Familial abdominal aortic aneurysms:: Collection of 233 multiplex families
Familial abdominal aortic aneurysms:: Collection of 233 multiplex families
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DOI：
10.1067/mva.2003.71
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发表时间：
2003-02-01
影响因子：
4.3
通讯作者：
Tromp, G
中科院分区：
文献类型：
--
作者：
Kuivaniemi, H;Shibamura, H;Tromp, G
目的：这项研究调查了大量的家庭，其中至少有两个人被诊断为腹主动脉瘤，以确定受影响的亲属的关系，先证者。主题和方法。该研究的家庭是通过美国、芬兰、比利时、加拿大、荷兰、瑞典和英国的各种血管外科中心以及我们的患者招募网站（www.genetics.wayne.edu/ags）招募的。我们确定了233个家庭，至少有两个人诊断为腹主动脉瘤。这些家庭来自九个不同的民族，但都是白色。这些家庭中有653例动脉瘤患者，平均每个家庭2.8例。大多数家庭都很小，只有两个人受到影响。然而，有六个家庭有六个人，三个家庭有七个人，一个家庭有八个人受到影响。先证者（82%）和受累亲属（77%）多为男性，与先证者的关系以兄弟关系最常见。大多数家系（72%）为常染色体隐性遗传，58个家系（25%）为非染色体显性遗传，8个家系为不完全显性常染色体显性遗传。在66个显性遗传的腹主动脉瘤家系中，共发现141个遗传家系，其中男传男、男传女、女传男、女传女分别占46%、11%、32%、11%。我们的研究支持了以前关于腹主动脉瘤家族聚集性的研究，并表明一级家庭成员，特别是男性亲属，风险增加。没有单一的遗传模式可以解释在这里研究的233个家庭中腹主动脉瘤的发生，这表明腹主动脉瘤是一种多因素疾病，具有多种遗传和环境危险因素。
Objective: This study investigated a large number of families in which at least two individuals were diagnosed with abdominal aortic aneurysms to identify the relationship of the affected relatives to the proband. Subjects andMethods. Families for the study were recruited through various vascular surgery centers in the United States, Finland, Belgium, Canada, the Netherlands, Sweden, and the United Kingdom and through our patient recruitment website (www.genetics.wayne.edu/ags).Results. We identified 233 families with at least two individuals diagnosed with abdominal aortic aneurysms. The families originated from nine different nationalities, but all were white. There were 653 aneurysm patients in these families, with an average of 2.8 cases per family. Most of the families were small, with only two affected individuals. There were, however, six families with six, three with seven, and one with eight affected individuals. Most of the probands (82%) and the affected relatives (77%) were male, and the most common relationship to the proband was brother. Most of the families (72%) appeared to show autosomal recessive inheritance pattern, whereas in 58 families (25%), abdominal aortic aneurysms were inherited in amosomal dominant manner, and in eight families, the familial aggregation could be explained by autosomal dominant inheritance with incomplete penetrance. In the 66 families where abdominal aortic aneurysms were inherited in a dominant manner, 141 transmissions of the disease from one generation to another were identified, and the male-to-male, male-to-female, female-to-male, and female-to-female transmissions occurred in 46%, 11%, 32%, and 11%, respectively.Conclusion: Our study supports previous studies about familial aggregation of abdominal aortic aneurysms and suggests that first-degree family members, male relatives, in particular, are at increased risk. No single inheritance mode could explain the occurrence of abdominal aortic aneurysms in the 233 families studied here, suggesting that abdominal aortic aneursyms are a multifactorial disorder with multiple genetic and environmental risk factors.