Publications (2)0 Total impact
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Article: [The association of vitamin D receptor gene ApaI and BsmI polymorphism with systemic lupus erythematosus].
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ABSTRACT: To determine the distribution of vitamin D receptor (VDR) gene ApaI and BsmI polymorphism in systemic lupus erythematosus (SLE) and the association with SLE in Chinese Han patients. Genomic DNA from 244 Chinese SLE patients and 162 sex and ethnically matched controls were typed for VDR ApaI and BsmI polymorphism combination by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Clinical characteristics were analyzed between different ApaI and BsmI genotypes. There 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%, χ(2) = 12.442, P = 0.000). There was no significant difference between the distribution frequency of allelic gene and genotypes of BsmI in SLE patients and the controls (P > 0.05). However, there was significant difference between the distribution frequencies of ApaI and BsmI genotypes combination in SLE patients and the controls (χ(2) = 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%, χ(2) = 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%, χ(2) = 5.808, P = 0.016). Furthermore, analyzing the effect of VDR ApaI and BsmI 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. There is significant association between ApaI and BsmI 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.Zhonghua nei ke za zhi [Chinese journal of internal medicine] 02/2012; 51(2):131-5. -
Article: [Relationship of vitamin D receptor gene Fok I polymorphism with systemic lupus erythematosus].
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ABSTRACT: To investigate the relationship of vitamin D receptor (VDR) gene Fok I polymorphism with systemic lupus erythematosus (SLE) and to observe VDR mRNA levels in Chinese Han SLE patients. Genomic DNAs from 271 Chinese SLE patients and 130 healthy controls were determined for Fok I polymorphism by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), and VDR mRNA levels from 48 Chinese SLE patients and 38 healthy controls were detected by real-time polymerase chain reaction (RT-PCR). Gene frequencies of allelic F and f were significantly different between the SLE patients and the controls (P=0.001).The relative risk of SLE in the presence of allelic gene F was 1.630 (95%CI=1.210-2.196, P=0.001). The frequency of homozygote FF in the SLE patients was higher than that in the controls (42.8% vs 25.4%, x(2);=11.417, P=0.001). Serositis, anti-dsDNA antibody, anti-Sm antibody and anti-histone antibody in the SLE patients carrying homozygote FF and heterozygote Ff were higher than those in the SLE patients carrying homozygote ff (P=0.001, P=0.001, P=0.047, P=0.001, respectively). The VDR mRNA was decreased in the SLE patients, with a delta;Ct value of 9.26 ± 2.37 (P=0.026), as compared with a delta;Ct value of 7.82 ± 3.05 in the controls (the bigger of the delta;Ct value, the lower of VDR mRNA expression). The delta;Ct value of VDR mRNA in the SLE patients carrying FF and Ff was bigger than that in the SLE patients carrying ff (10.54 ± 1.88 vs 7.15 ± 3.78, P=0.019). VDR gene Fok I polymorphism is associated with SLE in the Han population of southern China. The SLE patients carrying F allel ± are more likely to have serositis and produce anti-dsDNA antibody, anti-Sm antibody and anti-Histone antibody, presumably as a result of down-regulation of VDR mRNA.Xi bao yu fen zi mian yi xue za zhi = Chinese journal of cellular and molecular immunology 08/2011; 27(8):901-5.
