2025年1月22日 · The apolipoprotein E (APOE) gene, located on chromosome 19, remains the primary genetic factor associated with late-onset Alzheimer's disease. 1 In European populations, the ε4 haplotype of APOE, present in approximately 14% of individuals, significantly increases Alzheimer's disease risk, while the less common ε2 haplotype (∼8%) appears to confer a protective effect. 2 Despite its ...

Leveraging a rich population genomics dataset, this study elucidates the distribution of APOE variants and haplotypes that are shared across populations and to specific macroareas, revealing a variety of risk-allele associations that distinguish specific ancestral backgrounds and can be leveraged for specific ancestry-informed screenings in medi...

2018年4月19日 · We performed APOE gene haplotype analysis for a short block of five SNPs across the gene using the ADNI whole genome sequencing dataset. The compilation of ADNI data with 1000 Genomes identified the APOE ε4 linked haplotypes, which appeared to be distant for the Asian, African and European populations.

Apolipoprotein E (Apo-E) is a protein involved in the metabolism of fats in the body of mammals. A subtype is implicated in Alzheimer's disease and cardiovascular diseases. [5] It is encoded in humans by the gene APOE. Apo-E belongs to a family …

Furthermore, a joint haplotype analysis of five SNPs at the PRVL2-TOMM40-APOE-APOC1 gene cluster revealed that three haplotypes were individually associated with extreme lifespan when compared to the most common haplotype.

Sequence analysis of the chimpanzee APOE gene showed that it was most closely related to human ε4-type haplotypes, differing from the human consensus sequence at 67 synonymous (54 substitutions and 13 indels) and 9 nonsynonymous fixed positions.

2018年4月19日 · We showed that SNP frequency profiles within APOE locus are highly skewed to population-specific haplotypes, suggesting that the ancestral background within different sites at APOE gene may shape the disease phenotype. We propose that our results can be utilized for more specific risk assessment bas …

2021年1月4日 · In large discovery and replication samples, we confirm the presence of APOE haplotype-associated methylation differences in APOE, demonstrate that differences in methylation at the APOE locus span a broad genomic locus encompassing several genes and find evidence for altered methylation at sites unlinked to the APOE locus. The observed ...

The gene variants underlying these protein isoforms, known as ε2, ε3, and ε4, are allelic forms of the APOE gene, resulting from different haplotypes at the APOE locus (19q13.31). In particular, they result from three of the four haplotypes expected by the combinations of the alleles of the two single-nucleotide polymorphisms rs429358 and rs7412.

2024年8月21日 · An APOE gene test is a type of genetic test that identifies which variant of the apolipoprotein E (APOE) genotype you have. Having certain APOE genotypes may mean you have an increased risk of Alzheimer’s disease .