2026-03-132026-03-13Bañares, V., Martini, J., López, G., Corral, P., & Schreier, L. (2024). Application of the 6-SNP elevated LDL-cholesterol polygenic risk score in individuals with familial hypercholesterolemia phenotype from an Argentine population. Aplicación de la puntuación de riesgo poligénico de colesterol-LDL elevado de seis SNP en población argentina con fenotipo de hipercolesterolemia familiar. Gaceta medica de Mexico, 160(4), 413–419. https://doi.org/10.24875/GMM.M240009182696-1288https://dspace.ufasta.edu.ar/handle/123456789/87932Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes. Objective: we applied a GRS of 6-SNP (GRS-6) in HS individuals. Material and methods: 69 subjects from the Familial Hypercholesterolemia (HF) Detection registry in Argentina (Da Vinci). Results: with 44 individuals with HF-phenotype, not carriers of genetic variants that indicate a monogenic origin (HF/M−) and 26 controls, the GRS-6 cut-off value was established, > 0.76, sensitivity 0.59, specificity 0.69. 15/44(34 %) HF/M− presented GRS-6+. The mean GRS-6 values in HF/M−, HF/M+ and controls were 0.72 ± 0.17, 0.66 ± 0.17, and 0.70 ± 0.13 respectively (p = 0.43). There were no significant differences in cholesterol values, or in the clinical score, between cases with positive vs negative GRS-6. The GRS-6 was positive in 32 % of the cases vs 20 % of the previously applied GRS10 (p = 0.003), significantly increasing the detection of polygenic contribution. Conclusions: We present an estimate of the first cut-off value for the GRS-6 in a Latin American population, and we conclude that the GRS-6 could contribute to the evaluation of the polygenic contribution in cases with severe hypercholesterolemia in our population in a similar way to that of other European populations.Fil: Bañares, Virginia. Administración Nacional de Laboratorios e Institutos de Salud “Dr Carlos Malbrán”. Centro Nacional de Genética Médica. Departamento de Genética Experimental; Argentina.Fil: Martini, Javier. Administración Nacional de Laboratorios e Institutos de Salud “Dr Carlos Malbrán”. Centro Nacional de Genética Médica. Departamento de Genética Clínica; Argentina.Fil: López Graciela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Bioquímica Clínica. Laboratorio de Lípidos y Aterosclerosis; Argentina.Fil: Corral, Pablo. Universidad FASTA. Facultad de Ciencia Médicas; Argentina.Fil: Schreier, Laura. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Bioquímica Clínica. Laboratorio de Lípidos y Aterosclerosis; Argentina.Fil: Corral, Pablo. Instituto de Investigaciones Clínicas; Argentina.application/pdfinfo:eu-repo/semantics/openAccesshttp://creativecommons.org/licences/by-nc-nd/3.0/deed.es_ARHipercolesterolemia familiarHipercolesterolemia poligénicaHipercolesterolemia gravePuntuación de riesgo poligénicoinfo:eu-repo/semantics/article