IL-21 polymorphisms in systemic lupus erythematosus

描述(申请人提供)：证据表明SLE是多基因的，推测单个突变的基因可能与疾病的特定特征有关。IL-21是一种I型细胞因子，在B细胞向浆细胞分化、树突状细胞成熟和T细胞反应中发挥重要作用。因此，IL-21是SLE的一个有吸引力的候选基因。初步研究表明，IL-21在SLE患者中具有多态性。要检验的假设是，IL-21基因多态与增加SLE易感性的功能后果相关。提出了两个具体的目标：1)确定导致SLE易感性的IL-21基因的多态和单倍型；2)确定IL-21基因多态对SLE易感性的功能影响。

DESCRIPTION (provided by applicant): Evidence indicates that SLE is polygenic, and it has been speculated that individual mutated genes may contribute to specific features of the disease. IL-21 is a type I cytokine that plays important roles in the differentiation of B cells into plasma cells, in dendritic cell maturation, and in T cell responses. IL-21 is therefore an attractive candidate gene for SLE. Preliminary studies strongly suggest that IL-21 is polymorphic in patients with SLE. The hypothesis to test is that IL-21 polymorphisms are associated with functional consequences that increase the susceptibility to SLE. Two specific aims are proposed: 1) characterize the polymorphisms and haplotypes of IL-21 that cause SLE susceptibility, and 2) determine the functional consequences of IL-21 polymorphisms upon SLE susceptibility.