Zöller Bengt, Li Xinjun, Ohlsson Henrik, Sundquist Jan, Sundquist Kristina
Center for Primary Health Care Research, Region Skåne and Lund University, Malmö, Sweden.
Circ Cardiovasc Genet. 2011 Oct;4(5):484-90. doi: 10.1161/CIRCGENETICS.111.959882. Epub 2011 Aug 31.
Coagulation allelic variants associated with venous thromboembolism (VTE) have been suggested to be involved in the pathogenesis of ischemic stroke. This nationwide study aimed at determining whether VTE shares familial susceptibility with ischemic stroke.
The Swedish Multigeneration Register of 0- to 75-year-old subjects was linked to the Swedish Hospital Discharge Register and the Cause of Death Register for the period 1987 to 2007. Odds ratios (ORs) for VTE and ischemic stroke were determined in 2 ways: odds of ischemic stroke in offspring whose parents had been diagnosed with VTE, and odds of VTE in offspring whose parents had been diagnosed with ischemic stroke. The analyses were repeated for siblings and spouses. Offspring of parents with VTE (n=25,929) were at increased risk for ischemic stroke (n=5595): OR, 1.10 (95% confidence interval [CI], 1.06-1.14). Siblings of probands with VTE (n=45,132) had no increased risk of ischemic stroke (n=1716): OR, 1.05 (95% CI, 1.00-1.11). Spouses of probands with VTE (n=24,106) were at increased risk for ischemic stroke (n=940): OR, 1.18 (95% CI, 1.10-1.27). The risks for VTE in relatives of probands with ischemic stroke were OR, 1.15; 95% CI, 1.10-1.21 (offspring); OR, 1.07; 95% CI, 1.02-1.12 (siblings); and OR, 1.21; 95% CI, 1.11-1.32 (spouses).
VTE does not share strong familial susceptibility with ischemic stroke in the Swedish population. Moreover, familial nongenetic factors contribute to the observed weak familial associations. The present study suggests that it is unlikely that strong shared disease-causing mutations exist to a large extent in the Swedish population.
与静脉血栓栓塞（VTE）相关的凝血等位基因变异被认为参与了缺血性中风的发病机制。这项全国性研究旨在确定VTE与缺血性中风是否具有共同的家族易感性。
将瑞典0至75岁人群的多代登记册与1987年至2007年期间的瑞典医院出院登记册和死亡原因登记册相链接。通过两种方式确定VTE和缺血性中风的比值比（OR）：父母被诊断为VTE的后代患缺血性中风的几率，以及父母被诊断为缺血性中风的后代患VTE的几率。对兄弟姐妹和配偶重复进行分析。VTE患者的后代（n = 25,929）患缺血性中风（n = 5595）的风险增加：OR为1.10（95%置信区间[CI]，1.06 - 1.14）。VTE先证者的兄弟姐妹（n = 45,132）患缺血性中风（n = 1716）的风险未增加：OR为1.05（95% CI，1.00 - 1.11）。VTE先证者的配偶（n = 24,106）患缺血性中风（n = 940）的风险增加：OR为1.18（95% CI，1.10 - 1.27）。缺血性中风先证者亲属患VTE的风险分别为：OR为1.15；95% CI，1.10 - 1.21（后代）；OR为1.07；95% CI，1.02 - 1.12（兄弟姐妹）；OR为1.21；95% CI，1.11 - 1.32（配偶）。
在瑞典人群中，VTE与缺血性中风不存在强烈的家族易感性。此外，家族性非遗传因素导致了所观察到的微弱家族关联。本研究表明，在瑞典人群中不太可能存在大量共同的致病突变。
