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多态性与单核苷酸多态性 rs2243188 与系统性红斑狼疮的关联。

Association of polymorphisms and the single nucleotide polymorphism rs2243188 with systemic lupus erythematosus.

机构信息

Department of Rheumatology, The Second Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, China.

Zhejiang Chinese Medical University, Hangzhou, China.

出版信息

J Int Med Res. 2021 May;49(5):3000605211019187. doi: 10.1177/03000605211019187.

DOI:10.1177/03000605211019187
PMID:34044633
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8165844/
Abstract

OBJECTIVE

Abnormal B cell lymphoma-2 (Bcl-2) and interleukin-19 (IL-19) expression is closely related to systemic lupus erythematosus (SLE) pathogenesis. We aimed to determine whether polymorphisms and a single nucleotide polymorphism (SNP) of are significantly associated with SLE susceptibility and if this is affected by synergism between and genotypes.

METHODS

This observational cohort study randomly enrolled 150 patients with SLE and 150 healthy controls. Major and allele and genotype distributions were examined in the two groups. The SNP rs2243188 was determined using the TaqMan-MGB probe method. The synergistic effect between and and clinical symptoms of SLE was also analyzed.

RESULTS

The distribution of major genotypes and common alleles, especially for genotypes 191, 193, and 197, differed significantly between patients and controls. A significant difference in the dominant genetic model was also observed between groups, but not in the recessive model. The risk of disease in individuals who carried both 195-bp and 138-bp susceptibility alleles was higher than in those carrying either allele alone.

CONCLUSIONS

This preliminary study suggested that polymorphisms and the SNP rs2243188 are closely related to the pathogenesis of SLE.

摘要

目的

异常 B 细胞淋巴瘤-2(Bcl-2)和白细胞介素-19(IL-19)的表达与系统性红斑狼疮(SLE)的发病机制密切相关。我们旨在确定是否存在 多态性和单核苷酸多态性(SNP)与 SLE 易感性显著相关,如果这种相关性受到 和 基因型协同作用的影响。

方法

本观察性队列研究随机纳入 150 例 SLE 患者和 150 例健康对照者。在两组中检查主要 和 等位基因和基因型分布。采用 TaqMan-MGB 探针法检测 SNP rs2243188。还分析了 和 之间的协同作用与 SLE 临床症状的关系。

结果

患者和对照组之间主要 基因型和常见 等位基因的分布,特别是基因型 191、193 和 197 的分布存在显著差异。组间显性遗传模型也存在显著差异,但隐性模型无差异。携带 195-bp 和 138-bp 易感等位基因的个体的疾病风险高于仅携带任一等位基因的个体。

结论

这项初步研究表明, 多态性和 SNP rs2243188 与 SLE 的发病机制密切相关。

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