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真皮白细胞破碎性血管病及其与遗传变异的关联:系统评价。

Livedoid vasculopathy and its association with genetic variants: A systematic review.

机构信息

Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

出版信息

Int Wound J. 2021 Oct;18(5):616-625. doi: 10.1111/iwj.13563. Epub 2021 Mar 8.

Abstract

Livedoid vasculopathy (LV) is considered a disease of hypercoagulability. Association of LV with genetic variants is poorly characterised and large-scale genetic association studies have not been performed. The aim of the study was to systematically review variants in LV patients and to analyse the available clinical data. A systematic search of the literature in PubMed and Embase databases was performed to identify articles investigating genetic variation in LV patients. Thirty studies or case reports were identified that reported 265 LV patients tested for at least one out of six genetic variations. Among them, PAI-1 -675 4G/5G was the most common, accounting for 85.26% (81/95). Heterozygous 4G/5G was the major genotype. PAI-1 A844G, MTHFR C677T, and MTHFR A1298C were the second, third, and fourth most common variants in LV patients. Prothrombin G20210A and Factor V G1691A were mainly present in LV patients from Europe, North America, and South America. This review highlights the associations between LV and genetic variants. The distribution of variants may be geographically or ethnicity dependent; however, large sample case-control studies are needed to clarify associations.

摘要

皮肤白细胞碎裂性血管病(LV)被认为是一种高凝状态疾病。LV 与遗传变异的关联尚未得到充分描述,也尚未开展大规模的遗传关联研究。本研究旨在系统地回顾 LV 患者的变异情况,并分析现有临床数据。通过在 PubMed 和 Embase 数据库中进行系统检索,确定了调查 LV 患者遗传变异的文章。共确定了 30 项研究或病例报告,这些研究或报告共纳入了 265 名接受至少六种遗传变异之一检测的 LV 患者。其中,PAI-1-675 4G/5G 是最常见的变异,占 85.26%(81/95)。杂合子 4G/5G 是主要基因型。PAI-1 A844G、MTHFR C677T 和 MTHFR A1298C 是 LV 患者中第二、第三和第四常见的变异。凝血酶原 G20210A 和因子 V G1691A 主要存在于来自欧洲、北美和南美的 LV 患者中。本综述强调了 LV 与遗传变异之间的关联。变异的分布可能与地理位置或种族有关,但需要进行大规模的病例对照研究来阐明关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8556/8450804/5431daa5692d/IWJ-18-616-g001.jpg

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