Evidence map›Paper›PMID 22503546›Full record

ArticleAtherosclerosis2012

Follow-up association study of linkage regions reveals multiple candidate genes for carotid plaque in Dominicans.

Chuanhui Dong, Ashley Beecham, Liyong Wang, Susan H Blanton, Tatjana Rundek, Ralph L Sacco

Open access · greenAbstract read
In one paragraph

Article in Atherosclerosis, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
1.4field-weighted citation impact, top 17% 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

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Chuanhui DongDepartment of Neurology, Miller School of Medicine, University of Miami, FL, USA.
Ashley Beecham
Liyong Wang
Susan H Blanton
Tatjana Rundek
Ralph L Sacco
University of Miami · 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
NOVEL FACTORS FOR UNEXPLAINED PHENOTYPES OF SUBCLINICAL CAROTID ATHEROSCLEROSISR01NS065114 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BLANTON, SUSAN HALLORAN, RUNDEK, TATJANA · 2010 to 2014
$1.7M
Genetic Determinants of Subclinical Carotid DiseaseR01NS047655 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI RUNDEK, TATJANA · 2004 to 2008
$1.5M
Genetics Determinants of Extreme Phenotypes of Subclinical AtherosclerosisK24NS062737 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI RUNDEK, TATJANA · 2009 to 2013
$975k
NINDS NIH HHS K24 NS 062737NINDS NIH HHS K24 NS062737NINDS NIH HHS R01 NS040807NINDS NIH HHS R01 NS047655NINDS NIH HHS R01 NS065114NINDS NIH HHS R01 NS40807
6 · The paper itself

Abstract

objectiveCarotid plaque is a marker of subclinical atherosclerosis with a genetic component. The aim of this follow-up fine mapping study was to identify candidate genes for carotid plaque within four linkage regions.

methodsWe successfully genotyped 3712 single nucleotide polymorphisms (SNPs) under the four linkage regions that were previously identified in 100 extended Dominican families. Family-based association tests were performed to investigate their associations with carotid plaque. Promising SNPs were evaluated in an independent population-based subcohort (N=941, 384 Dominicans) from the Northern Manhattan Study (NOMAS).

resultsIn the family study, evidence for association (p<0.0005) was found regarding several genes (NAV2, EFCAB11/TDP1, AGBL1, PTPN9, LINGO1 and LOC730118), with the strongest association at rs4143999 near EFCAB11/TDP1 (p=0.00001 for carotid presence and 0.00003 for plaque area, multiple testing corrected p≤0.02). The association in AGBL1 and PTPN9 was mainly driven by the families with linkage evidence (p=0.00008-0.00001 and 0.76-0.32, respectively, in the families with and without linkage evidence). However, these associations explained only a small portion of the observed linkage. In NOMAS, replication (p<0.05 in the whole NOMAS subcohort and p<0.10 in the smaller Dominican subcohort) was found for SNPs within/near EFCAB11, NAV2, AGBL1 and other genes.

conclusionThis follow-up study has identified multiple candidate genes for carotid plaque in the Dominican population. Many of these genes have been implicated in neurodegenerative and cardiovascular diseases. Further studies with in-depth re-sequencing are needed to uncover both rare and common functional variants that contribute to the susceptibility to atherosclerosis.

Indexed as

Genetic LinkageCarotid ArteriesCarotid Artery DiseasesDominican RepublicFollow-Up StudiesGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseHeredityHumansLinear ModelsLinkage DisequilibriumNew York CityPedigreePhenotypePlaque, Atherosclerotic

Identifiers

PMID22503546
PMCPMC3389282
OpenAlexW2068312030

What Socratic holds

Textmetadata
LicenceTDM
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.