Zhu Zhengwei, Yang Lulu, Zhang Yaohua, Liu Lu, Huang Yan, Wen Leilei, Yang Chao, Chen Liyun, Wang Wenjun, Zuo Xianbo, Zhou Fusheng, Wang Hongyan, Tang Huayang, Zhang Xuejun, Yang Sen, Sheng Yujun, Cui Yong
Institute of Dermatology and Department of Dermatology, the First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.
Institute of Dermatology and Department of Dermatology, Huashan Hospital, Fudan University, Shanghai, China.
Ann Hum Genet. 2018 Jul;82(4):200-205. doi: 10.1111/ahg.12240. Epub 2018 Jan 3.
The polymorphism of PRKCB has been proven to be associated with systemic lupus erythematosus (SLE) in our previous study. We aimed to investigate the relationship between expression of PRKCB mRNA and the Disease Activity Index (SLEDAI) and manifestations of SLE. Quantitative reverse transcription polymerase chain reaction (RT-PCR) was applied to examine the expression of PRKCB mRNA in peripheral blood mononuclear cells of 60 patients with SLE and 62 controls. The Sequenom MassArray System was used to detect genotype SNP rs16972959. The expression levels of PRKCB mRNA in SLE cases were significantly increased compared with those in healthy controls (P < 0.001). In addition, PRKCB mRNA expression levels were negatively correlated with the SLEDAI (P < 0.05, r = -0.322), with lower mRNA expression levels of PRKCB in patients found with higher SLEDAI, presence of a new rash (P < 0.01), and proteinuria (P < 0.05). No association evidence was observed between the genotype of the variant rs16972959 and PRKCB mRNA expression levels; however, SNP rs16972959 was found to be an expression quantitative trait loci for PRKCB with the SLE risk allele correlated with increased expression in naïve monocytes (P = 9.12 × 10 ) and stimulated monocytes (9.24 × 10 > P > 2.75 × 10 ). On the other hand, SNP rs16972959 of PRKCB was found to have suggestive significant associations with vasculitis (P = 0.00718) of SLE. These results indicated that expression of PRKCB mRNA may be correlated with the pathogenesis of SLE; however, more investigation is still needed.
在我们之前的研究中，已证实蛋白激酶Cβ（PRKCB）的多态性与系统性红斑狼疮（SLE）相关。我们旨在研究PRKCB信使核糖核酸（mRNA）表达与疾病活动指数（SLEDAI）及SLE临床表现之间的关系。应用定量逆转录聚合酶链反应（RT-PCR）检测60例SLE患者和62例对照者外周血单个核细胞中PRKCB mRNA的表达。使用Sequenom MassArray系统检测基因型单核苷酸多态性（SNP）rs16972959。与健康对照相比，SLE患者中PRKCB mRNA的表达水平显著升高（P<0.001）。此外，PRKCB mRNA表达水平与SLEDAI呈负相关（P<0.05，r=-0.322），SLEDAI较高、出现新发皮疹（P<0.01）和蛋白尿（P<0.05）的患者中PRKCB的mRNA表达水平较低。未观察到变异体rs16972959的基因型与PRKCB mRNA表达水平之间存在关联证据；然而，发现SNP rs16972959是PRKCB的表达数量性状位点，SLE风险等位基因与未激活单核细胞（P=9.12×10）和激活单核细胞（9.24×10>P>2.75×10）中表达增加相关。另一方面，发现PRKCB的SNP rs16972959与SLE的血管炎存在提示性显著关联（P=0.00718）。这些结果表明，PRKCB mRNA的表达可能与SLE的发病机制相关；然而，仍需要更多的研究。
