TY - JOUR
T1 - Profiling phenome-wide associations
T2 - A population-based observational study
AU - Syed-Abdul, Shabbir
AU - Moldovan, Max
AU - Nguyen, Phung Anh
AU - Enikeev, Ruslan
AU - Jian, Wen Shan
AU - Iqbal, Usman
AU - Hsu, Min Huei
AU - Li, Yu Chuan
N1 - Publisher Copyright:
© The Author 2015.
PY - 2015/7/1
Y1 - 2015/7/1
N2 - 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.
AB - 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.
KW - Association
KW - Disease complications
KW - Electronic health records
KW - Phenotype
UR - http://www.scopus.com/inward/record.url?scp=84952309640&partnerID=8YFLogxK
U2 - 10.1093/jamia/ocu019
DO - 10.1093/jamia/ocu019
M3 - Article
C2 - 25656518
AN - SCOPUS:84952309640
SN - 1067-5027
VL - 22
SP - 896
EP - 899
JO - Journal of the American Medical Informatics Association
JF - Journal of the American Medical Informatics Association
IS - 4
ER -