目前，有千分之一的人，其16号染色体上的一个区域（16p13.1）是重复的，这类人患胸主动脉瘤的几率是正常人的12倍，这种疾病会导致主动脉破裂，或急性胸主动脉夹层动脉瘤。 据估计，在美国，每年有10000人死于胸主动脉瘤和胸主动脉夹层动脉瘤，在美国TAAD已经排名为第15个致死性疾病。这项研究是由得克萨斯州大学休斯顿健康科学中心（UTHealth）和贝勒医学院的遗传学研究人员领导的，公开发表于6月16日的PLoS Genetics。 人类DNA部分片段缺失或重复被称为拷贝数变异或CNVs。 这些CNVs可以表现为一段基因拷贝数的缺失，比如2个拷贝数变为1个；或者是一个基因拷贝数的增加，如由2个拷贝数变为3个。
医学博士、哲学博士、资深作家及UTHealth教授Dianna Milewicz说：“我们刚刚开始了解拷贝数变异与疾病之间的联系。”他说：“这是发现的第一个与胸主动脉瘤相关的复发性CNV，此外，也是第一个可以造成多种疾病（精神病和胸主动脉疾病）的复发性CNV。”
16p13.1区域的重复与多种神经精神疾病，如精神分裂症、注意力缺陷多动症（ADHD）相关联。该区域内的其中一个基因是MYH11，众所周知，这个基因在机体内可以影响主动脉（包括胸主动脉）的平滑肌细胞。一个虚弱的胸主动脉将血液从心脏输送到身体的其他部位，可以导致动脉瘤和/或胸主动脉夹层动脉瘤，最终可引发猝死。
Milewicz说：“这项研究结果可能会影响到临床护理，因为16p13.1基因片段重复的患者存在一种恶性的胸主动脉疾病形式，可以导致动脉瘤变为直径较小的胸主动脉夹层动脉瘤。 此外，一旦医生需要用到患者的全基因组，就要对该患者的主动脉进行监控。(生物探索译)
生物探索推荐英文原文：
Risk factor identified for acute aortic dissections
People who have duplications in a region of chromosome 16 (16p13.1) that is present in approximately 1 in 1000 individuals have a 12-fold increased risk of thoracic aortic aneurysms leading to a tear in the aorta, or acute aortic dissections. An estimated 10000 people die annually from thoracic aortic aneurysms and dissections (TAAD) in the United States, where TAAD have ranked as high as the 15th leading cause of death. The study, led by genetic researchers at The University of Texas Health Science Center at Houston (UTHealth) and Baylor College of Medicine, will be published on June 16th in the open-access journal PLoS Genetics. There are regions of the human DNA that are deleted or duplicated, referred to as copy number variants or CNVs. These CNVs can manifest as a loss of the number of copies of a gene from two to one or as additional copies of a gene from two to three.
"We're just starting to understand copy number variants and their link to disease," said Dianna Milewicz, M.D., Ph.D., senior author and professor at UTHealth. "This is the first recurrent CNV discovered to be associated with thoracic aortic aneurysms and dissections. In addition, it is the first recurrent copy number variant to cause a predisposition to more than one disorder, neuropsychiatric conditions and thoracic aortic disease."
Duplications of the 16p13.1 region have been associated with a variety of neuropsychiatric disorders, such as schizophrenia and attention-deficit hyperactivity disorder (ADHD). One of the genes in this region is MYH11, which is known to affect the smooth muscle cell tissue in major arteries in the body, including the thoracic aorta. A weakness in the lining of the thoracic aorta, which carries blood from the heart to the rest of the body, can lead to an aneurysm and/or dissection, which can cause sudden death.
The results of this study could affect clinical care because it appears patients with 16p13.1 duplications have an aggressive form of the thoracic aortic disease that causes aneurysms to dissect at smaller diameters," Milewicz said. "Also, once doctors are able to use the entire genome, people with duplications in 16p13.1 would need to have their aortas monitored."
