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系统性红斑狼疮的遗传基础

Genetic basis of systemic lupus erythematosus.

作者信息

Vyse T J, Kotzin B L

机构信息

Departments of Pediatrics and Medicine, National Jewish Center for Immunology and Respiratory Medicine, Denver, CO 80206, USA.

出版信息

Curr Opin Immunol. 1996 Dec;8(6):843-51. doi: 10.1016/s0952-7915(96)80014-8.

Abstract

Recent studies have emphasized that systemic lupus erythematosus is a complex genetic trait with contributions from the MHC and multiple non-MHC genes. Genome-wide linkage studies in murine models of lupus have mapped the positions of a number of non-MHC loci, but the contributing genes have not yet been identified. Recent studies in human systemic lupus erythematosus have found an association with a particular FCGR2A allele. Although susceptibility genes in lupus are unlikely to involve mutations with severe functional consequences, murine knockout models that develop lupus-like features may provide insight into the pathogenetic mechanisms and contributing genes in the human disease.

摘要

近期研究强调,系统性红斑狼疮是一种复杂的遗传性状,受主要组织相容性复合体(MHC)和多个非MHC基因影响。狼疮小鼠模型的全基因组连锁研究已确定了多个非MHC基因座的位置,但相关基因尚未被鉴定出来。近期针对人类系统性红斑狼疮的研究发现,其与一种特定的FcγRIIA等位基因存在关联。尽管狼疮的易感基因不太可能涉及具有严重功能后果的突变,但表现出狼疮样特征的小鼠基因敲除模型可能有助于深入了解人类疾病的发病机制和相关基因。

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