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在后全基因组关联研究时代寻找银屑病易感基因:绘制前进的道路。

The quest for psoriasis susceptibility genes in the postgenome-wide association studies era: charting the road ahead.

机构信息

Division of Genetics and Molecular Medicine, King's College London, London SE1 9RT, UK.

出版信息

Br J Dermatol. 2012 Jun;166(6):1173-5. doi: 10.1111/j.1365-2133.2012.10895.x.

Abstract

The International Psoriasis Council, a global nonprofit organization dedicated to advancing psoriasis research and treatment, organized its inaugural genetics workshop in Montreal, on 12 October 2011. The presentations included a summary of the remarkable progress achieved through the implementation of genome-wide association studies, which have highlighted key pathogenic pathways for psoriasis. Ongoing meta-analyses are identifying further susceptibility genes, bringing the number of known loci close to 40. The functional characterization of low-risk alleles is proving problematic, but next-generation sequencing approaches are expected to identify rare deleterious variants, which will be easier to investigate. Elucidating the genetic architecture of psoriasis will have major implications in terms of understanding disease mechanisms and predicting response to treatment.

摘要

国际银屑病理事会是一个全球性的非营利组织,致力于推进银屑病研究和治疗。该组织于 2011 年 10 月 12 日在蒙特利尔举办了首次遗传学研讨会。会议的演讲内容包括通过全基因组关联研究取得显著进展的概述,这些研究突出了银屑病的关键致病途径。正在进行的荟萃分析确定了更多的易感基因,使已知的基因座接近 40 个。低风险等位基因的功能特征证明存在问题,但下一代测序方法有望识别罕见的有害变体,这将更容易进行研究。阐明银屑病的遗传结构将对理解疾病机制和预测治疗反应具有重要意义。

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