ANALYSIS OF CUSHING DISEASE WHOLE EXOME SEQUENCING DATA 2020

2020 年库欣病全外显子组测序数据分析

• 批准号: 10270238
• 负责人: MICHAEL TSAI
• 金额: $ 28.09万
• 依托单位: UNIVERSITY OF MINNESOTA
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-09-24 至 2023-09-23
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10270238
• 关键词: Adrenal Glands; Area; Bioinformatics; Clinical; Code; Collaborations; Copy Number Polymorphism; Corticotropin; Data; Disease; Endocrine; Face; Genetic; Genetic Code; Height; Hydrocortisone; Intramural Research; Knowledge; Laboratories; Length; Literature; Medical; Methods; Nose; Outcome; Paper; Patients; Pituitary Gland; Pituitary Neoplasms; Pituitary-dependent Cushing' s disease; Proteins; Publications; Publishing; Research; Technology; United States National Institutes of Health; Variant; Work; clinical center; cost effective; exome sequencing; expectation; genetic variant; interest; population health; stem

Cushing's disease (CD) is a condition in which the pituitary gland produces inappropriate levels of adrenocorticotropic hormone (ACTH). ACTH stimulates the adrenal gland to produce excess cortisol, leading to clinical disease. CD is commonly caused by ACTH secreting pituitary tumors. It is noteworthy that patients who have CD also have abnormal features including abnormal facial height and nasal length. Stemming from our work in CD, we have developed an interest in other pituitary and endocrine conditions which requires the same work as indicated for CD below. This collaboration has been very successful in producing important discoveries now published in the medical literature. The Division of Intramural Population Health Research (DIPHR) and the Division of Intramural Research (DIR) have been collaborating in the search for genetic variants associated with CD via whole exome sequencing (WES). WES is an efficient, cost effective method to interrogate the genetic code responsible for coding proteins. With the use of WES technology in the studying of the Cushing disease a large amount of data was generated for analysis. The work has been highly productive and made possible the publication of 6 papers to date in this area. With the large number of variants discovered in this study far exceeding the original expectation and comparison to controls, we continue to enhance our search for copy number variants. This task order will continue to expand our knowledge of CD by analyzing the WES data on CD and other cases in collaboration with Dr. Constantine Stratakis at the NIH clinical center. Cases will be selected from those with the best associated clinical and laboratory data.

库欣氏病（CD）是垂体产生不适当水平的疾病 肾上腺皮质激素（ACTH）。 ACTH刺激肾上腺产生多余的皮质醇， 导致临床疾病。 CD通常由ACTH引起的垂体肿瘤。这是 值得注意的是，患有CD的患者也具有异常特征，包括异常面部高度 和鼻长。 源于我们在CD的工作，我们对其他垂体产生了兴趣 和内分泌条件，需要与下面的CD相同的工作。 这 合作在生产现已发表的重要发现方面非常成功 医学文献。 壁内卫生研究（DIPHR）和壁内划分 研究（DIR）一直在寻找与CD相关的遗传变异的合作 整个外显子组测序（WES）。 WES是一种审问的有效，具有成本效益的方法 负责编码蛋白质的遗传代码。 通过使用WES技术在研究库欣疾病中，大量数据是 生成用于分析。 这项工作的生产力很高，使得有可能出版6 迄今为止在此领域的论文。在这项研究中发现了大量变体 超出了最初的期望和与控件的比较，我们继续增强我们的搜索 用于拷贝数变体。 该任务订单将继续通过分析CD和CD上的WES数据来扩展我们的CD知识。 其他案件与NIH临床中心的君士坦丁Stratakis博士合作。 案件会 从具有最佳相关临床和实验室数据的人中选择。