Evidence map›Paper›PMID 29288195›Full record

ArticleG3 (Bethesda, Md.)2018

Sequencing of Linkage Region on Chromosome 12p11 Identifies

Nicole D Dueker, Shengru Guo, Ashley Beecham, Liyong Wang, Susan H Blanton, Marco R Di Tullio, Tatjana Rundek, Ralph L Sacco

Open access · goldAbstract read
In one paragraph

Article in G3 (Bethesda, Md.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 39% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Genetic approaches toward understanding the individual variation in cardiac structure, function and responses to exercise training.The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology · 2021
    Review
  2. Article
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

8 authors at 3 institutions in 1 country.

Nicole D DuekerJohn P. Hussman Institute for Human Genomics, University of Miami, Florida 33136.
Shengru GuoJohn P. Hussman Institute for Human Genomics, University of Miami, Florida 33136.
Ashley BeechamJohn P. Hussman Institute for Human Genomics, University of Miami, Florida 33136.
Liyong WangJohn P. Hussman Institute for Human Genomics, University of Miami, Florida 33136.
Susan H BlantonJohn P. Hussman Institute for Human Genomics, University of Miami, Florida 33136.
Marco R Di TullioDepartment of Medicine, Columbia University, New York, New York 10032.
Tatjana RundekDepartment of Neurology, Miller School of Medicine, University of Miami, Florida 33136.
Ralph L SaccoDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Florida 33136 rsacco@med.miami.edu.
University of Miami · USColumbia University · USDr. John T. Macdonald Foundation · US

Funding

STROKE INCIDENCE AND RISK FACTORS IN A TRI-ETHNIC REGIONR01NS029993 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI ELKIND, MITCHELL S, SACCO, RALPH L. · 1993 to 2019
$19.2M
FAMILY STUDY OF STROKE RISK AND CAROTID ATHEROSCLEROSISR01NS040807 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BLANTON, SUSAN HALLORAN, RUNDEK, TATJANA · 2002 to 2022
$12.2M
NINDS NIH HHS R01 NS029993NINDS NIH HHS R01 NS040807
6 · The paper itself

Abstract

Increased left ventricular mass (LVM) is an intermediate phenotype for cardiovascular disease (CVD) and a predictor of stroke. Using families from the Dominican Republic, we have previously shown LVM to be heritable and found evidence for linkage to chromosome 12p11. Our current study aimed to further characterize the QTL by sequencing the 1 LOD unit down region in 10 families from the Dominican Republic with evidence for linkage to LVM. Within this region, we tested 5477 common variants [CVs; minor allele frequency (MAF) ≥5%] using the Quantitative Transmission-Disequilibrium Test (QTDT). Gene-based analyses were performed to test rare variants (RVs; MAF < 5%) in 181 genes using the family-based sequence kernel association test. A sample of 618 unrelated Dominicans from the Northern Manhattan Study (NOMAS) and 12 Dominican families with Exome Array data were used for replication analyses. The most strongly associated CV with evidence for replication was rs1046116 (Discovery families

Indexed as

AdultChromosomes, Human, Pair 12Dominican RepublicFamily HealthFemaleGene FrequencyGenetic LinkageGenetic Predisposition to DiseaseGenotypeHumansHypertrophy, Left VentricularMaleMiddle AgedPlakophilinsPolymorphism, Single NucleotideSequence Analysis, DNAPKP2 protein, humanPlakophilinsDNA sequencingHispanicsleft ventricleplakophilinrare variants

Identifiers

PMID29288195
PMCPMC5919734
OpenAlexW2779040304

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.