Bak Søren, Gaist David, Sindrup Søren Hein, Skytthe Axel, Christensen Kaare
Epidemiology, Institute of Public Health, University of Southern Denmark, Odense, Denmark.
Stroke. 2002 Mar;33(3):769-74. doi: 10.1161/hs0302.103619.
Few studies have assessed the overall importance of genetic factors on stroke risk, and the results have been contradictory. We used a large, population-based twin register and nationwide registries of death and hospitalization with long-term follow-up to estimate the effect of genetic factors on the risk of stroke.
Through the population-based Danish Twin Register, we identified same-sex twin pairs born in 1870 through 1952 for whom at least 1 twin was recorded under a stroke diagnosis in the Register of Causes of Death or the Danish National Discharge Register. From the day of the first stroke event in each twin pair, the live co-twins were followed up for stroke. In survival analyses, we estimated the age- and sex-adjusted effect of zygosity on the risk of stroke death or hospitalization for stroke. Concordance rates, tetrachoric correlations, and heritability were also assessed.
Thirty-five of 351 monozygotic pairs (10%) and 34 of 639 dizygotic pairs (5%) were concordant for stroke death. The age- and sex-adjusted relative risk of stroke death in monozygotic compared with dizygotic co-twins was 2.1 (95% CI, 1.3 to 3.3). The probandwise concordance rates were 0.18 (95% CI, 0.14 to 0.22) for monozygotic and 0.10 (95% CI, 0.08 to 0.13) for dizygotic pairs. Thirty-three of 309 monozygotic pairs (11%) and 39 of 560 dizygotic pairs (7%) were concordant for stroke hospitalization or stroke death. The age- and sex-adjusted relative risk of stroke hospitalization or stroke death in monozygotic compared with dizygotic co-twins was 1.5 (95% CI, 0.9 to 2.4). The probandwise concordance rates were 0.19 (95% CI, 0.15 to 0.24) for monozygotic and 0.13 (95% CI, 0.10 to 0.16) for dizygotic pairs. The heritability estimates were 0.32 for the liability to stroke death and 0.17 for the liability to stroke hospitalization or stroke death.
The observed increased risk of stroke death and stroke hospitalization in monozygotic compared with dizygotic co-twins suggests that genetic factors increase the risk of stroke and that the size of this effect is moderate.
很少有研究评估遗传因素对中风风险的总体重要性，且结果相互矛盾。我们使用了一个基于人群的大型双胞胎登记册以及全国范围的死亡和住院登记册，并进行长期随访，以估计遗传因素对中风风险的影响。
通过基于人群的丹麦双胞胎登记册，我们识别出1870年至1952年出生的同性双胞胎对，其中至少有1名双胞胎在死亡原因登记册或丹麦国家出院登记册中有中风诊断记录。从每对双胞胎中首次发生中风事件之日起，对存活的双胞胎进行中风随访。在生存分析中，我们估计了同卵性对中风死亡或中风住院风险的年龄和性别调整效应。还评估了一致性率、四分相关系数和遗传度。
351对同卵双胞胎中有35对（10%）、639对异卵双胞胎中有34对（5%）中风死亡情况一致。同卵双胞胎与异卵双胞胎相比，年龄和性别调整后的中风死亡相对风险为2.1（95%可信区间，1.3至3.3）。同卵双胞胎的先证者一致性率为0.18（95%可信区间，0.14至0.22），异卵双胞胎为0.10（95%可信区间，0.08至0.13）。309对同卵双胞胎中有33对（11%）、560对异卵双胞胎中有39对（7%）中风住院或中风死亡情况一致。同卵双胞胎与异卵双胞胎相比，年龄和性别调整后的中风住院或中风死亡相对风险为1.5（95%可信区间，0.9至2.4）。同卵双胞胎的先证者一致性率为0.19（95%可信区间，0.15至0.24），异卵双胞胎为0.13（95%可信区间，0.10至0.16）。中风死亡易感性的遗传度估计值为0.32，中风住院或中风死亡易感性的遗传度估计值为0.17。
与异卵双胞胎相比，同卵双胞胎中观察到的中风死亡和中风住院风险增加表明，遗传因素会增加中风风险，且这种影响的程度适中。
