分析 WDFY4 rs7097397 和 PHLDB1 rs7389 多态性与中国系统性红斑狼疮患者的关系。
Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus.
机构信息
West China School of Medicine/Department of Laboratory Medicine, West China Hospital of Sichuan University, Chengdu, China.
Department of Rheumatology & Immunology, West China Hospital of Sichuan University, Chengdu, China.
出版信息
Clin Rheumatol. 2022 Jul;41(7):2035-2042. doi: 10.1007/s10067-022-06103-4. Epub 2022 Feb 21.
OBJECTIVES
To explore the relationship among patient-specific SNPs from one SLE family, lupus susceptibility, and laboratory indicators in a western Chinese population.
METHODS
We previously performed whole exome sequencing in one SLE family and screened 5 SLE candidate SNPs. In this study, we verified them in 634 SLE patients and 400 healthy controls and analyzed the relationship between SNPs and laboratory indicators.
RESULTS
Among the 5 candidate SNPs, PHLDB1 rs7389T/G (dominant model, OR = 0.627, 95%CI = 0.480-0.820, P = 0.001) and WDFY4 rs7097397G/A (dominant model, OR = 0.653, 95%CI = 0.438-0.973, P = 0.035) were associated with SLE susceptibility. In addition, the G allele of rs7389 was related to an increased level of TNF-α (q = 0.013). The A allele of rs7097397 was related to reduced levels of IL-1β (q = 0.033) and IL-6 (q = 0.039) and high positive rate of antinuclear antibodies (q = 0.021).
CONCLUSIONS
Our study indicated that both the rs7389T/G and rs7097397G/A polymorphisms were related to SLE susceptibility in western China. rs7389T/G was related to increased TNF-α content, while rs7097397G/A was associated with reduced IL-1β and IL-6 content and increased antinuclear antibody positive rate. Key Points • The G allele of rs7389 was related to reduced susceptibility to SLE. • The A allele of rs7097397 was associated with reduced susceptibility to SLE. • The G allele of rs7389 was related to increased levels of TNF-α. • The A allele of rs7097397 was related to decreased concentrations of IL-1β and IL-6, as well as an increased positive rate of antinuclear antibody.
目的
探索一个中国西部 SLE 家系中患者特异性单核苷酸多态性（SNP）与狼疮易感性及实验室指标的关系。
方法
我们之前对一个 SLE 家系进行了全外显子组测序，并筛选了 5 个 SLE 候选 SNP。在这项研究中，我们在 634 例 SLE 患者和 400 例健康对照中验证了这些 SNP，并分析了 SNP 与实验室指标之间的关系。
结果
在 5 个候选 SNP 中，PHLDB1 rs7389T/G（显性模型，OR=0.627，95%CI=0.480-0.820，P=0.001）和 WDFY4 rs7097397G/A（显性模型，OR=0.653，95%CI=0.438-0.973，P=0.035）与 SLE 易感性相关。此外，rs7389 的 G 等位基因与 TNF-α 水平升高相关（q=0.013）。rs7097397 的 A 等位基因与 IL-1β（q=0.033）和 IL-6（q=0.039）水平降低及抗核抗体阳性率升高相关（q=0.021）。
结论
本研究表明，rs7389T/G 和 rs7097397G/A 多态性均与中国西部 SLE 易感性相关。rs7389T/G 与 TNF-α 含量增加相关，而 rs7097397G/A 与 IL-1β 和 IL-6 含量降低及抗核抗体阳性率升高相关。
关键点
rs7389 的 G 等位基因与 SLE 易感性降低相关。
rs7097397 的 A 等位基因与 SLE 易感性降低相关。
rs7389 的 G 等位基因与 TNF-α 水平升高相关。
rs7097397 的 A 等位基因与 IL-1β 和 IL-6 浓度降低及抗核抗体阳性率升高相关。
Zotero 插件