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葡萄膜炎的遗传学

Genetics of uveitis.

作者信息

Martin Tammy M, Kurz Daryl E, Rosenbaum James T

机构信息

Department of Ophthalmology, Oregon Health & Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239, USA.

出版信息

Ophthalmol Clin North Am. 2003 Dec;16(4):555-65. doi: 10.1016/s0896-1549(03)00071-3.

Abstract

Uveitis phenotypes can differ substantially, and most uveitis diseases are considered polygenic with complex inheritance patterns. When considering the genetics of these diseases, common threads can be identified. For example, in virtually every polygenic disease studied, there exists an HLA genetic association. This association can be strong, such as the associations of HLA-B27 with AAU and HLA-A29 with BSCR; or it can be more subtle, involving several HLA genes or a combination of HLA genes that compose specific haplotypes. In many of these conditions, it is hypothesized that genes other than classic MHC genes but located at the MHC locus may be important susceptibility genes. Genome-wide scans and other genetic methods are becoming increasingly successful in identifying genetic loci and candidate genes in many inflammatory disorders that have an uveitic component. It will be important to test these findings as uveitis-specific genetic factors. Therefore, the burgeoning understanding of the human genome promises to result in new insight into the pathogenesis of uveitis.

摘要

葡萄膜炎的表型差异很大,大多数葡萄膜炎疾病被认为是具有复杂遗传模式的多基因疾病。在考虑这些疾病的遗传学特征时,可以发现一些共同的线索。例如,在几乎每一种研究过的多基因疾病中,都存在HLA基因关联。这种关联可能很强,如HLA-B27与急性前葡萄膜炎(AAU)以及HLA-A29与鸟枪弹样视网膜脉络膜病变(BSCR)的关联;或者可能更不明显,涉及几个HLA基因或构成特定单倍型的HLA基因组合。在许多这些情况下,据推测,位于MHC位点但并非经典MHC基因的其他基因可能是重要的易感基因。全基因组扫描和其他遗传方法在识别许多具有葡萄膜炎成分的炎症性疾病中的遗传位点和候选基因方面越来越成功。将这些发现作为葡萄膜炎特异性遗传因素进行检验将很重要。因此,对人类基因组的迅速了解有望为葡萄膜炎的发病机制带来新的见解。

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