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强直性脊柱炎的遗传学——聚焦东亚与欧洲的种族差异

Genetics of Ankylosing Spondylitis-Focusing on the Ethnic Difference Between East Asia and Europe.

作者信息

Wu Xin, Wang Geng, Zhang Luding, Xu Huji

机构信息

Department of Rheumatology and Immunology, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, China.

The University of Queensland Diamantina Institute, The University of Queensland, Brisbane, QLD, Australia.

出版信息

Front Genet. 2021 Jun 14;12:671682. doi: 10.3389/fgene.2021.671682. eCollection 2021.

Abstract

Ankylosing spondylitis (AS) is a common, highly heritable inflammatory arthritis affecting the mainly axial joints in both East Asia and Europe. To date, the pathogenesis of AS is still unknown, although we know that genetics play a vital role in it. The HLA-B27 allele is found in over 85% of AS patients. However, strong evidence suggests that other major histocompatibility complex (MHC) and non-MHC genes are also involved in the pathogenesis. In addition, current data showed that there were significant differences in both genomics and metagenomics among the different ethnic populations. The investigation of the key role of the microbiome in AS pathogenesis also highlighted the host-microbiome genetic interactions. Here, we systematically review current AS genetic research data and further compare genetic differences, especially between East Asian and European groups, which may highlight the challenge in future genetic studies.

摘要

强直性脊柱炎(AS)是一种常见的、高度可遗传的炎症性关节炎,在东亚和欧洲主要影响中轴关节。迄今为止,AS的发病机制仍然不明,尽管我们知道遗传学在其中起着至关重要的作用。超过85%的AS患者存在HLA - B27等位基因。然而,有力证据表明其他主要组织相容性复合体(MHC)和非MHC基因也参与了发病机制。此外,目前的数据显示不同种族人群在基因组学和宏基因组学方面都存在显著差异。对微生物群在AS发病机制中关键作用的研究也凸显了宿主 - 微生物群的遗传相互作用。在此,我们系统地回顾当前AS的遗传研究数据,并进一步比较遗传差异,特别是东亚和欧洲人群之间的差异,这可能凸显未来遗传研究中的挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c26/8236852/a69777413763/fgene-12-671682-g001.jpg

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