Single Nucleotide Polymorphisms in Apolipoprotein B, Apolipoprotein E, and Methylenetetrahydrofolate Reductase Are Associated With Serum Lipid Levels in Northern Chilean Subjects. A Pilot Study
Characterization of allelic variants is relevant to demonstrate associations among genetic background and susceptibility to develop cardiovascular diseases, which are the main cause of death in Chile. Association of APOB, APOE, and MTHFR polymorphisms with higher lipid levels and the risk of develop...
Main Authors: | , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2021-09-01
|
Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.640956/full |
id |
doaj-d04ce8772fea4c80a5961b4a36772397 |
---|---|
record_format |
Article |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Anita S. Gálvez Hugo Ramírez Pablo Placencia Claudio Rojas Ximena Urzúa Alexis M. Kalergis Alexis M. Kalergis Luis A. Salazar Jorge Escobar-Vera |
spellingShingle |
Anita S. Gálvez Hugo Ramírez Pablo Placencia Claudio Rojas Ximena Urzúa Alexis M. Kalergis Alexis M. Kalergis Luis A. Salazar Jorge Escobar-Vera Single Nucleotide Polymorphisms in Apolipoprotein B, Apolipoprotein E, and Methylenetetrahydrofolate Reductase Are Associated With Serum Lipid Levels in Northern Chilean Subjects. A Pilot Study Frontiers in Genetics Lipid levels genetic variants Apo B Apo E MTHFR polymorphism |
author_facet |
Anita S. Gálvez Hugo Ramírez Pablo Placencia Claudio Rojas Ximena Urzúa Alexis M. Kalergis Alexis M. Kalergis Luis A. Salazar Jorge Escobar-Vera |
author_sort |
Anita S. Gálvez |
title |
Single Nucleotide Polymorphisms in Apolipoprotein B, Apolipoprotein E, and Methylenetetrahydrofolate Reductase Are Associated With Serum Lipid Levels in Northern Chilean Subjects. A Pilot Study |
title_short |
Single Nucleotide Polymorphisms in Apolipoprotein B, Apolipoprotein E, and Methylenetetrahydrofolate Reductase Are Associated With Serum Lipid Levels in Northern Chilean Subjects. A Pilot Study |
title_full |
Single Nucleotide Polymorphisms in Apolipoprotein B, Apolipoprotein E, and Methylenetetrahydrofolate Reductase Are Associated With Serum Lipid Levels in Northern Chilean Subjects. A Pilot Study |
title_fullStr |
Single Nucleotide Polymorphisms in Apolipoprotein B, Apolipoprotein E, and Methylenetetrahydrofolate Reductase Are Associated With Serum Lipid Levels in Northern Chilean Subjects. A Pilot Study |
title_full_unstemmed |
Single Nucleotide Polymorphisms in Apolipoprotein B, Apolipoprotein E, and Methylenetetrahydrofolate Reductase Are Associated With Serum Lipid Levels in Northern Chilean Subjects. A Pilot Study |
title_sort |
single nucleotide polymorphisms in apolipoprotein b, apolipoprotein e, and methylenetetrahydrofolate reductase are associated with serum lipid levels in northern chilean subjects. a pilot study |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Genetics |
issn |
1664-8021 |
publishDate |
2021-09-01 |
description |
Characterization of allelic variants is relevant to demonstrate associations among genetic background and susceptibility to develop cardiovascular diseases, which are the main cause of death in Chile. Association of APOB, APOE, and MTHFR polymorphisms with higher lipid levels and the risk of developing hypertension and cardiovascular diseases have been described. Thus, the aim of this study was to assess genotype distribution and relative allelic frequency of ApoB rs693, ApoE rs7412, ApoE rs429358, MTHFR rs1801131, and MTHFR rs1801133 allelic variants and their effects on lipid profile in young healthy men and women from Northern Chile. A group of 193 healthy subjects were enrolled for this study. Genotyping of rs693 (APOB), rs7412 and rs429358 (APOE), and rs1801131 and rs1801133 (MTHFR) polymorphisms were performed by real time PCR. In addition, lipid profiles were determined and associated to genetic data. The genotype distribution was APOB rs693 (CC = 37%, CT = 41%, and TT = 22%), APOE rs7412/rs429358 (E4 = 0.06, E3 = 0.91, and E2 = 0.03), MTHFR rs1801131 (AA = 57%, AC = 30%, and CC = 13%), and MTHFR rs1801133 (CC = 20%, CT = 47%, and TT = 33%). The association of the genetic variants with plasma lipid levels showed that women, but not men, carrying APOB mutated allele (T) and Apo E4 allele presented lower values of total cholesterol when compared with C/C homozygous genotype or E3 allele, respectively (p < 0.05). In addition, a subgroup analysis revealed that ApoB C/C homozygous women exhibited higher values of HDL-C when compared with men carrying identical genotype (p < 0.01). On the other hand, women carrying E4 allele exhibited lower values of triglycerides when compared with male carrying identical genotype (p < 0.05). Finally, women carrying mutate allele (C) for MTHFR rs1801131 showed lower levels of triglycerides when compared with A/A homozygous genotype (p < 0.05) and lower levels of LDL-C for MTHFR rs1801133 in females carrying (T) allele when compared with males carrying identical genotype (p < 0.05). In summary, the present data showed that APOB, APOE, and MTHFR single nucleotide polymorphisms are associated to lipid levels in a gender-dependent manner among healthy subjects from Northern Chile, especially in women. |
topic |
Lipid levels genetic variants Apo B Apo E MTHFR polymorphism |
url |
https://www.frontiersin.org/articles/10.3389/fgene.2021.640956/full |
work_keys_str_mv |
AT anitasgalvez singlenucleotidepolymorphismsinapolipoproteinbapolipoproteineandmethylenetetrahydrofolatereductaseareassociatedwithserumlipidlevelsinnorthernchileansubjectsapilotstudy AT hugoramirez singlenucleotidepolymorphismsinapolipoproteinbapolipoproteineandmethylenetetrahydrofolatereductaseareassociatedwithserumlipidlevelsinnorthernchileansubjectsapilotstudy AT pabloplacencia singlenucleotidepolymorphismsinapolipoproteinbapolipoproteineandmethylenetetrahydrofolatereductaseareassociatedwithserumlipidlevelsinnorthernchileansubjectsapilotstudy AT claudiorojas singlenucleotidepolymorphismsinapolipoproteinbapolipoproteineandmethylenetetrahydrofolatereductaseareassociatedwithserumlipidlevelsinnorthernchileansubjectsapilotstudy AT ximenaurzua singlenucleotidepolymorphismsinapolipoproteinbapolipoproteineandmethylenetetrahydrofolatereductaseareassociatedwithserumlipidlevelsinnorthernchileansubjectsapilotstudy AT alexismkalergis singlenucleotidepolymorphismsinapolipoproteinbapolipoproteineandmethylenetetrahydrofolatereductaseareassociatedwithserumlipidlevelsinnorthernchileansubjectsapilotstudy AT alexismkalergis singlenucleotidepolymorphismsinapolipoproteinbapolipoproteineandmethylenetetrahydrofolatereductaseareassociatedwithserumlipidlevelsinnorthernchileansubjectsapilotstudy AT luisasalazar singlenucleotidepolymorphismsinapolipoproteinbapolipoproteineandmethylenetetrahydrofolatereductaseareassociatedwithserumlipidlevelsinnorthernchileansubjectsapilotstudy AT jorgeescobarvera singlenucleotidepolymorphismsinapolipoproteinbapolipoproteineandmethylenetetrahydrofolatereductaseareassociatedwithserumlipidlevelsinnorthernchileansubjectsapilotstudy |
_version_ |
1717374892246040576 |
spelling |
doaj-d04ce8772fea4c80a5961b4a367723972021-09-20T06:33:50ZengFrontiers Media S.A.Frontiers in Genetics1664-80212021-09-011210.3389/fgene.2021.640956640956Single Nucleotide Polymorphisms in Apolipoprotein B, Apolipoprotein E, and Methylenetetrahydrofolate Reductase Are Associated With Serum Lipid Levels in Northern Chilean Subjects. A Pilot StudyAnita S. Gálvez0Hugo Ramírez1Pablo Placencia2Claudio Rojas3Ximena Urzúa4Alexis M. Kalergis5Alexis M. Kalergis6Luis A. Salazar7Jorge Escobar-Vera8Laboratorio de Genética, Departamento Biomédico, Facultad de Ciencias de la Salud, Universidad de Antofagasta, Antofagasta, ChileLaboratorio de Genética, Departamento Biomédico, Facultad de Ciencias de la Salud, Universidad de Antofagasta, Antofagasta, ChileLaboratorio de Genética, Departamento Biomédico, Facultad de Ciencias de la Salud, Universidad de Antofagasta, Antofagasta, ChileLaboratorio de Genética, Departamento Biomédico, Facultad de Ciencias de la Salud, Universidad de Antofagasta, Antofagasta, ChileLaboratorio de Genética, Departamento Biomédico, Facultad de Ciencias de la Salud, Universidad de Antofagasta, Antofagasta, ChileDepartamento de Genética Molecular y Microbiología, Facultad de Ciencias Biológicas, Millennium Institute on Immunology and Immunotherapy (MIII), Pontificia Universidad Católica de Chile, Santiago, ChileDepartamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, ChileDepartamento de Ciencias Básicas, Facultad de Medicina, Centro de Biología Molecular & Farmacogenética, Universidad de La Frontera, Temuco, ChileLaboratorio de Genética, Departamento Biomédico, Facultad de Ciencias de la Salud, Universidad de Antofagasta, Antofagasta, ChileCharacterization of allelic variants is relevant to demonstrate associations among genetic background and susceptibility to develop cardiovascular diseases, which are the main cause of death in Chile. Association of APOB, APOE, and MTHFR polymorphisms with higher lipid levels and the risk of developing hypertension and cardiovascular diseases have been described. Thus, the aim of this study was to assess genotype distribution and relative allelic frequency of ApoB rs693, ApoE rs7412, ApoE rs429358, MTHFR rs1801131, and MTHFR rs1801133 allelic variants and their effects on lipid profile in young healthy men and women from Northern Chile. A group of 193 healthy subjects were enrolled for this study. Genotyping of rs693 (APOB), rs7412 and rs429358 (APOE), and rs1801131 and rs1801133 (MTHFR) polymorphisms were performed by real time PCR. In addition, lipid profiles were determined and associated to genetic data. The genotype distribution was APOB rs693 (CC = 37%, CT = 41%, and TT = 22%), APOE rs7412/rs429358 (E4 = 0.06, E3 = 0.91, and E2 = 0.03), MTHFR rs1801131 (AA = 57%, AC = 30%, and CC = 13%), and MTHFR rs1801133 (CC = 20%, CT = 47%, and TT = 33%). The association of the genetic variants with plasma lipid levels showed that women, but not men, carrying APOB mutated allele (T) and Apo E4 allele presented lower values of total cholesterol when compared with C/C homozygous genotype or E3 allele, respectively (p < 0.05). In addition, a subgroup analysis revealed that ApoB C/C homozygous women exhibited higher values of HDL-C when compared with men carrying identical genotype (p < 0.01). On the other hand, women carrying E4 allele exhibited lower values of triglycerides when compared with male carrying identical genotype (p < 0.05). Finally, women carrying mutate allele (C) for MTHFR rs1801131 showed lower levels of triglycerides when compared with A/A homozygous genotype (p < 0.05) and lower levels of LDL-C for MTHFR rs1801133 in females carrying (T) allele when compared with males carrying identical genotype (p < 0.05). In summary, the present data showed that APOB, APOE, and MTHFR single nucleotide polymorphisms are associated to lipid levels in a gender-dependent manner among healthy subjects from Northern Chile, especially in women.https://www.frontiersin.org/articles/10.3389/fgene.2021.640956/fullLipid levelsgenetic variantsApo BApo EMTHFRpolymorphism |