Evidence map›Paper›PMID 29395286›Full record

ArticleNeurobiology of aging2018

An APOE-independent cis-eSNP on chromosome 19q13.32 influences tau levels and late-onset Alzheimer's disease risk.

Shuquan Rao, Mahdi Ghani, Zhiyun Guo, Yuetiva Deming, Kesheng Wang, Rebecca Sims, Canquan Mao, Yao Yao, Carlos Cruchaga, Dietrich A Stephan and 1 more

Open access · greenAbstract read
In one paragraph

Article in Neurobiology of aging, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
1.3field-weighted citation impact, top 19% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.

  1. Pooled it
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 7 institutions in 4 countries.

Shuquan RaoSchool of Life Science and Engineering, Southwest Jiaotong University, Chengdu, China. Electronic address: raosq@swjtu.edu.cn.
Mahdi GhaniTanz Centre for Research in Neurodegenerative Diseases, and Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
Zhiyun GuoSchool of Life Science and Engineering, Southwest Jiaotong University, Chengdu, China.
Yuetiva DemingDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.
Kesheng WangDepartment of Biostatistics and Epidemiology, College of Public Health, East Tennessee State University, Johnson City, TN, USA.
Rebecca SimsInstitute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.
Canquan MaoSchool of Life Science and Engineering, Southwest Jiaotong University, Chengdu, China.
Yao YaoDepartment of Fundamental Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Carlos CruchagaDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA; Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO, USA.
Dietrich A StephanDepartment of Human Genetics, Graduate School of Public Health, Pittsburgh, PA, USA.
Ekaterina RogaevaTanz Centre for Research in Neurodegenerative Diseases, and Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
Southwest Jiaotong University · CNUniversity of Toronto · CAWashington University in St. Louis · USCardiff University · GBChengdu University of Traditional Chinese Medicine · CNEast Tennessee State University · USUniversity of Pittsburgh · US

Funding

Gene discovery in PSP by transcriptome, neuropathology and sequence analysisR01NS080820 · NINDS · MAYO CLINIC JACKSONVILLE · PI ERTEKIN-TANER, NILUFER · 2013 to 2017
$1.8M
NINDS NIH HHS R01 NS080820
6 · The paper itself

Abstract

Although multiple susceptibility loci for late-onset Alzheimer's disease (LOAD) have been identified, a large portion of the genetic risk for this disease remains unexplained. LOAD risk may be associated with single-nucleotide polymorphisms responsible for changes in gene expression (eSNPs). To detect eSNPs associated with LOAD, we integrated data from LOAD genome-wide association studies and expression quantitative trait loci using Sherlock (a Bayesian statistical method). We identified a cis-regulatory eSNP (rs2927438) located on chromosome 19q13.32, for which subsequent analyses confirmed the association with both LOAD risk and the expression level of several nearby genes. Importantly, rs2927438 may represent an APOE-independent LOAD eSNP according to the weak linkage disequilibrium of rs2927438 with the 2 polymorphisms (rs7412 and rs429358) defining the APOE-ε2, -ε3, and -ε4 alleles. Furthermore, rs2927438 does not influence chromatin interaction events at the APOE locus or cis-regulation of APOE expression. Further exploratory analysis revealed that rs2927438 is significantly associated with tau levels in the cerebrospinal fluid. Our findings suggest that rs2927438 may confer APOE-independent risk for LOAD.

Indexed as

Genome-Wide Association StudyAllelesAlzheimer DiseaseAmyloid beta-PeptidesApolipoproteins EChromosomes, Human, Pair 19FemaleGene ExpressionGenetic Predisposition to DiseaseHippocampusHumansLinkage DisequilibriumMaleOrgan SizePeptide FragmentsPolymorphism, Single NucleotideAmyloid beta-Peptidesamyloid beta-protein (1-42)Apolipoproteins EPeptide Fragmentstau Proteins19q13.32APOEeQTLLate-onset Alzheimer's diseaseTau level

Identifiers

PMID29395286
PMCPMC7050280
OpenAlexW2782386968

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.