Clinical impact of pharmacogenetic risk variants in a large chinese cohort

C Chun-yu Wei M Ming-Shien Wen C Chih-Kuang Cheng Y Yi-Jing Sheen T Tsung-Chieh Yao S Sing-Lian Lee J Jer-Yuarn Wu M Ming-Fang Tsai L Ling-Hui Li C Chun-houh Chen C Cathy S.-J. Fann H Hsin-Chou Yang Y Yen-Tsung Huang H Hung-Hsin Chen Y Yi-Min Liu E Erh-Chan Yeh Y Yu-Ching Peng S Shuu-Jiun Wang S Shih-Pin Chen M Ming-Tsun Tsai T Teh-Ia Huo C Chien-Wei Su D Der-Cherng Tarng C Chin-Chou Huang J Jong-Ling Fuh K Keng-Hsin Lan Y Yo-Tsen Liu C Ching-Liang Lu Y Yi-Chung Lee Y Yi-Hsiang Huang C Chung-Pin Li Y Yen-Feng Wang Y Yu-Cheng Hsieh Y Yi-Ming Chen T Tzu-Hung Hsiao C Ching-Heng Lin Y Yen-Ju Chen I I-Chieh Chen C Chien-Lin Mao S Shu-Jung Chang Y Yen-Lin Chang Y Yi-Ju Liao C Chih-Hung Lai W Wei-Ju Lee H Hsin Tung T Ting-Ting Yen H Hsin-Chien Yen J Jer-Hwa Chang C Chun-Yao Huang L Lung Chan Y Yung-Wei Lin B Bu-Yuan Hsiao C Chaur-Jong Hu Y Yung-Kuo Lin Y Yung-Feng Lin T Tung-Cheng Chang D Deng-Chyang Wu J Jung-Yu Kan C Chung-Yao Hsu S Szu-Chia Chen C Ching-Chia Li C Chung-Feng Huang C Chau-Chyun Sheu L Lii-Jia Yang C Chung-Hwan Chen K Kuan-Mao Chen S Shu-Min Chang M Min-Shiuan Liou S Shi-Ping Wang K Kuan-Ting Lin H Hui-Ping Chuang Y Ying-Ju Chen J Joey Sin Y Ying-Ting Chen C Chiung-Chih Chang C Chang-Fu Kuo J Jing-Chi Lin H Ho-Chang Kuo T Tien-Min Chan C Chao-Wei Lee J Jenn-Haung Lai S Shue-Fen Luo H Hao-Tsai Cheng L Lian-Yu Lin L Li-Chun Chang C Chia-Ti Tsai H Hsien-Li Kao J Jian-Jyun Yu J Jiann-Shing Jeng M Min-Chin Chiu T Tzu-Chan Hong S Shun-Fa Yang H Hsueh-Ju Lu S Sheng-Chiang Su P Pauling Chu P Peng-Fei Li (Ordered Matter Science Research Center) C Chia-Lin Tsai C Chia-Kuang Tsai S Shih-En Tang C Chien-Ming Lin Y Yung-Fu Wu C Chih-Yang Huang S Shinn-Zong Ling C Chun-Chun Chang T Tzu-Kai Lin S Sheng-Mou Hsiao C Chih-Hung Chang C Chih-Dao Chen G Gwo-Chin Ma T Ting-Yu Chang J Juey-Jen Hwang C Chien-Lin Lu K Kuo-Jang Kao C Chen-Fang Hung S Shiou-Sheng Chen P Po-Yueh Chen K Kochung Tsui Y Yuan-Tsong Chen C Chien-Hsiun Chen C Chih-Cheng Chien H Han-Sun Chiang Y Yen-Ling Chiu (Division of Nephrology, Department of Medicine, Far Eastern Memorial Hospital) H Hsiang-Cheng Chen P Pui-Yan Kwok

Abstract

Abstract Incorporating pharmacogenetics into clinical practice promises to improve therapeutic outcomes by optimizing drug selection and dosage based on genetic factors affecting drug response. A key advantage of PGx-guided therapy is to decrease the likelihood of adverse events. To evaluate the clinical impact of PGx risk variants, we performed a retrospective study using genetic and clinical data from the largest Han Chinese cohort, comprising 486,956 individuals, assembled by the Taiwan Precision Medicine Initiative. We found that nearly all participants carried at least one genetic variant that could affect drug response, with many carrying multiple risk variants. Here we show the detailed analyses of four gene-drug pairs, azathioprine ( NUDT15 / TPMT ), clopidogrel ( CYP2C19 ), statins ( ABCG2 / CYP2C9 / SLCO1B1 ), and NSAIDs ( CYP2C9 ), for which sufficient data exists for statistical power. While the results validate previous findings that PGx risk variants are significantly associated with drug-related adverse events or ineffectiveness, the excess risk of adverse events or lack of efficacy is small compared to that found in those without the PGx risk variants, and most patients with PGx variants do not suffer from adverse events. Our results point to the complexity of implementing PGx in clinical practice and the need for integrative approaches to optimize precision medicine.

Article Details

Volume / Issue Vol. 16, Issue 1
Published July 09, 2025
ISSN 2041-1723
Publisher Nature Portfolio

Journal Info

Nature Communications

Nature Portfolio

ISSN: 2041-1723 Open Access Life Sciences

Authors (124)

C

Chun-yu Wei

M

Ming-Shien Wen

C

Chih-Kuang Cheng

Y

Yi-Jing Sheen

T

Tsung-Chieh Yao

S

Sing-Lian Lee

J

Jer-Yuarn Wu

M

Ming-Fang Tsai

L

Ling-Hui Li

C

Chun-houh Chen

C

Cathy S.-J. Fann

H

Hsin-Chou Yang

Y

Yen-Tsung Huang

H

Hung-Hsin Chen

Y

Yi-Min Liu

E

Erh-Chan Yeh

Y

Yu-Ching Peng

S

Shuu-Jiun Wang

S

Shih-Pin Chen

M

Ming-Tsun Tsai

T

Teh-Ia Huo

C

Chien-Wei Su

D

Der-Cherng Tarng

C

Chin-Chou Huang

J

Jong-Ling Fuh

K

Keng-Hsin Lan

Y

Yo-Tsen Liu

C

Ching-Liang Lu

Y

Yi-Chung Lee

Y

Yi-Hsiang Huang

C

Chung-Pin Li

Y

Yen-Feng Wang

Y

Yu-Cheng Hsieh

Y

Yi-Ming Chen

T

Tzu-Hung Hsiao

C

Ching-Heng Lin

Y

Yen-Ju Chen

I

I-Chieh Chen

C

Chien-Lin Mao

S

Shu-Jung Chang

Y

Yen-Lin Chang

Y

Yi-Ju Liao

C

Chih-Hung Lai

W

Wei-Ju Lee

H

Hsin Tung

T

Ting-Ting Yen

H

Hsin-Chien Yen

J

Jer-Hwa Chang

C

Chun-Yao Huang

L

Lung Chan

Y

Yung-Wei Lin

B

Bu-Yuan Hsiao

C

Chaur-Jong Hu

Y

Yung-Kuo Lin

Y

Yung-Feng Lin

T

Tung-Cheng Chang

D

Deng-Chyang Wu

J

Jung-Yu Kan

C

Chung-Yao Hsu

S

Szu-Chia Chen

C

Ching-Chia Li

C

Chung-Feng Huang

C

Chau-Chyun Sheu

L

Lii-Jia Yang

C

Chung-Hwan Chen

K

Kuan-Mao Chen

S

Shu-Min Chang

M

Min-Shiuan Liou

S

Shi-Ping Wang

K

Kuan-Ting Lin

H

Hui-Ping Chuang

Y

Ying-Ju Chen

J

Joey Sin

Y

Ying-Ting Chen

C

Chiung-Chih Chang

C

Chang-Fu Kuo

J

Jing-Chi Lin

H

Ho-Chang Kuo

T

Tien-Min Chan

C

Chao-Wei Lee

J

Jenn-Haung Lai

S

Shue-Fen Luo

H

Hao-Tsai Cheng

L

Lian-Yu Lin

L

Li-Chun Chang

C

Chia-Ti Tsai

H

Hsien-Li Kao

J

Jian-Jyun Yu

J

Jiann-Shing Jeng

M

Min-Chin Chiu

T

Tzu-Chan Hong

S

Shun-Fa Yang

H

Hsueh-Ju Lu

S

Sheng-Chiang Su

P

Pauling Chu

P

Peng-Fei Li

Ordered Matter Science Research Center

C

Chia-Lin Tsai

C

Chia-Kuang Tsai

S

Shih-En Tang

C

Chien-Ming Lin

Y

Yung-Fu Wu

C

Chih-Yang Huang

S

Shinn-Zong Ling

C

Chun-Chun Chang

T

Tzu-Kai Lin

S

Sheng-Mou Hsiao

C

Chih-Hung Chang

C

Chih-Dao Chen

G

Gwo-Chin Ma

T

Ting-Yu Chang

J

Juey-Jen Hwang

C

Chien-Lin Lu

K

Kuo-Jang Kao

C

Chen-Fang Hung

S

Shiou-Sheng Chen

P

Po-Yueh Chen

K

Kochung Tsui

Y

Yuan-Tsong Chen

C

Chien-Hsiun Chen

C

Chih-Cheng Chien

H

Han-Sun Chiang

Y

Yen-Ling Chiu

Division of Nephrology, Department of Medicine, Far Eastern Memorial Hospital

H

Hsiang-Cheng Chen

P

Pui-Yan Kwok