Suppr超能文献

利用流行病学和临床数据集进行复杂性状的基因组研究。

Leveraging Epidemiologic and Clinical Collections for Genomic Studies of Complex Traits.

作者信息

Crawford Dana C, Goodloe Robert, Farber-Eger Eric, Boston Jonathan, Pendergrass Sarah A, Haines Jonathan L, Ritchie Marylyn D, Bush William S

机构信息

Department of Epidemiology and Biostatistics, Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio, USA.

出版信息

Hum Hered. 2015;79(3-4):137-46. doi: 10.1159/000381805. Epub 2015 Jul 28.

Abstract

BACKGROUND/AIMS: Present-day limited resources demand DNA and phenotyping alternatives to the traditional prospective population-based epidemiologic collections.

METHODS

To accelerate genomic discovery with an emphasis on diverse populations, we--as part of the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study--accessed all non-European American samples (n = 15,863) available in BioVU, the Vanderbilt University biorepository linked to de-identified electronic medical records, for genomic studies as part of the larger Population Architecture using Genomics and Epidemiology (PAGE) I study. Given previous studies have cautioned against the secondary use of clinically collected data compared with epidemiologically collected data, we present here a characterization of EAGLE BioVU, including the billing and diagnostic (ICD-9) code distributions for adult and pediatric patients as well as comparisons made for select health metrics (body mass index, glucose, HbA1c, HDL-C, LDL-C, and triglycerides) with the population-based National Health and Nutrition Examination Surveys (NHANES) linked to DNA samples (NHANES III, n = 7,159; NHANES 1999-2002, n = 7,839).

RESULTS

Overall, the distributions of billing and diagnostic codes suggest this clinical sample is a mixture of healthy and sick patients like that expected for a contemporary American population.

CONCLUSION

Little bias is observed among health metrics, suggesting this clinical collection is suitable for genomic studies along with traditional epidemiologic cohorts.

摘要

背景/目的:在当前资源有限的情况下,需要有DNA和表型分析的替代方法,以取代传统的基于前瞻性人群的流行病学数据收集方式。

方法

为了加速基因组发现研究,重点关注不同人群,作为“环境相关基因的流行病学架构”(EAGLE)研究的一部分,我们获取了BioVU中所有非欧裔美国人样本(n = 15,863)用于基因组研究。BioVU是范德堡大学的生物样本库,与去识别化的电子病历相关联,是规模更大的“利用基因组学和流行病学构建人群架构”(PAGE)I研究的一部分。鉴于先前的研究曾告诫,与流行病学收集的数据相比,临床收集的数据二次使用存在问题,我们在此展示了EAGLE BioVU的特征,包括成人和儿童患者的计费和诊断(ICD - 9)代码分布,以及与基于人群的、与DNA样本相关的美国国家健康和营养检查调查(NHANES)(NHANES III,n = 7,159;NHANES 1999 - 2002,n = 7,839)在选定健康指标(体重指数、血糖、糖化血红蛋白、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇和甘油三酯)方面的比较。

结果

总体而言,计费和诊断代码的分布表明,该临床样本是健康和患病患者的混合体,与当代美国人群的预期情况相符。

结论

在健康指标方面几乎未观察到偏差,这表明该临床样本集与传统流行病学队列一样,适用于基因组研究。

相似文献

1
Leveraging Epidemiologic and Clinical Collections for Genomic Studies of Complex Traits.
Hum Hered. 2015;79(3-4):137-46. doi: 10.1159/000381805. Epub 2015 Jul 28.
7
Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies.
PLoS One. 2015 Jun 10;10(6):e0127817. doi: 10.1371/journal.pone.0127817. eCollection 2015.
8
Replication of Associations with Electrocardio-graphic Traits in African Americans from Clinical and Epidemiologic Studies.
Evol Comput Mach Learn Data Min Bioinform. 2014;2014:939-951. doi: 10.1007/978-3-662-45523-4_76.
9
Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry.
BioData Min. 2015 Nov 11;8:35. doi: 10.1186/s13040-015-0068-y. eCollection 2015.

引用本文的文献

1
Assessment of multi-population polygenic risk scores for lipid traits in African Americans.
PeerJ. 2023 May 16;11:e14910. doi: 10.7717/peerj.14910. eCollection 2023.
3
Replication of European hypertension associations in a case-control study of 9,534 African Americans.
PLoS One. 2021 Nov 18;16(11):e0259962. doi: 10.1371/journal.pone.0259962. eCollection 2021.
8
Hi-MC: a novel method for high-throughput mitochondrial haplogroup classification.
PeerJ. 2018 Jun 25;6:e5149. doi: 10.7717/peerj.5149. eCollection 2018.

本文引用的文献

4
Defining the role of common variation in the genomic and biological architecture of adult human height.
Nat Genet. 2014 Nov;46(11):1173-86. doi: 10.1038/ng.3097. Epub 2014 Oct 5.
6
Association of cancer susceptibility variants with risk of multiple primary cancers: The population architecture using genomics and epidemiology study.
Cancer Epidemiol Biomarkers Prev. 2014 Nov;23(11):2568-78. doi: 10.1158/1055-9965.EPI-14-0129. Epub 2014 Aug 19.
9
Accuracy of administratively-assigned ancestry for diverse populations in an electronic medical record-linked biobank.
PLoS One. 2014 Jun 4;9(6):e99161. doi: 10.1371/journal.pone.0099161. eCollection 2014.
10
Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia.
Carcinogenesis. 2014 Sep;35(9):2068-73. doi: 10.1093/carcin/bgu107. Epub 2014 May 15.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验