EP_080. Mapping of genetic polymorphisms in cardiovascular disease: A bibliometric study with relevance to Malaysia

Rd. Aidifitrina Khirotdin^1,2*, Vasudevan Ramachandran^1,3,4*, Mohd Nazil Salleh¹

1. Faculty of Health Sciences, University College of MAIWP International, Taman Batu Muda, 68100 Batu Caves, Kuala Lumpur, Malaysia

2. Center Pre-Clinical Science Studies, Faculty of Dentistry, UiTM Sg.Buloh Campus, Jalan Hospital, 47000 Sg.Buloh Selangor, Malaysia

3. Department of Conservative Dentistry and Endodontics, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, India

4. Malaysian Research Institute on Ageing, University Putra Malaysia, 43400 Serdang, Selangor, Malaysia

*Corresponding author: Rd. Aidifitrina Khirotdin. This email address is being protected from spambots. You need JavaScript enabled to view it.,  Vasudevan Ramachandran. This email address is being protected from spambots. You need JavaScript enabled to view it. 

ABSTRACT

INTRODUCTION: Cardiovascular disease (CVD) continues to be the leading cause of death worldwide, including in Malaysia. In recent years, growing attention has turned to the role of genetic polymorphisms, particularly single-nucleotide polymorphisms (SNPs), in influencing individual risks of developing CVD and shaping responses to treatment.  However, a comprehensive synthesis of global research trends and key evidence in this domain is lacking, particularly in the Malaysian context.

OBJECTIVE(S): This study aimed to map the global scientific landscape and synthesise high-impact literature on genetic polymorphisms associated with CVD using an integrated bibliometric approach, while identifying research gaps relevant to Malaysia’s diverse population.

MATERIALS & METHODS: Bibliometric data were extracted from Scopus, PubMed and Web of Science (1999 to July 2025), and analysed using VOSviewer and Bibliometrix R-package to assess publication trends, source impact, authorship patterns, and keyword evolution, focusing on studies reporting SNP-CVD associations.

RESULTS: A total of 1,275 articles were analysed, revealing exponential growth in publication and citation metrics post-2015. High-impact sources included Nature Genetics and Circulation, while top-cited studies focused on genome-wide association studies (GWAS) and SNP-based risk models. Collaborative authorship dominated, with limited representation from Malaysia. Key genes identified include methylenetetrahydrofolate reductase (MTHFR), apolipoprotein E (APOE), angiotensin-converting enzyme (ACE), and interleukin-6 (IL-6).

CONCLUSION: This study provides a strategic overview of global CVD polymorphism research and uncovers underrepresented regional data. It emphasises the need for Malaysia to invest in genomic surveillance, population-specific studies, and international research consortia to strengthen its precision cardiology initiatives.

KEYWORDS: Bibliometric, Cardiovascular Disease, Single Nucleotide Polymorphisms