RTI International, Rockville, MD, USA.
Am Heart J. 2011 Oct;162(4):627-632.e1. doi: 10.1016/j.ahj.2011.07.002.
Genetically triggered thoracic aortic conditions (GenTACs) represent an important problem for patients and their families. Accordingly, the National Heart, Lung, and Blood Institute established the first phase of its national GenTAC Registry in 2006.
Between 2007 and 2010, 6 enrolling centers established the GenTAC I Registry consisting of 2,046 patients (Marfan syndrome 576 [28.2%], bicuspid aortic valve disease 504 [24.6%], aneurysm or dissection age <50 years 369 [18%], and others). Biologic samples for DNA analyses (white blood cells or saliva) are available in 97%, and stored plasma is available in 60% of enrollees.
Initial scientific inquiry using the GenTAC Registry has included validation studies of genetic causes for aortic syndromes, potential usefulness of transforming growth factor beta (TGFB) blood levels in Marfan subjects, and current surgical approaches to ascending aortic conditions.
The second phase of GenTAC will allow biannual follow-up of GenTAC I enrollees for up to 9 years, enrollment of an additional 1,500 subjects, further integration of imaging findings with clinical and genetic data through utilization of an imaging core laboratory, important validation of phenotype-genotype correlations through a phenotyping core laboratory, and integration of a scientific advisory committee to help define the full range and depth of the Registry's scientific capabilities. The registry resources are available to the external scientific community through an application process accessible at https://gentac.rti.org.
遗传性触发的胸主动脉疾病（GenTACs）是患者及其家属的一个重要问题。因此，美国国立心肺血液研究所于 2006 年成立了其国家 GenTAC 注册中心的第一阶段。
2007 年至 2010 年，6 个注册中心建立了 GenTAC I 注册中心，共纳入 2046 名患者（马凡综合征 576 例[28.2%]，二叶式主动脉瓣疾病 504 例[24.6%]，<50 岁的动脉瘤或夹层 369 例[18%]，以及其他）。97%的患者可获得用于 DNA 分析的生物样本（白细胞或唾液），60%的患者可获得储存的血浆。
使用 GenTAC 注册中心进行的初步科学研究包括主动脉综合征遗传病因的验证研究、马凡综合征患者转化生长因子β（TGFB）血液水平的潜在用途，以及升主动脉疾病的当前手术方法。
GenTAC 的第二阶段将允许 GenTAC I 注册者每两年随访一次，最长可达 9 年，额外纳入 1500 名受试者，通过利用成像核心实验室进一步将成像结果与临床和遗传数据整合，通过表型核心实验室对表型-基因型相关性进行重要验证，并整合科学顾问委员会，以帮助确定注册中心科学能力的全部范围和深度。注册中心的资源可通过访问 https://gentac.rti.org 的申请程序提供给外部科学界。
