一系列变异的临床意义，中国人群华法林敏感性不可忽视的预测指标。
Clinical significance of the series of variants, an unignorable predictor of warfarin sensitivity in Chinese population.
作者信息
Wang Dongxu, Wu Hualan, Dong Min, Zhang Qing, Zhao Anxu, Zhao Xinlong, Chong Jia, Du Minghui, Wang Yan, Shi Haifeng, Wang Shuanghu, Wang Fang, Cai Jianping, Yang Jiefu, Dai Dapeng, Chen Hao
机构信息
Department of Cardiology, National Center of Gerontology, Beijing Hospital, Beijing, China.
Arrhythmia Center, National Center for Cardiovascular Diseases, Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing, China.
出版信息
Front Cardiovasc Med. 2022 Nov 24;9:1052521. doi: 10.3389/fcvm.2022.1052521. eCollection 2022.
BACKGROUNDS
Gene polymorphisms are critical for variations in warfarin dose. To date, more than 70 alleles have been identified. This study was designed to clarify the clinical significance of variants to warfarin sensitivity in Chinese Han patients.
METHODS
The entire gene region was sequenced in 1,993 individuals, and clinical data and genotypes were collected from 986 patients with atrial fibrillation treated with warfarin. The SKAT-O method was used to analyze the effects of variants on warfarin sensitivity.
RESULTS
A total of 20 variants were identified, of which four were novel. Carriers with variants may have lower warfarin dose requirements, and similar to variants are clearly relevant to warfarin-sensitive and highly sensitive responders.
CONCLUSION
Our results showed that, besides , the series of variants is an unignorable predictor for warfarin sensitivity in Chinese population. From a safety consideration, people carried such variants may need a preferred choice of NOACs when they started anticoagulation therapy.
背景
基因多态性对于华法林剂量的个体差异至关重要。迄今为止，已鉴定出70多个等位基因。本研究旨在阐明中国汉族患者中基因变异对华法林敏感性的临床意义。
方法
对1993名个体的整个基因区域进行测序，并从986名接受华法林治疗的房颤患者中收集临床数据和基因型。采用SKAT-O方法分析基因变异对华法林敏感性的影响。
结果
共鉴定出20个基因变异，其中4个为新发现的变异。携带这些变异的患者可能对华法林剂量的需求较低，并且与已知变异相似，这些变异显然与对华法林敏感和高度敏感的反应者相关。
结论
我们的结果表明，除了已知的变异外，该系列基因变异是中国人群华法林敏感性不可忽视的预测指标。从安全性考虑，携带此类变异的人群在开始抗凝治疗时可能需要优先选择新型口服抗凝药（NOACs）。
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