Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype.
Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype.
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DOI：
10.1155/2015/745647
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发表时间：
2015
影响因子：
4.1
通讯作者：
Conti F
中科院分区：
文献类型：
--
作者：
Ceccarelli F;Perricone C;Borgiani P;Ciccacci C;Rufini S;Cipriano E;Alessandri C;Spinelli FR;Sili Scavalli A;Novelli G;Valesini G;Conti F
遗传因素在决定系统性红斑狼疮(SLE)易感性中起着重要作用，与环境因素相互作用。在不同的SLE人群中进行的几项遗传学研究已经确定了许多易感基因。从临床的角度来看，SLE的临床和实验室表现具有很大的异质性。正如广泛证明的那样，特定的实验室特征与临床疾病亚组相关，具有不同的严重程度。同样，在过去的几年里，已经确定了特定表型和遗传变异之间的联系，从而有可能阐明导致疾病表现的不同机制和途径。然而，除了狼疮性肾炎(LN)，还没有研究设计来确定与不同表型发展相关的遗传变异。在这篇综述中，我们将报告目前已知的关于此特定关联的数据。
Genetic factors exert an important role in determining Systemic Lupus Erythematosus (SLE) susceptibility, interplaying with environmental factors. Several genetic studies in various SLE populations have identified numerous susceptibility loci. From a clinical point of view, SLE is characterized by a great heterogeneity in terms of clinical and laboratory manifestations. As widely demonstrated, specific laboratory features are associated with clinical disease subset, with different severity degree. Similarly, in the last years, an association between specific phenotypes and genetic variants has been identified, allowing the possibility to elucidate different mechanisms and pathways accountable for disease manifestations. However, except for Lupus Nephritis (LN), no studies have been designed to identify the genetic variants associated with the development of different phenotypes. In this review, we will report data currently known about this specific association.