Heritability of MRI Lesion Volume in CADASIL
Heritability of MRI Lesion Volume in CADASIL
复制标题
CADASIL 中 MRI 病变体积的遗传力
DOI：
--
复制
发表时间：
2006
期刊：
影响因子：
--
通讯作者：
MartinDichgans
中科院分区：
文献类型：
--
作者：
ChristianOpherk;NilsPeters;MarkusHoltmannspötter;AndreasGschwendtner;BertramMüller;MartinDichgans
背景和目的-CADASIL（伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病）是一种由NOTCH 3突变引起的小血管疾病，其表型表现率在个体中表现出显著的变异性。然而，人们对造成这种变化的因素知之甚少。我们试图量化修饰遗传效应对脑缺血性病变体积个体差异的贡献。方法：来自95个CADASIL家族的151名受影响个体（平均年龄±SD=45.7±10.4）接受了MRI检查。量化T2加权成像上可见的病变体积和颅内体积（ICV），并评估血管风险因素。由于偏态分布，病变体积测量值进行平方根转换。方差分量法用于估计病变体积的遗传力（即由加性遗传因素引起的变异比例），调整协变量后。
Background and Purpose— The phenotypic expressivity shows striking variability among individuals with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a small vessel disease caused by mutations in NOTCH3. However, little is known about the factors that underlie this variability. We sought to quantify the contribution of modifying genetic effects to individual differences in the volume of cerebral ischemic lesions. Methods— One hundred and fifty-one affected individuals (mean age±SD=45.7±10.4) from 95 unrelated families with CADASIL underwent MRI. The volume of lesions visible on T2-weighted images and the intracranial volume (ICV) were quantified and vascular risk factors were assessed. Because of a skewed distribution, lesion volume measures were square-root transformed. Variance component methods were used to estimate the heritability of lesion volumes (ie, the proportion of variation caused by additive genetic factors) after adjusting for covariates....