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ORIGINAL RESEARCH article

Front. Genet.

Sec. Genetics of Common and Rare Diseases

Volume 16 - 2025 | doi: 10.3389/fgene.2025.1543963

Geographical Distribution of ALDH2 rs671 Polymorphism in Chinese angina pectoris Patients

Provisionally accepted
Wenjia  DongWenjia DongJunjie  YuJunjie YuSiqi  XuSiqi Xu*Hongsheng  LiHongsheng Li*
  • Second Hospital of Jiaxing City, Jiaxing, Zhejiang Province, China

The final, formatted version of the article will be published soon.

Background: Mitochondrial acetaldehyde dehydrogenase 2 (ALDH2) plays a critical role in the metabolism of ethanol and nitroglycerin. Mutations in ALDH2 reduce enzymatic activity, impairing nitroglycerin metabolism. ALDH2 genetic polymorphisms exhibit significant regional variations across China. This study investigates the distribution of ALDH2 allelic and genotypic frequencies in patients with angina pectoris across northern (Luoyang, Henan), eastern (Jiaxing, Zhejiang), and southern (Guilin, Guangxi) China, and explores the relationship between ALDH2 genotypes and selected clinical characteristics. Materials and Methods: A total of 1,084 angina pectoris patients were recruited from the three aforementioned regions. ALDH2 genotyping was performed using fluorescence quantitative PCR, and associations between genotypes and clinical characteristics, such as smoking and alcohol consumption histories, were analyzed. Results: The geographical distribution of the ALDH2 rs671 G→A mutation showed a significant increase in mutation frequency from northern to southern China. Genotypic distributions differed significantly across regions, with GG being predominant in northern China and higher frequencies of GA and AA observed in southern regions. Additionally, lifestyle factors such as smoking and alcohol consumption were significantly associated with the presence of the A allele, reflecting the interplay between genetics and environmental influences. Conclusion: This study reveals significant regional differences in ALDH2 rs671 polymorphism and its association with lifestyle factors in angina pectoris patients across China. Since the ALDH2*2 variant markedly reduces the metabolic activation of nitroglycerin, these findings have important clinical implications: in regions with a higher prevalence of the A allele, patients may exhibit reduced therapeutic response to nitroglycerin. This highlights the need for region-specific and genotype-informed strategies in the management of angina pectoris.

Keywords: ALDH2 polymorphism, Angina Pectoris, regional variation, Clinical Characteristics, Nitroglycerin

Received: 12 Dec 2024; Accepted: 18 Aug 2025.

Copyright: © 2025 Dong, Yu, Xu and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence:
Siqi Xu, Second Hospital of Jiaxing City, Jiaxing, 314000, Zhejiang Province, China
Hongsheng Li, Second Hospital of Jiaxing City, Jiaxing, 314000, Zhejiang Province, China

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