Stroke:孟德尔基因和散发性脑出血和小血管缺血性卒中的风险!

2017-07-06 xing.T MedSci原创

由此可见,在没有综合征特征和卒中家族史的情况下,小血管卒中患者孟德尔突变筛查不太可能具有很高的诊断效用。

孟德尔卒中是罕见的以早发小血管卒中为特征的遗传性疾病。虽然研究人员在具有综合征特征的家族中进行了广泛的研究,但是这些基因是否影响散发病例的发病风险是尚不确定。在散发性卒中病例(≤70岁)的病例对照研究中,研究人员对8个导致孟德尔卒中的基因进行了测序。参与者包括来自于 INTERSTROKE 研究(世界上不同地区和民族群体卒中常规和新危险因素的重要性研究)的1251例小血管病理学的原发性卒中病例(637例脑内出血和614例小血管缺血性卒中病例)和1716例对照者。总体而言,病例组典型致病突变的发生率为0.56%,对照组为0.23%(比值比为1.89; 95%CI为0.54-7.57; P=0.33)。CADASIL(脑常染色体显性动脉瘤伴皮质性梗死和脑白质病变)突变在病例组(0.48%)比对照组(0.23%)更为频繁,但与卒中风险无显著相关性(比值比为2.03; 95%CI为0.58-8.02 ; P=0.27)。接下来,研究人员调查了包括所有罕见的非同义突变,以明确其他类型的突变是否可能增加卒中风险。总体而言,13.5%的病例和14.2%的对照者至少是一种罕见的非同义突变的携带者。突变

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    2017-10-20 zxxiang
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    2017-07-12 1e10c84am36(暂无匿称)

    文章真好,拜读了

    0