在全身性红血性狼中,CCR5促进器区域的多态性
Juliana da Silveira Schauren1, Amanda Henrique de Oliveira1,2, Camila Rosat Consiglio1
1Laboratory of Immunobiology and Immunogenetics, Department of Genetics, Postgraduate Program in Genetics and Molecular Biology (PPGBM), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.
International journal of immunogenetics
|November 20, 2023
概括
CCR5促进体多态性影响全身性红斑狼 (SLE) 的发展. 在欧洲裔患者中,CCR5Δ32具有保护作用,但在非洲裔患者中,它是炎的危险因素.
科学领域:
- 免疫遗传学 免疫遗传学
- 类风湿病学 类风湿病学
- 分子生物学分子生物学
背景情况:
- 系统性红斑狼 (SLE) 是一种复杂的自身免疫性疾病,遗传基础不明.
- 化基因受体CCR5在免疫细胞贩运和炎症中发挥作用,使其遗传变异成为SLE病变的潜在贡献者.
研究的目的:
- 为了研究CCR5促进器区域多态性和SLE发展之间的关联.
- 在种族多样化的SLE患者和对照中分析CCR5基因型和单元型.
主要方法:
- 使用PCR-RFLP和直接测序,对CCR5促进体多态 (rs1799864, rs1799988, rs41469351, rs1800023, rs1800024) 和CCR5Δ32基因组进行基因定型.
- 在382名SLE患者和375名欧洲和非洲血统的对照人群中,基因型和亚型频率的比较.
- 二元物流回归分析用于评估疾病风险和临床关联.
主要成果:
- 来自欧洲的SLE患者具有较高的CCR5野生类型基因型的频率和较低的HHG*2类型的频率,这两者都与SLE风险增加有关.
- 在非洲裔SLE患者和对照人群之间观察到HHA/HHB,HHC和HHG*2亚型频率的显著差异.
- CCR5Δ32是欧洲裔个人中SLE的保护因子,是非洲裔个人中IV类炎的易感因子.
结论:
- 在SLE中,CCR5促进体多态是显著的疾病修饰剂.
- 在不同族群中,CCR5Δ32多态表现出对SLE发育和炎风险的差异性影响.
- 特定的CCR5单元型 (HHA/HHB,HHC,HHG*2) 可能会影响CCR5的表达,并在非洲人群中促进SLE的发病.
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