<i>APOE</i> 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 <i>APOE4</i> allele of <i>Apolipoprotein E</i> (<i>APOE</i>) gene. The three most common variants of <i>APOE</i> are determined by single nucleotide polymorphisms (SNPs) r...
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MDPI AG
2020-12-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/1/4 |
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| author | Ricardo D. González Iva Gomes Catarina Gomes Rita Rocha Luís Durães Patrícia Sousa Manuel Figueruelo Maria Rodríguez Carmen Pita Roberto Hornero Carlos Gómez Alexandra M. Lopes Nádia Pinto Sandra Martins |
| author_facet | Ricardo D. González Iva Gomes Catarina Gomes Rita Rocha Luís Durães Patrícia Sousa Manuel Figueruelo Maria Rodríguez Carmen Pita Roberto Hornero Carlos Gómez Alexandra M. Lopes Nádia Pinto Sandra Martins |
| author_sort | Ricardo D. González |
| collection | DOAJ |
| description | The primary genetic risk factor for late onset Alzheimer’s disease (LOAD) is the <i>APOE4</i> allele of <i>Apolipoprotein E</i> (<i>APOE</i>) gene. The three most common variants of <i>APOE</i> are determined by single nucleotide polymorphisms (SNPs) rs429358 and rs7412. Our aim was to estimate allele and genotype frequencies of <i>APOE</i> variants in an Iberian cohort, thus helping to understand differences in <i>APOE</i>-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 <i>APOE</i> 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 <i>APOE2</i> and <i>APOE4</i> frequencies and subsequent different <i>APOE</i>-related LOAD risks must be clarified. These results show the importance of studying genetic variation at the <i>APOE</i> gene in different populations (including analyses at a regional level) to increase our knowledge about its clinical significance. |
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| last_indexed | 2024-03-10T13:51:26Z |
| publishDate | 2020-12-01 |
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| series | Genes |
| spelling | doaj.art-4b296948b40e47a496b296a953e8627d2023-11-21T02:06:29ZengMDPI AGGenes2073-44252020-12-01121410.3390/genes12010004<i>APOE</i> Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing ProtocolRicardo D. González0Iva Gomes1Catarina Gomes2Rita Rocha3Luís Durães4Patrícia Sousa5Manuel Figueruelo6Maria Rodríguez7Carmen Pita8Roberto Hornero9Carlos Gómez10Alexandra M. Lopes11Nádia Pinto12Sandra Martins13IPATIMUP–Institute of Molecular Pathology and Immunology of the University of Porto, 4200-135 Porto, PortugalIPATIMUP–Institute of Molecular Pathology and Immunology of the University of Porto, 4200-135 Porto, PortugalIPATIMUP–Institute of Molecular Pathology and Immunology of the University of Porto, 4200-135 Porto, PortugalIPATIMUP–Institute of Molecular Pathology and Immunology of the University of Porto, 4200-135 Porto, PortugalAssociação Portuguesa de Familiares e Amigos de Doentes de Alzheimer, 4455-301 Lavra, PortugalAssociação Portuguesa de Familiares e Amigos de Doentes de Alzheimer, 4455-301 Lavra, PortugalAsociación de Familiares y Amigos de Enfermos de Alzheimer y Otras Demencias de Zamora, 49021 Zamora, SpainAsociación de Familiares y Amigos de Enfermos de Alzheimer y Otras Demencias de Zamora, 49021 Zamora, SpainAsociación de Familiares y Amigos de Enfermos de Alzheimer y Otras Demencias de Zamora, 49021 Zamora, SpainGrupo de Ingeniería Biomédica, Universidad de Valladolid, 47011 Valladolid, SpainGrupo de Ingeniería Biomédica, Universidad de Valladolid, 47011 Valladolid, SpainIPATIMUP–Institute of Molecular Pathology and Immunology of the University of Porto, 4200-135 Porto, PortugalIPATIMUP–Institute of Molecular Pathology and Immunology of the University of Porto, 4200-135 Porto, PortugalIPATIMUP–Institute of Molecular Pathology and Immunology of the University of Porto, 4200-135 Porto, PortugalThe primary genetic risk factor for late onset Alzheimer’s disease (LOAD) is the <i>APOE4</i> allele of <i>Apolipoprotein E</i> (<i>APOE</i>) gene. The three most common variants of <i>APOE</i> are determined by single nucleotide polymorphisms (SNPs) rs429358 and rs7412. Our aim was to estimate allele and genotype frequencies of <i>APOE</i> variants in an Iberian cohort, thus helping to understand differences in <i>APOE</i>-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 <i>APOE</i> 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 <i>APOE2</i> and <i>APOE4</i> frequencies and subsequent different <i>APOE</i>-related LOAD risks must be clarified. These results show the importance of studying genetic variation at the <i>APOE</i> gene in different populations (including analyses at a regional level) to increase our knowledge about its clinical significance.https://www.mdpi.com/2073-4425/12/1/4late onset Alzheimer’s disease (LOAD)<i>Apolipoprotein E</i> (<i>APOE</i>)rs429358rs7412sanger sequencingdisease risk |
| spellingShingle | Ricardo D. González Iva Gomes Catarina Gomes Rita Rocha Luís Durães Patrícia Sousa Manuel Figueruelo Maria Rodríguez Carmen Pita Roberto Hornero Carlos Gómez Alexandra M. Lopes Nádia Pinto Sandra Martins <i>APOE</i> Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol Genes late onset Alzheimer’s disease (LOAD) <i>Apolipoprotein E</i> (<i>APOE</i>) rs429358 rs7412 sanger sequencing disease risk |
| title | <i>APOE</i> Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol |
| title_full | <i>APOE</i> Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol |
| title_fullStr | <i>APOE</i> Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol |
| title_full_unstemmed | <i>APOE</i> Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol |
| title_short | <i>APOE</i> Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol |
| title_sort | i apoe i variants in an iberian alzheimer cohort detected through an optimized sanger sequencing protocol |
| topic | late onset Alzheimer’s disease (LOAD) <i>Apolipoprotein E</i> (<i>APOE</i>) rs429358 rs7412 sanger sequencing disease risk |
| url | https://www.mdpi.com/2073-4425/12/1/4 |
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