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Haplotype analysis of APOE intragenic SNPs

Overview of attention for article published in BMC Neuroscience, April 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (86th percentile)
  • High Attention Score compared to outputs of the same age and source (96th percentile)

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1 news outlet
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Title
Haplotype analysis of APOE intragenic SNPs
Published in
BMC Neuroscience, April 2018
DOI 10.1186/s12868-018-0413-4
Pubmed ID
Authors

Vladimir N. Babenko, Dmitry A. Afonnikov, Elena V. Ignatieva, Anton V. Klimov, Fedor E. Gusev, Evgeny I. Rogaev

Abstract

APOE ε4 allele is most common genetic risk factor for Alzheimer's disease (AD) and cognitive decline. However, it remains poorly understood why only some carriers of APOE ε4 develop AD and how ethnic variabilities in APOE locus contribute to AD risk. Here, to address the role of APOE haplotypes, we reassessed the diversity of APOE locus in major ethnic groups and in Alzheimer's Disease Neuroimaging Initiative (ADNI) dataset on patients with AD, and subjects with mild cognitive impairment (MCI), and control non-demented individuals. 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. The common European ε4-bearing haplotype is associated with AD but not with MCI, and the Africans lack this haplotype. Haplotypic inference revealed alleles that may confer protection against AD. By assessing the DNA methylation profile of the APOE haplotypes, we found that the AD-associated haplotype features elevated APOE CpG content, implying that this locus can also be regulated by genetic-epigenetic interactions. 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 based on population descent of the individuals and on higher specificity of five site haplotypes associated with AD.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 71 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 71 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 13 18%
Student > Ph. D. Student 11 15%
Student > Master 8 11%
Student > Bachelor 7 10%
Student > Doctoral Student 3 4%
Other 10 14%
Unknown 19 27%
Readers by discipline Count As %
Neuroscience 15 21%
Biochemistry, Genetics and Molecular Biology 9 13%
Medicine and Dentistry 7 10%
Agricultural and Biological Sciences 5 7%
Psychology 4 6%
Other 10 14%
Unknown 21 30%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 17. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 31 December 2022.
All research outputs
#1,933,121
of 23,462,326 outputs
Outputs from BMC Neuroscience
#51
of 1,261 outputs
Outputs of similar age
#43,196
of 328,479 outputs
Outputs of similar age from BMC Neuroscience
#1
of 27 outputs
Altmetric has tracked 23,462,326 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,261 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done particularly well, scoring higher than 95% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 328,479 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 86% of its contemporaries.
We're also able to compare this research output to 27 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 96% of its contemporaries.