(1), pp. 24-30. doi: 10.21608/ejhm.2023.279025
Fathy, A., Hassan, ,., El Chennawi, F., Shahin, D., Mosaad, Y. UGT1A9 Gene Polymorphism in Egyptian Systemic Lupus Patients Receiving Mycophenolate Mofetil. The Egyptian Journal of Hospital Medicine, 2023; 90(1): 24-30. doi: 10.21608/ejhm.2023.279025
11Clinical Immunology Unit, Clinical Pathology Department
22 Department of Internal Medicine, Rheumatology and Immunology Mansoura Faculty of Medicine, Mansoura University, Dakahlia, Egypt.
Abstract
Background: Mycophenolic acid (MPA), an efficient immunosuppressive medication used in SLE, is glucuronidated by UGTs into an inert 7-O-glucuronide. Studies have shown that the -275T>A and-2152C>T SNPs in the UGT1A9 promoter region are associated with greater hepatic production of UGT1A9 and higher MPA in vitro glucuronidation activity. Subjects and Methods: patients were selected from outpatient Clinics of Rheumatology and immunology department, UGT1A9 -275T>A and-2152C>T (SNPs) were genotyped in 50 SLE Egyptian patients and 100 healthy controls using PCR-RFLP. In addition, MPA serum concentrations were measured in patients by homogeneous particle enhanced turbidimetric inhibition immunoassay (PETINIA) technique. Results: UGT1A9-2152C>T and -275T>A distribution of genotypic analysis in SLE patients and controls revealed that the -2152C>T mutation is present in 14% patients and 21% of the control group (P = 0.3), whereas the -275T>A mutation is present in 50% of patients and only in 11% of the control group (P = 0.001). In comparison to the (TT) genotype, the combined (TA+AA) genotype exhibited significant correlation with greater GIT symptoms (68% versus 5%, respectively, P = 0.001). In SLE patients taking MPA with CT+TT genotype against CC genotype, -2152C>T mutations revealed a higher incidence of anemia (85.7% versus%, 30.2 respectively P =0.009). Both SNP genotype carriers had statistically lower C0 MPA values compared to non-carriers (1.25 umol/L (0.62-7.8) versus 4.68 umol/L (0.62-25.9), P = 0.028. Conclusion: Carrier of both UGT1A9-2152C>T and -275T>A SNPS is associated with lower C0 MPA in comparison to non-carrier in Egyptian SLE patients.
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