Luo Xiong-yan, Wu Li-jun, Yang Ming-hui, Liu Ning-tao, Liao Tao, Tang Zhong, Zeng Xiao-feng, Yuan Guo-hua
Institute of Rheumatology and Immunology, Affiliated Hospital of North Sichuan Medical College, Nanchong, China.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2011 Aug;27(8):901-5.
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.
探讨维生素D受体（VDR）基因Fok I多态性与系统性红斑狼疮（SLE）的关系，并观察中国汉族SLE患者的VDR mRNA水平。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测271例中国SLE患者和130例健康对照者的基因组DNA中Fok I多态性；采用实时聚合酶链反应（RT-PCR）检测48例中国SLE患者和38例健康对照者的VDR mRNA水平。
SLE患者与对照组等位基因F和f的基因频率差异有统计学意义（P=0.001）。等位基因F存在时SLE的相对风险为1.630（95%CI=1.210-2.196，P=0.001）。SLE患者中纯合子FF的频率高于对照组（42.8%对25.4%，χ²=11.417，P=0.001）。携带纯合子FF和杂合子Ff的SLE患者的浆膜炎、抗双链DNA抗体、抗Sm抗体和抗组蛋白抗体高于携带纯合子ff的SLE患者（分别为P=0.001、P=0.001、P=0.047、P=0.001）。与对照组的ΔCt值7.82±3.05相比，SLE患者的VDR mRNA降低，ΔCt值为9.26±2.37（P=0.026）（ΔCt值越大，VDR mRNA表达越低）。携带FF和Ff的SLE患者的VDR mRNA的ΔCt值大于携带ff的SLE患者（10.54±1.88对7.15±3.78，P=0.019）。
VDR基因Fok I多态性与中国南方汉族人群的SLE相关。携带F等位基因的SLE患者更易发生浆膜炎并产生抗双链DNA抗体、抗Sm抗体和抗组蛋白抗体，可能是由于VDR mRNA下调所致。
