维生素D受体Bsm I基因多态性及VDR mRNA表达与系统性红斑狼疮的相关性  

Association of Vitamin D Receptor Gene Bsm I Polymorphism and mRNA Expression with Systemic Lupus Erythematosus

作　　者：罗雄燕[1] 武丽君[2] 陈龙[1] 杨明辉[1] 刘宁涛[3] 库尔班江[2] 谢传美[1] 廖涛[1] 史冉庚[2] 唐中[1] 赵岩[4] 曾小峰[4] 袁国华[1] 

机构地区：[1]川北医学院风湿免疫研究所,四川南充637000 [2]新疆维吾尔自治区人民医院风湿科,乌鲁木齐83000 [3]四川省遂宁市中心医院风湿科,四川遂宁629000 [4]中国医学科学院北京协和医学院北京协和医院风湿免疫科,北京100730

出　　处：《中华临床免疫和变态反应杂志》2011年第1期17-23,共7页Chinese Journal of Allergy & Clinical Immunology

基　　金：卫生部重大疾病研究资助项目(2008BA159B02);川北医学院重点实验室开放基金资助项目(KFJJ(09)-03)

摘　　要：目的检测维生素D受体(VDR)Bsm I基因多态性与系统性红斑狼疮(SLE)的相关性,以及对SLE患者VDR mRNA表达的影响。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术检测VDR Bsm I多态性位点和基因型在242例系统性红斑狼疮患者和162例健康对照组中的分布情况,并分析与SLE发病的相关性及对SLE患者临床的影响。同时应用实时定量聚合酶链反应(RT-PCR)技术检测VDR mRNA在48例SLE患者和38例健康对照组的表达。结果 VDR Bsm I多态性等位基因B和b频率在SLE组和健康对照组差异无统计学意义(P=0.166),但B等位基因阳性的SLE患者(BB基因型和Bb基因型患者)肾脏损害的发生率较B等位基因阴性SLE患者明显升高(bb基因型患者,P=0.044)。VDR mRNA在48例SLE患者表达下调,其⊿Ct值(⊿Ct值越大,表达量越小)为9.26±2.37,高于健康对照组的7.82±3.05(P=0.026)。而在SLE患者,B等位基因阳性患者的VDR mRNA的⊿Ct值为9.53±0.53,明显高于B等位基因阴性患者的7.77±4.30(t=2.502,P=0.016)。结论 VDR Bsm I基因多态性与SLE发病易感性无关,但B等位基因阳性患者更容易发生肾脏损害,此可能与B等位基因下调SLE患者的VDR mRNA表达有关。Objective To investigate the association of vitamin D receptor（VDR）gene Bsm I polymorphism with systemic lupus erythematosus（SLE）and the influence to VDR mRNA in SLE in Chinese Han patients.Methods Genomic DNA from 242 Chinese SLE patients and 162 sex and ethnically matched controls were typed for VDR Bsm I polymorphism by polymerase chain reaction restriction fragment length polymorphism（PCR-RFLP）.Clinical characteristics were analyzed among different Bsm I genotypes.The expression of VDR mRNA from 48 Chinese SLE patients and 38 sex and ethnically matched controls were detected with real-time polymerase chain reaction（RT-PCR）.Results There was no significant difference between frequencies of allelic gene B and b in SLE and controls（P = 0.166）.But SLE patients carrying allelic gene B（BB and Bb genotypes）which were more involved in renal disorder when compared with patients carrying allelic gene B negative（bb genotype,P = 0.044）.The expression of VDR mRNA in 48 SLE was down-regulating,while the ⊿Ct value of SLE was higher than controls（9.26 ± 2.37 vs 7.82 ± 3.05,P = 0.026）（the higher of ⊿Ct value,the lower of expression quantity）.The ⊿Ct value of VDR mRNA in SLE carrying B allele was higher than that in B allele negative SLE（9.53 ± 0.53 vs 7.77 ± 4.30,t = 2.502,P = 0.016）.Conclusion There is no association between the VDR gene Bsm I polymorphism and systemic lupus erythematosus in the Han population of southern China,but the patients carrying B allele are more involved in renal disorder which may be due to carrying B allele down-regulating the expression of VDR mRNA in SLE.

关 键 词：系统性红斑狼疮 维生素D受体 BSM I 基因多态性 

分 类 号：R593.241[医药卫生—内科学]