ABSTRACT
ObjectiveTo determine the distribution of vitamin D receptor (VDR) gene Apa Ⅰ and Bsm Ⅰ polymorphism in systemic lupus erythematosus (SLE) and the association with SLE in Chinese Han patients.MethodsGenomic DNA from 244 Chinese SLE patients and 162 sex and ethnically matched controls were typed for VDR Apa Ⅰand Bsm Ⅰpolymorphism combination by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Clinical characteristics were analyzed between different Apa ] and Bsm Ⅰ genotypes.ResultsThere was no significant difference between the distribution frequencies of allelic gene A and a in SLE patients and the controls,but the distribution frequency of genotypes heterozygote Aa in SLE patients was higher than that in the controls ( 38.9％ vs 22.2％,x2 =12.442,P =0.000).There was no significant difference between the distribution frequency of allelic gene and genotypes of Bsm Ⅰin SLE patients and the controls ( P ＞ 0.05 ).However,there was significant difference between the distribution frequencies of Apa Ⅰ and Bsm Ⅰ genotypes combination in SLE patients and the controls (x2 =18.226,P =0.006).The distribution frequency of genotypes Aa-bb in SLE patients was higher than that in the controls ( 32.4％ vs 17.9％,x2 =10.449 P =0.001 ),while the distribution frequency of genotypes Aa-bb in SLE patients was lower than that in the controls (30.3％ vs 42.0％,x2 =5.808,P =0.016). Furthermore,analyzing the effect of VDR Apa Ⅰand Bsm Ⅰ polymorphism combination to the symptoms of SLE,significant difference was observed in SLE patients carrying Aa-bb genotypes involved in serositis ( P =0.003 ),hematological system disorder ( P =0.021 ),and anti-Sm antibodies ( P =0.01 ) compared with other genotypes.ConclusionThere is significant association between Apa Ⅰ and Bsm Ⅰ gene polymorphism Aa-bb genotypes and the incidence of SLE in the Han population of China,and genotype Aa-bb is more involved in serositis,hematological system disorder and has a positive effect on production of antibodies.
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Objective To determine the level of monocyte chemoattractant protein-1 (MCP-1) in patients with systemic lupus erythematosus (SLE) and to assess its relationship with disease activity and organ damage. Methods The plasma levels of MCP-I were measured by enzyme linked immunosorbent assay (ELISA) in 95 patients with SLE and 21 healthy controls. Disease activity in SLE patients was assessed using the SLE Disease Activity Index (SLEDAI). Results Plasma level of MCP-1 was significantly elevated in SLE patients than in healthy controls [(849±289) pg/ml vs (426±266) pg/ml, P<0.01]. Moreover, level of MCP-1 was significantly higher in SLE patients with lupus nephritis (LN) than in patients without LN (P<0.01), andin SLE patients with neuropsychiatric symptoms than in patients without neuropsychiatric involvement (P< 0.01). In addition, significant correlation between plasma MCP-I levels and the SLEDAI was observed (r= 0.3699, P<0.01), and this relationship was not influenced by the treatment with glucocorticoid and cyclophosphamide. Conclusion MCP-I may play an important role in the pathogenesis of SLE, including renal and neuropsychiatric involvement. MCP-I is also a serologic marker of disease activity in patients with SLE, and its measurement in SLE patients may be useful for the evaluation of disease activity.
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Objective To characterize the effects of TPP1 knockdown on Pot1a and Pot1b localization at telomeres and on the telomere end protection.Methods Knockdown of endogenous TPP1 in mouse embryonic fibroblasts(MEFs) with the retrovirus vector encoding shRNA targeting TPP1,IF/PNA-FISH was performed to determine the localization of Pot1a and Pot1b at telomeres,and TdT-FITC was applied to characterize the effects on the function of telomere end protection,cellular senescence was analyzed by SA-beta gal staining,and phosphorylated p53ser18 and p21 were examined by Western blotting.Results Pot1a and Pot1b were unable to localize at telomeres in about 65% of MEFs with TPP1 knockdown,while that was found in less than 5% of MEFs without TPP1 knockdown(t=10.96,P