CRP启动子的基因变异：与系统性红斑狼疮的关联。
Genetic variation in the CRP promoter: association with systemic lupus erythematosus.
作者信息
Edberg Jeffrey C, Wu Jianming, Langefeld Carl D, Brown Elizabeth E, Marion Miranda C, McGwin Gerald, Petri Michelle, Ramsey-Goldman Rosalind, Reveille John D, Frank Summer G, Kaufman Kenneth M, Harley John B, Alarcón Graciela S, Kimberly Robert P
机构信息
Division of Clinical Immunology and Rheumatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294-2182, USA.
出版信息
Hum Mol Genet. 2008 Apr 15;17(8):1147-55. doi: 10.1093/hmg/ddn004. Epub 2008 Jan 8.
The pentraxin C-reactive protein (CRP), an innate immune system opsonin which binds nuclear debris and apoptotic bodies, may protect against autoimmunity. A relative deficiency of CRP levels in patients with systemic lupus erythematosus (SLE) might contribute to altered handling of self-antigens. We report that the proximal 5' promoter region of CRP contains several polymorphisms that exhibit association with SLE in multiple populations. Strongest association was observed at the proximal promoter single nucleotide polymorphism (SNP) rs3093061 (CRP-707) (P = 6.41 x 10(-7) and P = 2.13 x 10(-6) in African-American and Caucasian case-control samples respectively). This association remains after adjustment for admixture. Linkage disequilibrium exists between SNPs in the proximal promoter and association of functional haplotypes containing rs3091244/rs3093062 (CRP-409/-390) appear to be driven by the rs3093061 (CRP-707) association. These data demonstrate that rs3093061 at the -707 site within the CRP gene is an SLE susceptibility locus.
五聚体蛋白C反应蛋白（CRP）是一种先天性免疫系统调理素，可结合核碎片和凋亡小体，可能对自身免疫起到保护作用。系统性红斑狼疮（SLE）患者中CRP水平相对不足可能导致自身抗原处理异常。我们报告称，CRP近端5'启动子区域存在多个多态性，在多个群体中均与SLE相关。在近端启动子单核苷酸多态性（SNP）rs3093061（CRP - 707）处观察到最强的相关性（在非裔美国人和白种人的病例对照样本中，P分别为6.41×10⁻⁷和2.13×10⁻⁶）。调整混合因素后，这种相关性仍然存在。近端启动子中的SNP之间存在连锁不平衡，包含rs3091244/rs3093062（CRP - 409/-390）的功能单倍型的相关性似乎由rs3093061（CRP - 707）的相关性驱动。这些数据表明，CRP基因中 - 707位点的rs3093061是一个SLE易感位点。
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