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Reumatologia. 2019;57(5):264-270. doi: 10.5114/reum.2019.89517. Epub 2019 Oct 31.
2
Systemic lupus erythematosus and immunodeficiency.系统性红斑狼疮与免疫缺陷
Immunol Med. 2019 Mar;42(1):1-9. doi: 10.1080/25785826.2019.1628466. Epub 2019 Jun 17.
3
Liver fibrosis: a compilation on the biomarkers status and their significance during disease progression.肝纤维化:疾病进展过程中生物标志物状态及其意义的综述
Future Sci OA. 2017 Oct 5;4(1):FSO250. doi: 10.4155/fsoa-2017-0083. eCollection 2018 Jan.
4
Lupus Hepatitis and Autoimmune Hepatitis (Lupoid Hepatitis).狼疮性肝炎与自身免疫性肝炎(类狼疮性肝炎)。
Am J Med Sci. 2017 Apr;353(4):329-335. doi: 10.1016/j.amjms.2016.10.014. Epub 2016 Nov 4.
5
T cells in Systemic Lupus Erythematosus.系统性红斑狼疮中的T细胞
Curr Opin Immunol. 2016 Dec;43:32-38. doi: 10.1016/j.coi.2016.09.001. Epub 2016 Sep 13.
6
Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han.程序性死亡蛋白1(PDCD1)、细胞毒性T淋巴细胞相关抗原4(CTLA4)和甲基化CpG结合蛋白2(MECP2)基因多态性与中国北方汉族系统性红斑狼疮的相关性
Genet Mol Res. 2015 Dec 21;14(4):17567-73. doi: 10.4238/2015.December.21.29.
7
Genetic Susceptibility to Cardiac and Digestive Clinical Forms of Chronic Chagas Disease: Involvement of the CCR5 59029 A/G Polymorphism.慢性恰加斯病心脏和消化系统临床类型的遗传易感性:CCR5 59029 A/G多态性的作用
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Inflammation. 2015 Dec;38(6):2185-90. doi: 10.1007/s10753-015-0201-6.

MECP2 和 CCR5 多态性在系统性红斑狼疮发病和病程中的作用。

The Role of MECP2 and CCR5 Polymorphisms on the Development and Course of Systemic Lupus Erythematosus.

机构信息

Department of Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, 02-637 Warsaw, Poland.

Department of Computer Science and Statistics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.

出版信息

Biomolecules. 2020 Mar 24;10(3):494. doi: 10.3390/biom10030494.

DOI:10.3390/biom10030494
PMID:32214033
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7175371/
Abstract

Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease. SLE is described by production of autoantibodies and causes damage of many organs. T-cells play a crucial role in SLE pathogenesis. T-cells intensify inflammation through a number of processes, which leads to autoimmunization. CCR5 and MECP2 genes are linked with T-cells and pathogenesis of SLE. Polymorphisms in these genes are related with the prognostic factors of risk of disease onset and disease severity. The aim of this study was to estimate the influence of polymorphisms in MECP2 and CCR5 genes on the development and course of systemic lupus erythematosus. We examined 137 SLE patients and 604 healthy controls. We studied polymorphisms for CCR5 gene: rs333 and for MECP2: rs2075596, rs1734787, rs17435, and rs2239464. We genotyped our MECP2 samples and we performed a restriction fragment length polymorphism (RFLP) analysis for CCR5 samples. We showed a risk factor for allele T in rs17435 and for allele A in rs2075596 in MECP2. We noticed that MECP2 rs2075596 G/A, rs1734787 C/A, rs17435 A/T, and rs2239464 G/A polymorphisms are more prevalent in SLE patients than in healthy controls. We believe that above-mentioned MECP2 polymorphisms can be considered as SLE susceptibility factor.

摘要

系统性红斑狼疮(SLE)是一种慢性全身性自身免疫性疾病。SLE 的特征是产生自身抗体,并导致多个器官受损。T 细胞在 SLE 的发病机制中起着至关重要的作用。T 细胞通过多种过程加剧炎症,从而导致自身免疫。CCR5 和 MECP2 基因与 T 细胞和 SLE 的发病机制有关。这些基因中的多态性与疾病发病风险和疾病严重程度的预后因素有关。本研究旨在评估 MECP2 和 CCR5 基因多态性对系统性红斑狼疮的发展和病程的影响。我们检查了 137 名 SLE 患者和 604 名健康对照者。我们研究了 CCR5 基因的 rs333 多态性和 MECP2 基因的 rs2075596、rs1734787、rs17435 和 rs2239464 多态性。我们对 MECP2 样本进行了基因分型,并对 CCR5 样本进行了限制性片段长度多态性(RFLP)分析。我们发现 MECP2 中 rs17435 的等位基因 T 和 rs2075596 的等位基因 A 是危险因素。我们注意到 MECP2 rs2075596 G/A、rs1734787 C/A、rs17435 A/T 和 rs2239464 G/A 多态性在 SLE 患者中比在健康对照组中更为常见。我们认为上述 MECP2 多态性可以被认为是 SLE 的易感性因素。