Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
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
_version_ 1783639563501043712
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
work_keys_str_mv AT gonzalezricardod apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT gomesiva apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT gomescatarina apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT rocharita apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT duraesluis apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT sousapatricia apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT figueruelomanuel apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT rodriguezmaria apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT pitacarmen apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT horneroroberto apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT gomezcarlos apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT lopesalexandram apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT pintonadia apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol
AT martinssandra apoevariantsinaniberianalzheimercohortdetectedthroughanoptimizedsangersequencingprotocol