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APOE Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol
The primary genetic risk factor for late onset Alzheimer’s disease (LOAD) is the APOE4 allele of Apolipoprotein E (APOE) gene. The three most common variants of APOE are determined by single nucleotide polymorphisms (SNPs) rs429358 and rs7412. Our aim was to estimate allele and genotype frequencies...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7822120/ https://www.ncbi.nlm.nih.gov/pubmed/33375167 http://dx.doi.org/10.3390/genes12010004 |
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author | González, Ricardo D. Gomes, Iva Gomes, Catarina Rocha, Rita Durães, Luís Sousa, Patrícia Figueruelo, Manuel Rodríguez, Maria Pita, Carmen Hornero, Roberto Gómez, Carlos Lopes, Alexandra M. Pinto, Nádia Martins, Sandra |
author_facet | González, Ricardo D. Gomes, Iva Gomes, Catarina Rocha, Rita Durães, Luís Sousa, Patrícia Figueruelo, Manuel Rodríguez, Maria Pita, Carmen Hornero, Roberto Gómez, Carlos Lopes, Alexandra M. Pinto, Nádia Martins, Sandra |
author_sort | González, Ricardo D. |
collection | PubMed |
description | The primary genetic risk factor for late onset Alzheimer’s disease (LOAD) is the APOE4 allele of Apolipoprotein E (APOE) gene. The three most common variants of APOE are determined by single nucleotide polymorphisms (SNPs) rs429358 and rs7412. Our aim was to estimate allele and genotype frequencies of APOE variants in an Iberian cohort, thus helping to understand differences in APOE-related LOAD risk observed across populations. We analyzed saliva or buccal swab samples from 229 LOAD patients and 89 healthy elderly controls (≥68 years old) from Northern Portugal and Castile and León region, Spain. The genotyping was performed by Sanger sequencing, optimized to overcome GC content drawbacks. Results obtained in our Iberian LOAD and control cohorts are in line with previous large meta-analyses on APOE frequencies in Caucasian populations; however, we found differences in allele frequencies between our Portuguese and Spanish subgroups of AD patients. Moreover, when comparing studies from Iberian and other Caucasian cohorts, differences in APOE2 and APOE4 frequencies and subsequent different APOE-related LOAD risks must be clarified. These results show the importance of studying genetic variation at the APOE gene in different populations (including analyses at a regional level) to increase our knowledge about its clinical significance. |
format | Online Article Text |
id | pubmed-7822120 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-78221202021-01-23 APOE Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol González, Ricardo D. Gomes, Iva Gomes, Catarina Rocha, Rita Durães, Luís Sousa, Patrícia Figueruelo, Manuel Rodríguez, Maria Pita, Carmen Hornero, Roberto Gómez, Carlos Lopes, Alexandra M. Pinto, Nádia Martins, Sandra Genes (Basel) Article The primary genetic risk factor for late onset Alzheimer’s disease (LOAD) is the APOE4 allele of Apolipoprotein E (APOE) gene. The three most common variants of APOE are determined by single nucleotide polymorphisms (SNPs) rs429358 and rs7412. Our aim was to estimate allele and genotype frequencies of APOE variants in an Iberian cohort, thus helping to understand differences in APOE-related LOAD risk observed across populations. We analyzed saliva or buccal swab samples from 229 LOAD patients and 89 healthy elderly controls (≥68 years old) from Northern Portugal and Castile and León region, Spain. The genotyping was performed by Sanger sequencing, optimized to overcome GC content drawbacks. Results obtained in our Iberian LOAD and control cohorts are in line with previous large meta-analyses on APOE frequencies in Caucasian populations; however, we found differences in allele frequencies between our Portuguese and Spanish subgroups of AD patients. Moreover, when comparing studies from Iberian and other Caucasian cohorts, differences in APOE2 and APOE4 frequencies and subsequent different APOE-related LOAD risks must be clarified. These results show the importance of studying genetic variation at the APOE gene in different populations (including analyses at a regional level) to increase our knowledge about its clinical significance. MDPI 2020-12-22 /pmc/articles/PMC7822120/ /pubmed/33375167 http://dx.doi.org/10.3390/genes12010004 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article González, Ricardo D. Gomes, Iva Gomes, Catarina Rocha, Rita Durães, Luís Sousa, Patrícia Figueruelo, Manuel Rodríguez, Maria Pita, Carmen Hornero, Roberto Gómez, Carlos Lopes, Alexandra M. Pinto, Nádia Martins, Sandra APOE Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol |
title | APOE Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol |
title_full | APOE Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol |
title_fullStr | APOE Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol |
title_full_unstemmed | APOE Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol |
title_short | APOE Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol |
title_sort | apoe variants in an iberian alzheimer cohort detected through an optimized sanger sequencing protocol |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7822120/ https://www.ncbi.nlm.nih.gov/pubmed/33375167 http://dx.doi.org/10.3390/genes12010004 |
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