维生素D受体Apa Ⅰ和Bsm Ⅰ位点基因多态性与系统性红斑狼疮相关性研究  

The association of vitamin D receptor gene Apa Ⅰ and Bsm Ⅰ polymorphism with systemic lupus erythematosus

作　　者：罗雄燕[1] 武丽君[2] 陈龙[1] 杨明辉[1] 廖涛[1] 刘宁涛[3] 库尔班江[2] 谢传美[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,四川省南充市637000 [2]新疆维吾尔自治区人民医院风湿科 [3]四川省遂宁市中心医院风湿科 [4]中国医学科学院北京协和医学院北京协和医院风湿科

出　　处：《中华内科杂志》2012年第2期131-135,共5页Chinese Journal of Internal Medicine

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[KFJJ （09）-03]

摘　　要：目的 通过检测系统性红斑狼疮（ SLE）患者维生素D受体（VDR） Apa Ⅰ和Bsm Ⅰ位点基因多态性,探索其与SLE发病的相关性.方法 应用PCR-限制性片段长度多态性（RFLP）检测244例SLE患者和162例健康对照者VDR Apa Ⅰ和Bsm Ⅰ位点多态性基因联合分布情况.结果 （1） VDR ApaⅠ位点Aa基因型频率SLE组为38.9％ （95/244）,明显高于健康对照者22.2％（36/162;x2=12.442,P=0.000）；而VDR Bsm Ⅰ位点各等位基因和基因型频率2组间差异无统计学意义（P值均＞0.05）.（2） VDR Apa Ⅰ和Bsm Ⅰ位点多态性基因型联合分布2组间差异有统计学意义（x2=18.226,P=0.006）.Aa-bb基因型频率SLE组为32.4％（ 79/244）,健康对照者为17.9％（29/162;x2=10.449,P=0.001）.（3） Aa-bb基因型患者浆膜炎、血液系统受累发生率、抗Sm抗体阳性率高于其他基因型（P =0.003,P=0.021,P=0.01）.结论 VDR Apa Ⅰ和Bsm Ⅰ位点多态性基因型联合中Aa-bb基因型与我国汉族SLE发病易感性有关,而Aa-bb基因型SLE患者更易出现浆膜炎、血液系统受累和抗Sm抗体生成.Objective To 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.Methods Genomic DNA from 244 Chinese SLE patients and 162 sex and ethnically matched controls were typed for VDR Apa Ⅰ and Bsm Ⅰ polymorphism combination by polymerase chain reaction restriction fragment length polymorphism （PCR-RFLP）. Clinical characteristics were analyzed between different Apa ] and Bsm Ⅰ genotypes.Results 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%,x2 =12.442,P =0.000）.There was no significant difference between the distribution frequency of allelic gene and genotypes of Bsm Ⅰ in 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 Ⅰ and 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.Conclusion There 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

关 键 词：红斑狼疮 系统性 受体 骨化三醇 ApaⅠ BsmⅠ 多态性 单核苷酸 

分 类 号：R593.241[医药卫生—内科学]