Evidence map›Paper›PMID 21791083›Full record

ArticleBMC medical genetics2011

A follow-up study for left ventricular mass on chromosome 12p11 identifies potential candidate genes.

David Della-Morte, Ashley Beecham, Tatjana Rundek, Liyong Wang, Mark S McClendon, Susan Slifer, Susan H Blanton, Marco R Di Tullio, Ralph L Sacco

Open access · goldAbstract read
In one paragraph

Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 2 pooled it
0.8field-weighted citation impact, top 25% 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

17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Aging reveals a sex-dependent susceptibility of sarcospan-deficient mice to cardiometabolic disease.American journal of physiology. Heart and circulatory physiology · 2024
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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

9 authors at 2 institutions in 1 country.

David Della-MorteDepartment of Neurology, Evelyn F. McKnight Brain Institute, Miller School of Medicine, University of Miami, Miami, FL, USA.
Ashley Beecham
Tatjana Rundek
Liyong Wang
Mark S McClendon
Susan Slifer
Susan H Blanton
Marco R Di Tullio
Ralph L Sacco
University of Miami · USColumbia University · 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
Stroke Incidence and Risk Factors in a Tri-Ethnic RegionR37NS029993 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI ELKIND, MITCHELL S, SACCO, RALPH L. · 2008 to 2014
$12.1M
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 NS047655NINDS NIH HHS R01 NS NS40807NINDS NIH HHS R37 NS29993
6 · The paper itself

Abstract

backgroundLeft ventricular mass (LVM) is an important risk factor for cardiovascular disease. Previously we found evidence for linkage to chromosome 12p11 in Dominican families, with a significant increase in a subset of families with high average waist circumference (WC). In the present study, we use association analysis to further study the genetic effect on LVM.

methodsAssociation analysis with LVM was done in the one LOD critical region of the linkage peak in an independent sample of 897 Caribbean Hispanics. Genotype data were available on 7085 SNPs from 23 to 53 MB on chromosome 12p11. Adjustment was made for vascular risk factors and population substructure using an additive genetic model. Subset analysis by WC was performed to test for a difference in genetic effects between the high and low WC subsets.

resultsIn the overall analysis, the most significant association was found to rs10743465, downstream of the SOX5 gene (p = 1.27E-05). Also, 19 additional SNPs had nominal p < 0.001. In the subset analysis, the most significant difference in genetic effect between those with high and low WC occurred with rs1157480 (p = 1.37E-04 for the difference in β coefficients), located upstream of TMTC1. Twelve additional SNPs in or near 6 genes had p < 0.001.

conclusionsThe current study supports previously identified evidence by linkage for a genetic effect on LVM on chromosome 12p11 using association analysis in population-based Caribbean Hispanic cohort. SOX5 may play an important role in the regulation of LVM. An interaction of TMTC1 with abdominal obesity may contribute to phenotypic variation of LVM.

Indexed as

AgedAged, 80 and overChromosomes, Human, Pair 12Dominican RepublicFemaleFollow-Up StudiesGenetic Association StudiesHeart VentriclesHispanic or LatinoHumansHypertrophy, Left VentricularLod ScoreMaleMiddle AgedModels, GeneticObesity, AbdominalSOX5 protein, humanSOXD Transcription Factors

Identifiers

PMID21791083
PMCPMC3199748
OpenAlexW2026889034

What Socratic holds

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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.