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源自共同遗传和环境决定因素的常见人类疾病分类。

Classification of common human diseases derived from shared genetic and environmental determinants.

作者信息

Wang Kanix, Gaitsch Hallie, Poon Hoifung, Cox Nancy J, Rzhetsky Andrey

机构信息

Committee on Genetics, Genomics, and Systems Biology, University of Chicago, Chicago, Illinois, USA.

Institute of Genomics and Systems Biology, University of Chicago, Chicago, Illinois, USA.

出版信息

Nat Genet. 2017 Sep;49(9):1319-1325. doi: 10.1038/ng.3931. Epub 2017 Aug 7.

Abstract

In this study, we used insurance claims for over one-third of the entire US population to create a subset of 128,989 families (481,657 unique individuals). We then used these data to (i) estimate the heritability and familial environmental patterns of 149 diseases and (ii) infer the genetic and environmental correlations for disease pairs from a set of 29 complex diseases. The majority (52 of 65) of our study's heritability estimates matched earlier reports, and 84 of our estimates appear to have been obtained for the first time. We used correlation matrices to compute environmental and genetic disease classifications and corresponding reliability measures. Among unexpected observations, we found that migraine, typically classified as a disease of the central nervous system, appeared to be most genetically similar to irritable bowel syndrome and most environmentally similar to cystitis and urethritis, all of which are inflammatory diseases.

摘要

在本研究中,我们利用美国超过三分之一人口的保险理赔数据创建了一个包含128,989个家庭(481,657个独立个体)的子集。然后,我们使用这些数据来:(i)估计149种疾病的遗传度和家庭环境模式;(ii)从一组29种复杂疾病中推断疾病对之间的遗传和环境相关性。我们研究中的大多数(65个中的52个)遗传度估计与早期报告相符,并且我们的84个估计似乎是首次获得。我们使用相关矩阵来计算环境和遗传疾病分类以及相应的可靠性度量。在意外观察结果中,我们发现偏头痛通常被归类为中枢神经系统疾病,但其在遗传上似乎与肠易激综合征最为相似,在环境上与膀胱炎和尿道炎最为相似,而这两种疾病均为炎症性疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0e9/5577363/c8ccd78b4c65/nihms892574f1.jpg

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