1Department of Genetics, Federal University of Pernambuco, Brazil.
Lupus. 2013 Oct;22(11):1110-7. doi: 10.1177/0961203313500549. Epub 2013 Aug 14.
Systemic lupus erythematosus (SLE) is an autoimmune disorder with heterogeneous clinical manifestations and target tissue damage. Currently, several genes have been associated with SLE susceptibility, including vitamin D receptor (VDR), which is a mediator of immune responses through the action of vitamin D. Polymorphisms in the VDR gene can impair the vitamin D (D3) function role, and since SLE patients show deficient D3 blood levels, it leads to a possible connection to the disease's onset. In our study we searched for an association between VDR polymorphisms and risk of developing SLE, as well as the disease's clinical manifestations. We enrolled 158 SLE patients and 190 Southeast Brazilian healthy controls, genotyped for five Tag single nucleotide polymorphisms (SNPs), covering most of the VDR gene region. We found an association between VDR SNPs and SLE for the following clinical manifestations: rs11168268 and cutaneous alterations (p=0.036), rs3890733 (p=0.003) rs3890733 and arthritis (p=0.001), rs2248098 and immunological alterations (p=0.040), rs4760648 and antibody anti-dsDNA (p=0.036). No association was reported between VDR polymorphisms and SLE susceptibility.
系统性红斑狼疮（SLE）是一种具有异质性临床表现和靶组织损伤的自身免疫性疾病。目前，已有多个基因与 SLE 易感性相关，包括维生素 D 受体（VDR），它通过维生素 D 的作用介导免疫反应。VDR 基因的多态性会损害维生素 D（D3）的功能作用，而由于 SLE 患者的 D3 血液水平不足，这可能与疾病的发病有关。在我们的研究中，我们搜索了 VDR 多态性与 SLE 发病风险以及疾病临床表现之间的关联。我们招募了 158 名 SLE 患者和 190 名巴西东南部健康对照者，对五个 Tag 单核苷酸多态性（SNP）进行基因分型，涵盖了 VDR 基因区域的大部分。我们发现 VDR SNP 与以下 SLE 临床表现之间存在关联：rs11168268 与皮肤改变（p=0.036）、rs3890733（p=0.003）rs3890733 与关节炎（p=0.001）、rs2248098 与免疫改变（p=0.040）、rs4760648 与抗 dsDNA 抗体（p=0.036）。VDR 多态性与 SLE 易感性之间没有关联。
