Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia
Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia
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DOI：
10.1097/hjh.0000000000000625
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发表时间：
2015-09-01
影响因子：
4.9
通讯作者：
Bouatia-Naji, Nabila
中科院分区：
文献类型：
--
作者：
Kiando, Soto Romuald;Barlassina, Cristina;Bouatia-Naji, Nabila
背景资料：纤维肌性发育不良（FMD）是一种非动脉粥样硬化性血管疾病，主要导致肾动脉和颈动脉狭窄、动脉瘤和夹层。FMD主要发生在女性中，患病率接近千分之四，并导致高血压、肾缺血或中风。FMD的发病机制尚不清楚，由于其具有家族聚集性，故怀疑其遗传起源。3971个基因中的编码变体按频率（次要等位基因频率）优先
Background: Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, aneurysm and dissection, mainly of renal arteries and carotids. FMD occurs predominantly in women with nearly four out of 1000 prevalence and cause hypertension, renal ischemia or stroke. The pathogenesis of FMD is unknown and a genetic origin is suspected given its demonstrated familial aggregation.Method: We performed whole exome sequencing (WES) in 16 cases (seven families). Coding variants in 3971 genes were prioritized on frequency (minor allele frequency