The Evolving Genetic Landscape of Metabolic Syndrome: A Bibliometric Analysis and Systematic Evidence Map toward Precision Prevention and Health-System Resilience
DOI:
https://doi.org/10.22437/proca.v2i3.59974Keywords:
metabolic syndrome; genetic variation; bibliometric analysis; evidence mapping; health-system resilienceAbstract
Genetic research on metabolic syndrome (MetS) has expanded from candidate variants toward genome-wide, interaction-based, polygenic, and predictive approaches, yet the coherence and transferability of direct variant-level evidence remain uncertain. To characterize the temporal, thematic, methodological, and geographic development of MetS genetic research and systematically map direct evidence in adults. Scopus and PubMed searches produced 1,453 deduplicated records. Title-abstract screening retained 506 records, 488 full texts were assessed, and file-level and article-level verification yielded 487 unique articles for bibliometric profiling. A nested evidence map included 246 original adult human studies reporting direct inherited variant-MetS associations; 15 additional articles were retained as contextual evidence. Publication output increased from seven articles in 1996-2004 to 151 in 2020-2024 and peaked in 2024 with 43 articles. Candidate-gene or single-variant research remained the largest bibliometric category (238/487; 48.9%), although genome-wide, interaction, Mendelian-randomization, prediction, and omics approaches increased. Direct evidence was concentrated in Asia (150/246; 61.0%), particularly China, South Korea, and Iran. APOA5, ADIPOQ, FTO, LPL, and CETP were the most recurrent genes; FTO rs9939609 and APOA5 rs662799 were the most frequently investigated variants. Among 95 studies with structured result coding, mixed or conditional findings predominated. Conclusion: MetS genetic research is expanding and diversifying, but replication, cross-population validation, standardized outcome definitions, and clinical translation lag behind publication growth. Locally validated, ancestry-aware genetic evidence integrated with modifiable exposures may support equitable precision prevention and health-system resilience, but current findings do not justify routine genotype-guided care.
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Copyright (c) 2026 Anggelia Puspasari Puspasari, Maharani, Rosdiana Mus, Rina Nofri Enis Enis, Rita Halim Halim, Tengku Arief Buana Perkasa Perkasa, Afifah Amatullah Amatullah, Amelia Dwi Fitri Fitri, Nyimas Natasha Ayu Shafira Shafira
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