ArticleResearch square2026
Risk Haplotype of BTNL2 Predisposes Male Patients to NSTEMI: A Genetic and Functional Study.
Article in Research square, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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17 authors.
Funding
Abstract
Immunogenetic factors constitute major pathways contributing to the susceptibility to atherosclerosis and coronary artery disease. Through targeted whole-genome sequencing and replications in sex-specific cohorts with ST-elevation myocardial infarction (STEMI) or non-ST-elevation myocardial infarction (NSTEMI) we discovered a novel haplotype in the butyrophilin-like 2 (BTNL2) gene that predisposes men to NSTEMI. This risk haplotype is associated with the number and composition of extra-large high-density lipoproteins, and enhanced aggregation of low-density lipoproteins. Affected individuals have changes in BTNL2 expression. Furthermore, patients with risk haplotype and decreased BTNL2 serum concentration had improved survival. Our results identify BTNL2 as a compelling candidate gene in men with NSTEMI and suggest a previously unrecognized immuno-lipid regulatory mechanism contributing to disease susceptibility and outcome. The study highlights the importance of precise clinical characterisation and specific diagnoses in genetic studies of cardiovascular diseases.
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