A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations.
A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations.
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DOI：
10.3389/fgene.2021.680560
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发表时间：
2021
影响因子：
3.7
通讯作者：
Suh Y
中科院分区：
文献类型：
--
作者：
Kim SS;Hudgins AD;Gonzalez B;Milman S;Barzilai N;Vijg J;Tu Z;Suh Y
来自全基因组关联研究（GWAS）和全表型关联研究（PheWAS）的丰富数据为确定年龄相关疾病（ARD）风险和多发病的生物学基础提供了前所未有的机会。然而，令人惊讶的是，由于缺乏明确的定义和选择标准，仍然没有一个全面的抗逆转录病毒药物清单。我们开发了一种方法来识别ARDs，并提供了一个概要ARDs的遗传关联研究。查询1,358个电子病历衍生的特征，我们首先根据其患病率特征定义了ARDs和年龄相关特征（ART），要求单峰分布显示40岁后患病率增加，并在60岁或更高时达到最大峰值。因此，我们在GWAS和PheWAS目录中确定了463个ARD和ART的列表。接下来，我们将ARD和ART翻译为各自的276个医学主题词疾病和45个解剖学术语。最丰富的疾病类别是肿瘤（48个术语）、心血管疾病（44个术语）和神经系统疾病（27个术语）。利用来自人类疾病网络的数据，我们发现了6种常见疾病组，分别代表癌症、心脏病、脑部疾病、关节疾病、眼科疾病和混合疾病。最后，通过将我们的ARD和ART列表与来自英国生物库的遗传相关性数据叠加，我们在2个具有高遗传相关性的聚类中发现了54种表型。我们的ARD和ART纲要是一个非常有用的资源，具有广泛的适用性，为研究遗传学的老化，ARD，和multimorphine。
The rich data from the genome-wide association studies (GWAS) and phenome-wide association studies (PheWAS) offer an unprecedented opportunity to identify the biological underpinnings of age-related disease (ARD) risk and multimorbidity. Surprisingly, however, a comprehensive list of ARDs remains unavailable due to the lack of a clear definition and selection criteria. We developed a method to identify ARDs and to provide a compendium of ARDs for genetic association studies. Querying 1,358 electronic medical record-derived traits, we first defined ARDs and age-related traits (ARTs) based on their prevalence profiles, requiring a unimodal distribution that shows an increasing prevalence after the age of 40 years, and which reaches a maximum peak at 60 years of age or later. As a result, we identified a list of 463 ARDs and ARTs in the GWAS and PheWAS catalogs. We next translated the ARDs and ARTs to their respective 276 Medical Subject Headings diseases and 45 anatomy terms. The most abundant disease categories are neoplasms (48 terms), cardiovascular diseases (44 terms), and nervous system diseases (27 terms). Employing data from a human symptoms-disease network, we found 6 symptom-shared disease groups, representing cancers, heart diseases, brain diseases, joint diseases, eye diseases, and mixed diseases. Lastly, by overlaying our ARD and ART list with genetic correlation data from the UK Biobank, we found 54 phenotypes in 2 clusters with high genetic correlations. Our compendium of ARD and ART is a highly useful resource, with broad applicability for studies of the genetics of aging, ARD, and multimorbidity.
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影响因子：
46.9
作者：
通讯作者：
--
影响因子：
4.6
作者：
Caballero FF;Soulis G;Engchuan W;Sánchez-Niubó A;Arndt H;Ayuso-Mateos JL;Haro JM;Chatterji S;Panagiotakos DB
通讯作者：
Panagiotakos DB
影响因子：
14.9
作者：
Buniello, Annalisa;MacArthur, Jacqueline A. L.;Parkinson, Helen
通讯作者：
Parkinson, Helen
人体症状-疾病网
影响因子：
16.6
作者：
Zhou, XueZhong;Menche, Joerg;Sharma, Amitabh
通讯作者：
Sharma, Amitabh
DOI：
10.1093/gerona/glr223
发表时间：
2012-04-01
影响因子：
5.1
作者：
Andersen, Stacy L.;Sebastiani, Paola;Perls, Thomas T.
通讯作者：
Perls, Thomas T.