Evidence map›Paper›PMID 27936005›Full record

ArticlePloS one2016

Rare Variants in NOD1 Associated with Carotid Bifurcation Intima-Media Thickness in Dominican Republic Families.

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

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.2field-weighted citation impact, top 34% 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

5 citing papers in PubMed, 5 citations in OpenAlex.

  1. Hypermethylation ofJournal of the American Heart Association · 2025
    Article
  2. Microbiota in cerebrovascular disease: A key player and future therapeutic target.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2020
    Review
  3. Article
  4. Article
  5. 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

7 authors at 2 institutions in 1 country.

Nicole D DuekerJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America.
Ashley BeechamJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America.
Liyong WangJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America.
Susan H BlantonJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America.
Shengru GuoJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America.
Tatjana RundekDepartment of Neurology, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.
Ralph L SaccoDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America.
University of Miami · USDr. John T. Macdonald Foundation · US

Funding

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
Genetic Determinants of Subclinical Carotid DiseaseR01NS047655 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI RUNDEK, TATJANA · 2004 to 2008
$1.5M
NINDS NIH HHS R01 NS040807NINDS NIH HHS R01 NS047655
6 · The paper itself

Abstract

Cardiovascular disorders including ischemic stroke (IS) and myocardial infarction (MI) are heritable; however, few replicated loci have been identified. One strategy to identify loci influencing these complex disorders is to study subclinical phenotypes, such as carotid bifurcation intima-media thickness (bIMT). We have previously shown bIMT to be heritable and found evidence for linkage and association with common variants on chromosome 7p for bIMT. In this study, we aimed to characterize contributions of rare variants (RVs) in 7p to bIMT. To achieve this aim, we sequenced the 1 LOD unit down region on 7p in nine extended families from the Dominican Republic (DR) with strong evidence for linkage to bIMT. We then performed the family-based sequence kernel association test (famSKAT) on genes within the 7p region. Analyses were restricted to single nucleotide variants (SNVs) with population based minor allele frequency (MAF) <5%. We first analyzed all exonic RVs and then the subset of only non-synonymous RVs. There were 68 genes in our analyses. Nucleotide-binding oligomerization domain (NOD1) was the most significantly associated gene when analyzing exonic RVs (famSKAT p = 9.2x10-4; number of SNVs = 14). We achieved suggestive replication of NOD1 in an independent sample of twelve extended families from the DR (p = 0.055). Our study provides suggestive statistical evidence for a role of rare variants in NOD1 in bIMT. Studies in mice have shown Nod1 to play a role in heart function and atherosclerosis, providing biologic plausibility for a role in bIMT thus making NOD1 an excellent bIMT candidate.

Indexed as

Carotid Intima-Media ThicknessPolymorphism, Single NucleotideAnimalsCarotid Artery DiseasesChromosomes, Human, Pair 7Dominican RepublicFamily HealthFemaleGene FrequencyGenetic LinkageGenetic Predisposition to DiseaseGenotypeHumansMaleMiceNod1 Signaling Adaptor ProteinNOD1 protein, humanNod1 Signaling Adaptor Protein

Identifiers

PMID27936005
PMCPMC5147882
OpenAlexW2560194208

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 Socratic graph.