Population genomics: Laying the groundwork for genetic disease modeling and targeting
Population genomics: Laying the groundwork for genetic disease modeling and targeting
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DOI：
10.1515/cclm.1998.089
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发表时间：
1998-08-01
影响因子：
6.8
通讯作者：
Stefansson, K
中科院分区：
文献类型：
--
作者：
Gulcher, J;Stefansson, K
家庭已被证明是研究孟德尔疾病的最合适的单位。然而，在研究常见疾病时，以家庭为基本单位存在某些局限性，其中大多数是复杂的遗传疾病。最有可能产生复杂疾病遗传学的群体是具有强烈创始人效应的孤立群体。因此，接触这些人群证明是常见疾病遗传学工作的宝贵资源。冰岛人口是研究常见疾病遗传学的优秀人口;它具有遗传同质性，许多特征具有创始人效应，整个国家的家谱可以追溯到建国之日。此外，冰岛国家保健系统的性质便于在寻找疾病基因时确定表型，解码遗传学已开始研究世界西部地区20种最常见疾病的遗传学。该公司已经为构建加密数据库奠定了基础，该数据库包含整个国家的医疗保健信息，整个国家的家谱，全国大部分地区高密度标记的基因分型信息（包括已知疾病基因的分型）以及冰岛医疗保健系统的资源使用。该计划是在参与个人以及冰岛政府和卫生保健官员的批准下建立数据库。该数据库将被用来模拟从疾病发生的遗传倾向角度来看的保健。该数据库还将用于寻找复杂疾病的药物靶点和解决药物基因组学问题。将公司设在冰岛直接有利于就业和投资回报方面的人口，并为医疗保健系统提供可用于预防医学和优化冰岛医疗保健的信息资源。
The family has proven the most appropriate unit with which to study Mendelian diseases. There are, however, certain limitations on the use of the family as a fundamental unit in the study of common diseases, most of which are complex genetic diseases. The groups that are most likely to yield the genetics of complex diseases are isolated populations with strong founder effects. Therefore, access to such populations is proving to be a precious resource in the work on the genetics of common diseases. The Icelandic population is an excellent population for the study of the genetics of common diseases; it is genetically homogeneous, with founder effects for many traits, and the genealogy of the entire nation is well documented back to the founding days. Furthermore, the nature of the Icelandic national health care system facilitates the assignment of phenotypes in the search for disease genes.Decode Genetics has begun to study of the genetics of 20 of the most common diseases in the Western parts of the world. The company has placed the groundwork for the construction of an encrypted database with information on the health care of the entire nation, genealogy of the entire nation, genotyping information with high density of markers on a large part of the nation (including typing for known disease genes), and resource use in the Icelandic health care system. The plan is to build the database with approval of participating individuals as well as Icelandic government and health care officials. The database will be used to model health care as viewed in the context of genetic predisposition to the development of disease. The database will also be used in the search for drug targets in complex diseases and in the solution of pharmacogenomic problems. Basing the company in Iceland directly benefits the population in terms of employment and return on investment as well as providing the health care system with an information resource which may be used in preventive medicine and in the optimization of health care in Iceland.