AUTHOR=Lai Hongmei , Zhu Jinhang , Tao Jing , Guo Zitong , Yu Xiaolin , Shen Xin , Wang Ting , Wang Ying , Cai Huan , Cai Xiao , Wei Zhenbang , Yang Yining 

TITLE=Population-specific genetic differences of acute coronary syndrome in Han and Uyghur Chinese

JOURNAL=Frontiers in Pharmacology

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/pharmacology/articles/10.3389/fphar.2025.1588658

DOI=10.3389/fphar.2025.1588658

ISSN=1663-9812

ABSTRACT=BackgroundAcute coronary syndrome (ACS) is a critical cardiovascular condition with diverse clinical presentations, necessitating personalized therapeutic approaches. This study explores the genetic variation associated with ACS subtypes in the Han and Uyghur Chinese populations to support the development of precision medicine approaches tailored to ethnic-specific genetic backgrounds.MethodsA total of 985 ACS patients (668 Han and 317 Uyghur Chinese) representing different ACS subtypes were enrolled. Clinical characteristics and 66 genetic polymorphisms were analyzed. Statistical analyses were conducted to identify differences in genetic variants and clinical features across ACS subtypes and ethnic groups.ResultsSignificant clinical and genetic differences were observed between ACS subtypes and between ethnic groups. In the Han population, polymorphisms in CYP2D6 and PTGER3 were significantly associated with ACS subtypes (p ≤ 0.05). In the Uyghur population, six genes—ACY3, CACNA1C, CYP2C9, CYP2C19, CYP4F2, and VKORC1—showed significant associations (p ≤ 0.05). These findings indicate distinct genetic landscapes across the two ethnic groups. Furthermore, population-specific associations between genetic variants and artery narrowing were identified. Predictive models integrating clinical and genetic features achieved an area under the curve (AUC) of 0.832 [95% confidence intervals (CI): 0.774–0.889] in Uyghur patients and 0.674 (95% CI: 0.626–0.722) in Han patients, indicating a higher internal AUC of these genetic markers in the Uyghur population.ConclusionThis study highlights ethnic differences in the genetic architecture of ACS. The result also underscores the need for population-specific strategies in risk stratification and treatment. The identified genetic markers and predictive models may guide future research on ethnicity-specific risk stratification.