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种系免疫球蛋白基因:隐藏在眼皮底下的疾病易感基因?

Germline immunoglobulin genes: disease susceptibility genes hidden in plain sight?

作者信息

Collins Andrew M, Yaari Gur, Shepherd Adrian J, Lees William, Watson Corey T

机构信息

School of Biotechnology and Biomedical Sciences, University of New South Wales, Sydney, Australia.

Bioengineering Program, Faculty of Engineering, Bar-Ilan University, Ramat Gan, Israel.

出版信息

Curr Opin Syst Biol. 2020 Dec;24:100-108. doi: 10.1016/j.coisb.2020.10.011. Epub 2020 Oct 24.

DOI:10.1016/j.coisb.2020.10.011
PMID:37008538
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10062056/
Abstract

Immunoglobulin genes are rarely considered as disease susceptibility genes despite their obvious and central contributions to immune function. This appears to be a consequence of historical views on antibody repertoire formation that no longer stand, and of difficulties that until recently surrounded the documentation of the suite of antibody genes in any individual. If these important genes are to be accessible to GWAS studies, allelic variation within the human population needs to be better documented, and a curated set of genomic variations associated with antibody genes needs to be formulated. Repertoire studies arising from the COVID-19 pandemic provide an opportunity to meet these needs, and may provide insights into the profound variability that is seen in outcomes to this infection.

摘要

尽管免疫球蛋白基因对免疫功能有着明显且核心的贡献,但它们很少被视为疾病易感基因。这似乎是由于关于抗体库形成的历史观点已不再成立,以及直到最近在记录任何个体的抗体基因组方面仍存在困难。如果全基因组关联研究(GWAS)要能够研究这些重要基因,就需要更好地记录人类群体中的等位基因变异,并制定一套与抗体基因相关的经过整理的基因组变异。新冠疫情引发的抗体库研究为满足这些需求提供了契机,并且可能为深入了解该感染所呈现出的巨大变异性提供见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35eb/10062056/ea50f51b2439/nihms-1648456-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35eb/10062056/1a1b0701ab4c/nihms-1648456-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35eb/10062056/9777b08700d0/nihms-1648456-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35eb/10062056/ea50f51b2439/nihms-1648456-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35eb/10062056/1a1b0701ab4c/nihms-1648456-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35eb/10062056/9777b08700d0/nihms-1648456-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35eb/10062056/ea50f51b2439/nihms-1648456-f0003.jpg

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