ArticleBMC medical genomics2011
Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.
Article in BMC medical genomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Bicuspid aortic valve aortopathy: genetics, pathophysiology and medical therapy.Interactive cardiovascular and thoracic surgery · 2013Pooled it
- Applying multi-omics techniques to the discovery of biomarkers for acute aortic dissection.Frontiers in cardiovascular medicine · 2022Review
- A functional variant ofAging · 2018Article
- Genome-wide association studies in Africans and African Americans: expanding the framework of the genomics of human traits and disease.Public health genomics · 2015Review
- Allele-Selective Transcriptome Recruitment to Polysomes Primed for Translation: Protein-Coding and Noncoding RNAs, and RNA Isoforms.PloS one · 2015Article
- Next steps in cardiovascular disease genomic research--sequencing, epigenetics, and transcriptomics.Clinical chemistry · 2012Review
- Whole-exome sequencing and an iPSC-derived cardiomyocyte model provides a powerful platform for gene discovery in left ventricular hypertrophy.Frontiers in genetics · 2012Article
- Characterization of autosomal copy-number variation in African Americans: the HyperGEN Study.European journal of human genetics : EJHG · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundAortic root diameter is a clinically relevant trait due to its known relationship with the pathogenesis of aortic regurgitation and risk for aortic dissection. African Americans are an understudied population despite a particularly high burden of cardiovascular diseases. We report a genome-wide association study on aortic root diameter among African Americans enrolled in the HyperGEN study. We invoked a two-stage, mixed model procedure to jointly identify SNP allele and copy number variation effects.
resultsResults suggest novel genetic contributors along a large region between the CRCP and KCTD7 genes on chromosome 7 (p = 4.26 × 10(-7)); and the SIRPA and PDYN genes on chromosome 20 (p = 3.28 × 10(-8)).
conclusionsThe regions we discovered are candidates for future studies on cardiovascular outcomes, particularly in African Americans. The methods we employed can also provide an outline for genetic researchers interested in jointly testing SNP and CNV effects and/or applying mixed model procedures on a genome-wide scale.
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Registered trials
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.