ArticleEuropean journal of human genetics : EJHG2012
Copy number variation in patients with cervical artery dissection.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled 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.
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
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Spontaneous cervical artery dissection: is it really a connective tissue disease? A comprehensive review.Frontiers in neurology · 2023Pooled it
- Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.American journal of human genetics · 2024Article
- Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.medRxiv : the preprint server for health sciences · 2024Article
- Genetics of spontaneous cervical and coronary artery dissections.Frontiers in global women's health · 2023Review
- Multiple Arterial Dissections and Connective Tissue Abnormalities.Journal of clinical medicine · 2022Article
- Twin pregnancy with untyped Ehlers-Danlos syndrome requiring prompt genetic testing: A case report.Case reports in women's health · 2022Article
- Arterial dissections: Common features and new perspectives.Frontiers in cardiovascular medicine · 2022Review
- Advances in Genomics Research of Blood Pressure Responses to Dietary Sodium and Potassium Intakes.Hypertension (Dallas, Tex. : 1979) · 2021Review
- Article
- Cervical Artery Dissection and Sports.Frontiers in neurology · 2021Article
- Rare genetic variants in patients with cervical artery dissection.European stroke journal · 2019Article
- Article
- Copy Number Variation and Risk of Stroke.Stroke · 2018Review
- Next generation sequencing analysis of patients with familial cervical artery dissection.European stroke journal · 2017Article
- Genetic Imbalance in Patients with Cervical Artery Dissection.Current genomics · 2017Article
- Copy number variations and stroke.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2016Review
- Copy Number Studies in Noisy Samples.Microarrays (Basel, Switzerland) · 2013Article
- Analysis of a gene co-expression network establishes robust association between Col5a2 and ischemic heart disease.BMC medical genomics · 2013Article
- Commentary on a GWAS: HDAC9 and the risk for ischaemic stroke.BMC medicine · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cervical artery dissection (CeAD) occurs in healthy young individuals and often entails ischemic stroke. Skin biopsies from most CeAD-patients show minor connective tissue alterations. We search for rare genetic deletions and duplication that may predispose to CeAD. Forty-nine non-traumatic CeAD-patients with electron microscopic (EM) alterations of their dermal connective tissue (EM+ patients) and 21 patients with normal connective tissue in skin biopsies (EM- patients) were analyzed. Affymetrix 6.0 microarrays (Affymetrix) from all patients were screened for copy number variants (CNVs). CNVs absent from 403 control subjects and from 2402 published disease-free individuals were considered as CeAD-associated. The genetic content of undentified CNVs was analyzed by means of the Gene Ontology (GO) Term Mapper to detect associations with biological processes. In 49 EM+ patients we identified 13 CeAD-associated CNVs harboring 83 protein-coding genes. In 21 EM- patients we found five CeAD-associated CNVs containing only nine genes (comparison of CNV gene density between the groups: Mann-Whitney P=0.039). Patients' CNVs were enriched for genes involved in extracellular matrix organization (COL5A2, COL3A1, SNTA1, P=0.035), collagen fibril organization COL5A2, COL3A1, (P=0.0001) and possibly for genes involved in transforming growth factor beta (TGF)-beta receptor signaling pathway (COL3A1, DUPS22, P=0.068). We conclude that rare genetic variants may contribute to the pathogenesis of CeAD, in particular in patients with a microscopic connective tissue phenotype.
Indexed as
Identifiers
What OpenQuestion holds
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.