Profiling phenome-wide associations: a population-based observational study

Shabbir Syed-Abdul, Max Moldovan, Phung Anh Nguyen, Ruslan Enikeev, Wen Shan Jian, Iqbal Usman, Min Huei Hsu, Yu Chuan Li

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

OBJECTIVES: To objectively characterize phenome-wide associations observed in the entire Taiwanese population and represent them in a meaningful, interpretable way.

STUDY DESIGN: In this population-based observational study, we analyzed 782 million outpatient visits and 15 394 unique phenotypes that were observed in the entire Taiwanese population of over 22 million individuals. Our data was obtained from Taiwan's National Health Insurance Research Database.Results We stratified the population into 20 gender-age groups and generated 28.8 million and 31.8 million pairwise odds ratios from male and female subpopulations, respectively. These associations can be accessed online at http://associations.phr.tmu.edu.tw. To demonstrate the database and validate the association estimates obtained, we used correlation analysis to analyze 100 phenotypes that were observed to have the strongest positive association estimates with respect to essential hypertension. The results indicated that association patterns tended to have a strong positive correlation between adjacent age groups, while correlation estimates tended to decline as groups became more distant in age, and they diverged when assessed across gender groups.

CONCLUSIONS: The correlation analysis of pairwise disease association patterns across different age and gender groups led to outcomes that were broadly predicted before the analysis, thus confirming the validity of the information contained in the presented database. More diverse individual disease-specific analyses would lead to a better understanding of phenome-wide associations and empower physicians to provide personalized care in terms of predicting, preventing, or initiating an early management of concomitant diseases.

Original languageEnglish
Pages (from-to)896-899
Number of pages4
JournalJournal of the American Medical Informatics Association
Volume22
Issue number4
DOIs
Publication statusPublished - Jul 1 2015

Fingerprint

Observational Studies
Age Groups
Databases
Population
Phenotype
National Health Programs
Disease Management
Taiwan
Outpatients
Odds Ratio
Physicians
Research

Keywords

  • association
  • disease complications
  • electronic health records
  • phenotype

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Profiling phenome-wide associations : a population-based observational study. / Syed-Abdul, Shabbir; Moldovan, Max; Nguyen, Phung Anh; Enikeev, Ruslan; Jian, Wen Shan; Usman, Iqbal; Hsu, Min Huei; Li, Yu Chuan.

In: Journal of the American Medical Informatics Association, Vol. 22, No. 4, 01.07.2015, p. 896-899.

Research output: Contribution to journalArticle

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