白人中静脉血栓栓塞遗传风险评分的复制，但非裔美国人中则不然。
Replication of a genetic risk score for venous thromboembolism in whites but not in African Americans.
作者信息
Folsom A R, Tang W, Weng L-C, Roetker N S, Cushman M, Basu S, Pankow J S
机构信息
Division of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, MN, USA.
Department of Medicine, University of Vermont, Burlington, VT, USA.
出版信息
J Thromb Haemost. 2016 Jan;14(1):83-8. doi: 10.1111/jth.13193. Epub 2015 Dec 29.
UNLABELLED
ESSENTIALS: There is little prospective information on genetic risk scores to predict venous thromboembolism (VT). Community based cohort followed a median of 22.6 years for VT occurrence. A 5-SNP risk score identified whites at risk of VT, but not African Americans. The utility of genetic risk scores for VT is yet to be established.
BACKGROUND
Case-control studies have created genetic risk scores of single nucleotide polymorphisms (SNPs) associated with venous thromboembolism (VTE) and documented their ability to predict VTE, but prospective data are lacking.
OBJECTIVE
To test the ability of a genetic risk score to predict VTE incidence in a prospective study, particularly in African Americans.
METHODS
We computed a previously proposed genetic risk score, based on five established VTE SNPs in the F5, F2, ABO, FGG, and F11 genes, in 9520 whites and 3049 African Americans initially free of VTE. We followed them a median of 22.6 years for VTE occurrence (n = 380 events in whites and n = 187 in African Americans).
RESULTS
In whites, the five-SNP weighted genetic risk score ranged from 0 to 5.8, and VTE risk increased 1.41-fold (95% confidence interval [CI] 1.27-fold to 1.56-fold) per allele increment. In African Americans, the weighted genetic risk score ranged from 0 to 4.6 and the hazard ratio per risk allele was 1.14 (95% CI 0.94-1.38), with adjustment for 10 principal components of ancestry. The area under the receiver operating characteristic curve for 20-year prediction of VTE from the weighted genetic risk score was 0.59 (95% CI 0.56-0.63) in whites and 0.56 (95% CI 0.51-0.61) in African Americans. Adding non-genetic factors increased the area under the curve to 0.67 in whites and to 0.66 in African Americans.
CONCLUSIONS
Higher values for a five-SNP genetic risk score helped identify white adults at risk of VTE. The genetic risk score did not identify future VTE occurrence in African Americans.
未标注
要点：关于预测静脉血栓栓塞（VT）的遗传风险评分，前瞻性信息较少。基于社区的队列对VT发生情况进行了中位数为22.6年的随访。一个包含5个单核苷酸多态性（SNP）的风险评分可识别有VT风险的白人，但对非裔美国人无效。VT遗传风险评分的效用尚未确立。
背景
病例对照研究创建了与静脉血栓栓塞（VTE）相关的单核苷酸多态性（SNP）的遗传风险评分，并记录了其预测VTE的能力，但缺乏前瞻性数据。
目的
在一项前瞻性研究中测试遗传风险评分预测VTE发生率的能力，尤其是在非裔美国人中。
方法
我们根据F5、F2、ABO、FGG和F11基因中5个已确定的VTE SNP，计算了一个先前提出的遗传风险评分，纳入9520名最初无VTE的白人和3049名非裔美国人。我们对他们进行了中位数为22.6年的随访，观察VTE发生情况（白人中有380例事件，非裔美国人中有187例）。
结果
在白人中，包含5个SNP的加权遗传风险评分范围为0至5.8，每个等位基因增加时，VTE风险增加1.41倍（95%置信区间[CI]为1.27倍至1.56倍）。在非裔美国人中，加权遗传风险评分范围为0至4.6，每个风险等位基因的风险比为1.14（95%CI为0.94 - 1.38），并对10个主要祖先成分进行了校正。根据加权遗传风险评分对VTE进行20年预测的受试者工作特征曲线下面积，白人中为0.59（95%CI为0.56 - 0.63），非裔美国人中为0.56（95%CI为0.51 - 0.61）。添加非遗传因素后，白人曲线下面积增加到0.67，非裔美国人增加到0.66。
结论
包含5个SNP的遗传风险评分较高的值有助于识别有VTE风险的白人成年人。遗传风险评分未能识别非裔美国人未来VTE的发生情况。
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