Luo Xiong-yan, Wu Li-jun, Chen Long, Yang Ming-hui, Liao Tao, Liu Ning-tao, Ku-Er Banjiang, Xie Chuan-mei, Shi Ran-geng, Tang Zhong, Zhao Yan, Zeng Xiao-feng, Yuan Guo-hua
Institute of Rheumatology and Immunology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan Province, China.
Zhonghua Nei Ke Za Zhi. 2012 Feb;51(2):131-5.
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.
确定维生素D受体（VDR）基因ApaI和BsmI多态性在中国汉族系统性红斑狼疮（SLE）患者中的分布情况及其与SLE的相关性。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术，对244例中国SLE患者及162例性别和种族匹配的对照者的基因组DNA进行VDR ApaI和BsmI多态性组合分型。分析不同ApaI和BsmI基因型之间的临床特征。
SLE患者与对照者等位基因A和a的分布频率无显著差异，但SLE患者中杂合子基因型Aa的分布频率高于对照者（38.9%对22.2%，χ(2)=12.442，P = 0.000）。SLE患者与对照者BsmI等位基因和基因型的分布频率无显著差异（P>0.05）。然而，SLE患者与对照者ApaI和BsmI基因型组合的分布频率存在显著差异（χ(2)=18.226，P = 0.006）。SLE患者中基因型Aa-bb的分布频率高于对照者（32.4%对17.9%，χ(2)=10.449，P = 0.001），而SLE患者中基因型aa-Bb的分布频率低于对照者（30.3%对42.0%，χ(2)=5.808，P = 0.016）。此外，分析VDR ApaI和BsmI多态性组合对SLE症状的影响，发现携带Aa-bb基因型的SLE患者在浆膜炎（P = 0.003）、血液系统紊乱（P = 0.021）及抗Sm抗体（P = 0.01）方面与其他基因型相比存在显著差异。
ApaI和BsmI基因多态性Aa-bb基因型与中国汉族人群SLE的发病存在显著相关性，且基因型Aa-bb更多地参与浆膜炎、血液系统紊乱，并对抗体产生有阳性影响。
