Characterization of LDLR rs5925 and PCSK9 rs505151 genetic variants frequencies in healthy subjects from northern Chile: Influence on plasma lipid levels

Vista sencilla de ítem
dc.contributor.authorClaudio Rojas
dc.contributor.authorHugo Ramírez
dc.contributor.authorLuis A. Salazar
dc.contributor.authorAlexis M. Kalergis
dc.contributor.authorAnita S. Gálvez
dc.contributor.authorJorge Escobar‐Vera
dc.date.accessioned2026-01-12T18:00:37Z
dc.date.available2026-01-12T18:00:37Z
dc.date.issued2019
dc.description.abstractBackground: Identification and characterization of genetic variants and their effects on human health may allow to establish relationships between genetic background and susceptibility to developing cardiovascular diseases. LDLR and PCSK9 polymorphisms have been associated with higher lipid levels and risk of cardiovascular diseases. Thus, the main aim of this study was to evaluate genotype distribution and relative allelic frequency of LDLR rs5925 (1959C > T) and PCSK9 rs505151 (23968 A > G) genetic variants and their effects on lipid levels of healthy subjects from northern Chile. Methods: A total of 178 healthy individuals were recruited for this study. The genotyping of rs5925 (LDLR) and rs505151 (PCSK9) polymorphisms was performed by PCR‐RFLP and qPCR, respectively. In addition, glucose and lipid levels were determined and associated with the genetic data. Results: Genotype distribution for LDLR rs5925 polymorphism was as follows: CC = 19%; CT = 53%; and TT = 28% (HWE: χ2 = 0.80; P = .37), and for PCSK9 rs505151 genetic variant was as follows: AA = 93%; AG = 7%; and GG = 0% (HWE: χ2 = 0.22; P = .64). The frequency of T (rs5925) and G (rs505151) mutated alleles was 0.55 and 0.03, respectively. Data showed that individuals carrying LDLR mutated allele (T) presented lower values of total cholesterol, triglycerides, and LDL‐cholesterol when compared to CC homozygous genotype (P < .05). Subgroup analysis revealed that women carrying the PCSK9 mutated allele (G) exhibited higher values of total cholesterol, triglycerides, HDL‐C, and LDL‐C when compared to male group carrying the same genotype (P<05). Conclusions: The effect of LDLR rs5925 and PCSK9 rs505151 gene polymorphisms on lipid levels is associated with gender among healthy subjects from northern Chile.
dc.description.sponsorshipGrant No 5311.Programa Semilleros de Investigación. DGI.VRIIP. Universidad de Antofagasta
dc.identifier.doi10.1002/jcla.23001
dc.identifier.issn08878013
dc.identifier.urihttps://repositorioabierto.uantof.cl/handle/uantof/606
dc.language.isoen
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internationalen
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceJournal of Clinical Laboratory Analysis
dc.titleCharacterization of LDLR rs5925 and PCSK9 rs505151 genetic variants frequencies in healthy subjects from northern Chile: Influence on plasma lipid levels
dc.typeArticle
oaire.citation.volume33
organization.identifier.rorUniversidad de Antofagasta
uantof.identificator.departmentDepartamento Biomédico
uantof.identificator.facultyFacultad de Ciencias de la Salud
Archivos
Bloque original
Mostrando 1 - 1 de 1
Miniatura
Nombre:
JCLA-33-na.pdf
Tamaño:
349.38 KB
Formato:
Adobe Portable Document Format
Descargar
Bloque de licencias
Mostrando 1 - 1 de 1
No hay miniatura disponible
Nombre:
license.txt
Tamaño:
1.71 KB
Formato:
Item-specific license agreed to upon submission
Descripción:
Descargar
Colecciones
Departamento Biomédico