Background: Self-immunization in systemic lupus is driven by defective in apoptosis. Fas, is an apoptosis-promoting cell surface receptor. The present study evaluate the possible association between APO-1/FAS Promoter...Background: Self-immunization in systemic lupus is driven by defective in apoptosis. Fas, is an apoptosis-promoting cell surface receptor. The present study evaluate the possible association between APO-1/FAS Promoter (-670A/G) Polymorphism and sFAS level with susceptibility to lupus nephritis in SLE patients. Design and Methods: This study was performed on 88 female patients with SLE (mean age, 39.82 ± 10.16 years). 82 patients with lupus nephritis (mean age, 42.50 ± 6.65 years). 150 age and sex-matched person served as controls. All participants were genotyped for the APO-1/FAS Promoter (-670A/G) Polymorphism, manifestations and serum sFAS were correlated with the genotypes. Results: Serum sFAS was significantly higher in patients with -670 AA genotype compared to others. (-670A/G) AA genotype frequencies were significantly higher in the lupus nephritis and SLE patients groups compared with the controls and were associated with increased risk for lupus nephritis and SLE development (odds ratio, 4.08 and 1.91 respectively). Conclusions: The APO-1/FAS Promoter (-670A/G) A allele can be used as a genetic marker for lupus nephritis susceptibility in SLE and was associated with high sFAS level.展开更多
BACKGROUND:Hepatitis C virus (HCV) infection is thought to be chronic and the factors leading to viral clearance or persistence are poorly understood.This study was undertaken to investigate the possibility of a signi...BACKGROUND:Hepatitis C virus (HCV) infection is thought to be chronic and the factors leading to viral clearance or persistence are poorly understood.This study was undertaken to investigate the possibility of a significant relationship between the spontaneous clearance or the persistence of hepatitis C virus (HCV) infection and cytokine and apoptosis gene polymorphisms in Tunisian patients on hemodialysis.METHODS:Polymorphisms of the genes IL-1 (-889 IL-1α,-511 and +3954 IL-1β,IL-1Ra),IL-18 (-137 and-607),IL-12 (-1188) and Apo1/Fas (-670) were determined by PCR-RFLP,PCR-SSP and PCR-VNTR in 100 healthy blood donors and 100 patients infected with HCV and undergoing hemodialysis.The patients were classified into two groups:G1 consisted of 76 active chronic hepatitis patients (positive for HCV RNA) and G2 consisted of 24 hemodialysed patients who spontaneously eliminated the virus (negative for HCV RNA).RESULTS:The frequency of genotype association [-137GC/-607CA] IL-18 was higher in G2 (41.7%) than in G1 (15.8%) (P=0.008;OR=0.26;95% CI,0.10-0.73).We also found a higher frequency of the AA genotype of the Apo1/Fas gene in G2 (41.6%) than in G1 (17.5%) (P=0.026;OR=3.49;95% CI,1.13-10.69).Adjustment for known covariate factors (age,gender and genotype) confirmed these univariate findings and revealed that the genotype association GC-CA of the (-137 and-607) IL-18 gene and the AA genotype of the Apo1/Fas gene were associated with the clearance of HCV (P=0.041 and 0.017,respectively).CONCLUSION:The two genotypes GC-CA of the (-137 and-607) IL-18 polymorphism and the AA genotype of the Apo1/Fas gene influence the outcome of HCV infection in Tunisian patients on hemodialysis.展开更多
Objective: To analyze the distribution characteristics and clinical significance of SLCO1B1 and ApoE gene polymorphisms of the Li people in Hainan Island. Method: Selecting 502 high school students of the Li people fr...Objective: To analyze the distribution characteristics and clinical significance of SLCO1B1 and ApoE gene polymorphisms of the Li people in Hainan Island. Method: Selecting 502 high school students of the Li people from five cities and counties in Hainan Island (namely, Qiongzhong County, Dongfang City, Ledong County, Baoting County and Wuzhishan City) as research subjects in September, 2019;Applying PCR-fluorescence probe method to detect SLCO1B1 and ApoE genotypes of the Li people in Hainan Island, and statistically analyzing the distribution characteristics of gene frequency and the distribution differences in gene polymorphisms between different genders. Meanwhile, detecting the SLCO1B1 and ApoE gene of 527 people from the Han people in five regions mentioned before, so as to analyze the distribution differences of the SLCO1B1 and ApoE gene between the Han people and the Li people. Results: The frequency of each genotype of SLCO1B1 in the Li people in Hainan Island is: *1a/*1a 6.77%, *1a/*1b 27.09%, *1b/1b 41.63%, *1a/*5 0.00%, *1a/*15 4.78%, *1b/15 16.93%., *5/*5 0.00%, *5/*15 0.00%, *15/*15 2.79%;And that of ApoE is: e2/e2 0.40%, e2/e3 17.73%, e2/e4 2.39%, e3/e3 65.54%, e3/e4 12.55%, e4/e4 1.39%. There is no significant difference (P > 0.05) in other genotypes except weak metabolic genotypes (*5/*5, *5/*15 and *15/*15) between the Han and the Li peoples. Conclusion: The gene frequency of SLCO1B1 weak metabolic genotype is dramatically higher in the Li people of Hainan Island than that of the Han people in both Hainan Island and Central and South China, but there is no significant difference in ApoE gene frequency among them. Therefore, clinicians should adjust the dosage of statins and select the types of lipid-lowering drugs according to the differences in patients’ genotypes, and strengthen the management of patients with ApoE4 risk gene.展开更多
文摘Background: Self-immunization in systemic lupus is driven by defective in apoptosis. Fas, is an apoptosis-promoting cell surface receptor. The present study evaluate the possible association between APO-1/FAS Promoter (-670A/G) Polymorphism and sFAS level with susceptibility to lupus nephritis in SLE patients. Design and Methods: This study was performed on 88 female patients with SLE (mean age, 39.82 ± 10.16 years). 82 patients with lupus nephritis (mean age, 42.50 ± 6.65 years). 150 age and sex-matched person served as controls. All participants were genotyped for the APO-1/FAS Promoter (-670A/G) Polymorphism, manifestations and serum sFAS were correlated with the genotypes. Results: Serum sFAS was significantly higher in patients with -670 AA genotype compared to others. (-670A/G) AA genotype frequencies were significantly higher in the lupus nephritis and SLE patients groups compared with the controls and were associated with increased risk for lupus nephritis and SLE development (odds ratio, 4.08 and 1.91 respectively). Conclusions: The APO-1/FAS Promoter (-670A/G) A allele can be used as a genetic marker for lupus nephritis susceptibility in SLE and was associated with high sFAS level.
基金supported by a grant from the Tunisian Kidney Transplantation Research Fund
文摘BACKGROUND:Hepatitis C virus (HCV) infection is thought to be chronic and the factors leading to viral clearance or persistence are poorly understood.This study was undertaken to investigate the possibility of a significant relationship between the spontaneous clearance or the persistence of hepatitis C virus (HCV) infection and cytokine and apoptosis gene polymorphisms in Tunisian patients on hemodialysis.METHODS:Polymorphisms of the genes IL-1 (-889 IL-1α,-511 and +3954 IL-1β,IL-1Ra),IL-18 (-137 and-607),IL-12 (-1188) and Apo1/Fas (-670) were determined by PCR-RFLP,PCR-SSP and PCR-VNTR in 100 healthy blood donors and 100 patients infected with HCV and undergoing hemodialysis.The patients were classified into two groups:G1 consisted of 76 active chronic hepatitis patients (positive for HCV RNA) and G2 consisted of 24 hemodialysed patients who spontaneously eliminated the virus (negative for HCV RNA).RESULTS:The frequency of genotype association [-137GC/-607CA] IL-18 was higher in G2 (41.7%) than in G1 (15.8%) (P=0.008;OR=0.26;95% CI,0.10-0.73).We also found a higher frequency of the AA genotype of the Apo1/Fas gene in G2 (41.6%) than in G1 (17.5%) (P=0.026;OR=3.49;95% CI,1.13-10.69).Adjustment for known covariate factors (age,gender and genotype) confirmed these univariate findings and revealed that the genotype association GC-CA of the (-137 and-607) IL-18 gene and the AA genotype of the Apo1/Fas gene were associated with the clearance of HCV (P=0.041 and 0.017,respectively).CONCLUSION:The two genotypes GC-CA of the (-137 and-607) IL-18 polymorphism and the AA genotype of the Apo1/Fas gene influence the outcome of HCV infection in Tunisian patients on hemodialysis.
文摘Objective: To analyze the distribution characteristics and clinical significance of SLCO1B1 and ApoE gene polymorphisms of the Li people in Hainan Island. Method: Selecting 502 high school students of the Li people from five cities and counties in Hainan Island (namely, Qiongzhong County, Dongfang City, Ledong County, Baoting County and Wuzhishan City) as research subjects in September, 2019;Applying PCR-fluorescence probe method to detect SLCO1B1 and ApoE genotypes of the Li people in Hainan Island, and statistically analyzing the distribution characteristics of gene frequency and the distribution differences in gene polymorphisms between different genders. Meanwhile, detecting the SLCO1B1 and ApoE gene of 527 people from the Han people in five regions mentioned before, so as to analyze the distribution differences of the SLCO1B1 and ApoE gene between the Han people and the Li people. Results: The frequency of each genotype of SLCO1B1 in the Li people in Hainan Island is: *1a/*1a 6.77%, *1a/*1b 27.09%, *1b/1b 41.63%, *1a/*5 0.00%, *1a/*15 4.78%, *1b/15 16.93%., *5/*5 0.00%, *5/*15 0.00%, *15/*15 2.79%;And that of ApoE is: e2/e2 0.40%, e2/e3 17.73%, e2/e4 2.39%, e3/e3 65.54%, e3/e4 12.55%, e4/e4 1.39%. There is no significant difference (P > 0.05) in other genotypes except weak metabolic genotypes (*5/*5, *5/*15 and *15/*15) between the Han and the Li peoples. Conclusion: The gene frequency of SLCO1B1 weak metabolic genotype is dramatically higher in the Li people of Hainan Island than that of the Han people in both Hainan Island and Central and South China, but there is no significant difference in ApoE gene frequency among them. Therefore, clinicians should adjust the dosage of statins and select the types of lipid-lowering drugs according to the differences in patients’ genotypes, and strengthen the management of patients with ApoE4 risk gene.
