The impact of next-generation sequencing technologies on HLA research.
The impact of next-generation sequencing technologies on HLA research.
复制标题
DOI：
10.1038/jhg.2015.102
复制
发表时间：
2015-11
影响因子：
3.5
通讯作者：
Inoue I
中科院分区：
文献类型：
--
作者：
Hosomichi K;Shiina T;Tajima A;Inoue I
在过去的十年中，下一代测序（NGS）的发展为个体全基因组分析铺平了道路。人类白细胞抗原（HLA）是一种广泛研究的参与免疫的分子，其研究受益于NGS技术。HLA区域是人类基因组6p21的3.6 Mb片段，与100多种不同的疾病有关，主要是自身免疫性疾病。最近，HLA区域受到了广泛关注，因为各种药物的严重不良反应与特定的HLA等位基因相关。由于HLA基因的复杂性，经典的直接测序方法不能全面阐明HLA基因的基因组组成。到目前为止，已经开发了几种使用NGS的高通量HLA分型方法。在HLA研究中，NGS有助于完成HLA测序，并有望提高我们对HLA基因调控机制的理解，包括转录、基因表达调控和表观遗传学。最重要的是，NGS还可以允许HLA组学分析。本文综述了NGS对HLA研究的影响，重点介绍了其临床应用潜力。
In the past decade, the development of next-generation sequencing (NGS) has paved the way for whole-genome analysis in individuals. Research on the human leukocyte antigen (HLA), an extensively studied molecule involved in immunity, has benefitted from NGS technologies. The HLA region, a 3.6-Mb segment of the human genome at 6p21, has been associated with more than 100 different diseases, primarily autoimmune diseases. Recently, the HLA region has received much attention because severe adverse effects of various drugs are associated with particular HLA alleles. Owing to the complex nature of the HLA genes, classical direct sequencing methods cannot comprehensively elucidate the genomic makeup of HLA genes. Thus far, several high-throughput HLA-typing methods using NGS have been developed. In HLA research, NGS facilitates complete HLA sequencing and is expected to improve our understanding of the mechanisms through which HLA genes are modulated, including transcription, regulation of gene expression and epigenetics. Most importantly, NGS may also permit the analysis of HLA-omics. In this review, we summarize the impact of NGS on HLA research, with a focus on the potential for clinical applications.
影响因子：
3.7
作者：
Ringquist S;Bellone G;Lu Y;Roeder K;Trucco M
通讯作者：
Trucco M