Resolving the genetics of human tryptases: implications for health, disease, and clinical use as a biomarker.

Resolving the genetics of human tryptases: implications for health, disease, and clinical use as a biomarker.
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解决人类类胰蛋白酶的遗传学问题:对健康、疾病和作为生物标志物的临床应用的影响。

DOI:
10.1097/aci.0000000000000813
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发表时间:
2022
影响因子:
2.8
通讯作者:
Lyons,JonathanJ
Lyons,JonathanJ
中科院分区:
医学3区
文献类型:
--
作者:
O'Connell,MichaelP;Lyons,JonathanJ

文献摘要

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类胰蛋白酶的可变拷贝数和同种型表达对人类肥大细胞相关疾病和反应的影响不同。最近的进展,在了解遗传学管理BST水平已经完善了我们的理解和临床使用这种生物标志物。在未来,类胰蛋白酶基因分型的整合可能会成为从哮喘到肥大细胞增多症等肥大细胞影响表型的患者的检查和试验设计的组成部分。
Variable copy number and isoform expression of tryptases differentially impact diseases and reactions associated with mast cells in humans. Recent advances in understanding of genetics governing BST levels have refined our understanding and the clinical use of this biomarker. In the future, incorporation of tryptase genotyping will likely be integral to the work-up and trial design of patients with phenotypes impacted by mast cells ranging from asthma to mastocytosis.