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Population-specific ABO haplotypes reveal distinct venous thromboembolism risk in East Asians: insights from a large-scale genetic study 期刊论文

编号：

9AFFEBD6DEA87237D49CF9196210CAAE
作者：

Li, Haobo(李昊搏)#^[1,2,3]Zhang, Zhu(张竹)*^[1]Chen, Hong^[4];Yang, Yuanhua^[5];Wan, Jun^[6];Xu, Xiaomao^[7];Ji, Yingqun^[8];Yang, Guoru^[9];Zhang, Ping^[10];Han, Jing^[11];Ying, Kejing^[12];Xu, Qixia^[13];Zhu, Ling^[14];Yang, Tao^[15];Fu, Yingyun^[16];Weng, Haoyi^[17];Wang, Dingyi(王丁一)^[18]Zhang, Yunxia(张云霞)^[1]Zhang, Shuai(张帅)^[1]Huang, Qiang(黄强)^[1]Xie, Wanmu(谢万木)^[1]Zuo, Xianbo(左先波)^[19]Luo, Qin*^[20]Tregouet, DavidAlexandre^[3];Zhai, Zhenguo(翟振国)*^[1,2]Wang, Chen(王辰)^[1,2]
语种：

英文
期刊：

LANCET REGIONAL HEALTH-WESTERN PACIFIC ISSN：2666-6065 2026 年 66 卷 ; JAN
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关键词：

ABO blood group Haplotypes Venous thromboembolism Factor VIII
摘要：

Background The ABO blood group locus is a well-established genetic determinant of venous thromboembolism (VTE) risk in both individuals of European and East Asian ancestry. Recent studies have identified key ABO rs41302905 (O1/O2)-that influence both incident and recurrent VTE risk in Europeans. However, marked differences in ABO allele frequencies and haplotype structures across ancestries may render European findings inapplicable to East Asians, highlighting a critical gap in understanding the genetic basis of VTE in this population. Methods We conducted a haplotype-based association study using ABO-tagging SNPs (including rs512770 that distinguishes between O1.1 , O1.2) in 1576 VTE cases from China Pulmonary Thromboembolism Registry Study (CURES) and 17,535 ancestry-matched controls, adjusted for age, sex , genetic principal components to evaluate the effects of ABO haplotypes on VTE risk and recurrence. Findings Our analyses revealed key population-specific differences: in East Asians, the rs1053878-A allele is consistently co-inherited with the rs2519093-T allele, precluding its use as a specific marker for the A2 blood group, unlike in Europeans. Furthermore, all non-O1 haplotypes were homogeneously associated with a- 1.4- fold increased risk of VTE (p p = 5.2 x 10 -20 ) and a- 1.7-fold increased risk of recurrence (p p = 0.023), compared to the O1.1 group. Notably, the O1.2 blood group was also associated with a 1.7-fold increased risk of recurrence (p p = 0.039). Interpretation These findings highlight fundamental differences in ABO haplotype structure and disease associa- tions between East Asians and Europeans. Our study provides a population-specific SNP panel-rs8176719, rs2519093, rs1053878, rs8176743, and rs512770-for accurate genetic risk assessment of VTE in East Asians, underscoring the importance of ancestry-tailored approaches to thrombotic disease prediction. Copyright (c) 2025 The Author(s). Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
推荐引用方式
GB/T 7714：

Li Haobo,Zhang Zhu,Chen Hong, et al. Population-specific ABO haplotypes reveal distinct venous thromboembolism risk in East Asians: insights from a large-scale genetic study [J].LANCET REGIONAL HEALTH-WESTERN PACIFIC,2026,66.
APA：

Li Haobo,Zhang Zhu,Chen Hong,Yang Yuanhua,&Wang Chen.(2026).Population-specific ABO haplotypes reveal distinct venous thromboembolism risk in East Asians: insights from a large-scale genetic study .LANCET REGIONAL HEALTH-WESTERN PACIFIC,66.
MLA：

Li Haobo, et al. "Population-specific ABO haplotypes reveal distinct venous thromboembolism risk in East Asians: insights from a large-scale genetic study" .LANCET REGIONAL HEALTH-WESTERN PACIFIC 66(2026).
入库时间：

2026/1/14 10:19:18
更新时间：

2026/1/18 21:36:47
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