Bioinformatic Analysis of the Genetics of Common Complex Diseases

复杂的多基因疾病，如心血管疾病、自身免疫性疾病、神经系统疾病和代谢性疾病，占发达国家死亡率和发病率的大多数，并构成许多老龄化和老年人疾病。遗传关联数据库（GAD）（Becker et al. 2004）是遗传关联研究信息的公共存储库，其中存档了已发表的各种人类疾病关联研究，重点是非孟德尔常见疾病。它目前包含大约130，000种疾病和基因特异性记录，包括超过3，300种独特基因的信息，以及超过6，900种独特疾病表型描述，包括阿尔茨海默病，自身免疫性疾病，自闭症，感染，败血症，心血管疾病，神经退行性疾病和中风;等等。目前，全球范围内每天访问GAD网站的网络点击量在2，000到7，000次之间。http://geneticassociationdb.nih.gov/ 这项工作的目标是存档，组织和注释来自已发表的遗传关联研究（包括全基因组关联研究（GWAS））的有关常见人类疾病遗传学的已发表信息。我们收集的信息是已公布的摘要信息，不收集任何与个体患者或家庭成员相关的信息。这是与CDC人类基因组流行病学网络和HuGE Navigator数据库合作完成的。 我们目前正在对这个数据库的内容进行系统的总结和分析。这涉及总结常见疾病的遗传学，与基于基因的复制，与相关和不同疾病的比较，以及与广泛基础的小鼠表型的遗传学的直接比较。这个正在进行的项目的一部分涉及整合人类和小鼠的基因数据与人类和小鼠微阵列的基因表达数据。与这项工作相关的是开发软件工具来调解数据分析和整合。

Complex multi-genetic diseases such as cardiovascular disease, autoimmune disorders, neurological disorders and metabolic diseases make up a majority of mortality and morbidity in developed countries and constitute many diseases of aging and of the elderly. The Genetic Association Database (GAD) (Becker et al. 2004) is a public repository of information from genetic association studies which archives published human disease association studies of all kinds with an emphasis on non-mendelian common disease. It currently contains approximately 130,000 disease and gene specific records, including information on over 3,300 unique genes, and over 6,900 unique disease phenotypic descriptions, including Alzheimers disease, autoimmune disease, autism, infection, sepsis, cardiovascular disorders, neurodegenerative disorders, and stroke; among many others. The GAD website is currently accessed worldwide by between 2,000 and 7,000 web hits per day. http://geneticassociationdb.nih.gov/ The goal of this effort is to archive, organize, and annotate published information on the genetics of common human diseases from published genetic association studies, including genome wide association studies (GWAS). The information we collect is published summary information and does not collect any information related to individual patients or family members. This is done in cooperation with CDC Human Genome Epidemiology Network and the HuGE Navigator database. We are currently involved in systematic summation and analysis of the contents of this database. This involves summarizing the genetics of common disease with regard to gene based replication, comparisons to related and disparate diseases, as well as direct comparisons to the genetics of broad based mouse phenotypes. A part of this ongoing project involves integration of human and mouse genetic data with human and mouse microarray based gene expression data. Associated with this effort is the development of software tools to mediate data analysis and integration.