The subarachnoid hemorrhage (SAH) caused by ruptured intracranial aneurysms (IAs) is always a lethality. Increasing evidence suggests a familiar aggregation of IA occurrence, which may relate to genetics and there might be an increasing number of IAs in IA families when mutation of disease genes is aggregating. With the progress in the study of familiar intracranial aneurysms (FIAs), a large number of chromosome fragments are found to be related with IAs, such as 1p36, 5q31, 7q11, 14q22, 17cen, 19q13, Xp22. Further studies indicated that mutation of several genes could be the cause of FIAs, including TNFRSF13B, ANRIL, SOX17, ADAMTS15, RNF213 and LOXL2. The independent genetic epidemiologic study on aneurysm families can be used to discover the related genes more effectively, and to explore the mechanism of occurrence of IAs. It's also the precondition for the prevention of disease.
颅内动脉瘤(intracranial aneurysm，IA)破裂引起的蛛网膜下腔出血常可致残、致命。IA存在家族聚集性，这可能与遗传有关，相关基因突变在家族内聚集可能导致家族内成员的IA发病率增加。随着对家族性颅内动脉瘤(familiar intracranial aneurysms，FIAs)家系研究的深入，1p36，5q31，7q11，14q22，17cen，19q13，Xp22等染色体片段都被发现可能与IA的发病相关。TNFRSF13B，ANRIL，SOX17，ADAMTS15，RNF213，LOXL2等基因的突变都可能导致FIAs的发生。FIAs家系富集遗传学负荷，对其进行独立的遗传流行病学关联研究，能更经济有效地发现疾病相关基因，进一步探明IA的发生、发展机制，为疾病的防治奠定基础。.