{"doi":"10.1016/j.jalz.2006.05.695","title":"P1–317: Apolipoprotein E genotype and variability in age at onset in sib–pairs with familial Alzheimer's disease","abstract":null,"journal":"Alzheimer's & Dementia","year":2006,"id":625704,"datarank":0.10397207708399181,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.0,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1618333,"name":"Sagrario Barquero","orcid":null,"position":1,"is_corresponding":false},{"id":1618334,"name":"Manuel Baron","orcid":null,"position":2,"is_corresponding":false},{"id":1618335,"name":"Raquel Ros","orcid":null,"position":3,"is_corresponding":false},{"id":1618336,"name":"Sagrario Manzano","orcid":null,"position":4,"is_corresponding":false},{"id":1618337,"name":"Maria J. Sainz","orcid":null,"position":5,"is_corresponding":false},{"id":1618338,"name":"Carmen Almaraz","orcid":null,"position":6,"is_corresponding":false},{"id":1618339,"name":"Pilar Gomez-Garre","orcid":null,"position":7,"is_corresponding":false},{"id":1549069,"name":"Adriano Jimenez-Escrig","orcid":null,"position":8,"is_corresponding":false},{"id":1618332,"name":"Estrella Gomez-Tortosa","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"P1–317: Apolipoprotein E genotype and variability in age at onset in sib–pairs with familial Alzheimer's disease","abstract":"The GENODEM project is a research program that collects clinical–genetic information and DNA samples of Spanish kindred with familial AD. In previous analysis we found a wide discrepancy in age at onset within affected siblings (0–20 yrs) that is independent of sex of the affected individuals, is slightly influenced by age, and is significantly lower with maternal transmission of the disease. Herein, we analyze whether ApoE genotype can explain the differences in age at onset of the disease within siblings because of its importance as a modulating gene and its impact in clinical settings. To analyze the influence of Apolipoprotein E epsilon 4 allele (ApoE4) in the variability of age at onset within affected siblings with Alzheimer‘s disease (AD). ApoE genotype was determined in 80 AD cases, including 33 sib–pairs (brothers and sisters) by PCR and restriction analysis using the enzyme Hha I. Age of onset was obtained from caregivers. Differences in age of onset in 33 affected sib–pairs were analyzed in relation to ApoE genotype by one–way ANOVA. 78% of the AD cases were ApoE 4/3 (50%) or 4/4 (28%), while 32% were 3/3. ApoE 4/4 carriers had a younger age at onset (66±5 years, mean ± SD) than 3/4 (69±7) and 3/3 carriers (71±6) but without statistical difference. The distribution of Apo E concordant sib–pairs (n=22) was the following: 3/3 (n=4 sib–pairs, differences in age at onset 7.2±6.4 years), 3/4 (n=11, 4.5±3.0 years), 4/4 (n=7, 6.5±3.4 years). ApoE discordant sib–pairs (n=12) were the following: 3/4 versus 4/4 (n=8 sib–pairs, differences in age at onset 4.2±2.4 years), and 3/3 versus 3/4 (n=4, 5.5±1.9 years). Differences in age at onset in concordant ApoE sib–pairs (5.7±3.9 years) were not significantly different than in discordant sib–pairs (4.6±2.3 years). The presence of an extra ApoE allele in discordant sib–pairs only meant a younger age at onset in half of the pairs. Within sib–pairs with familial AD, ApoE genotype is not a major factor influencing age at onset. Other variables should be considered to influence the great variability in age at onset among affected siblings.","is_dataset_classified":null,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"19767382","pmcid":null,"openalex_id":"https://openalex.org/W2574575879","authors":[],"funders":[],"total_grants":0,"fwci":0.0,"citation_percentile":0.25118466,"influential_citations":0,"citation_trend":[],"oa_status":"bronze","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1016/j.jalz.2006.05.695","host_type":"journal"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1016/j.jalz.2006.05.695","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1552526006030780?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1552526006030780?httpAccept=text/plain","host_type":"publisher"},{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2Fj.jalz.2006.05.695","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1016/j.jalz.2006.05.695","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/full-xml/10.1016/j.jalz.2006.05.695","host_type":"publisher"},{"url":"https://alz-journals.onlinelibrary.wiley.com/doi/pdf/10.1016/j.jalz.2006.05.695","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.jalz.2006.05.695","host_type":"journal"}],"fields_of_study":["Biological Research and Disease Studies","14-3-3 protein interactions","Genetic Associations and Epidemiology"],"mesh_terms":[],"keywords":["Apolipoprotein E","Genotype","Age of onset","Allele","Disease","Analysis of variance","Medicine","Internal medicine","Genetics","Biology","Demography","Gene"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-04T07:34:51.497456Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}