ArticleCirculation. Cardiovascular genetics2009
COL4A1 is associated with arterial stiffness by genome-wide association scan.
Article in Circulation. Cardiovascular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 3 of them syntheses 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
44 citing papers in PubMed, 3 syntheses or guidelines pooled it, 102 citations in OpenAlex.
- Novel Genetic Locus Influencing Retinal Venular Tortuosity Is Also Associated With Risk of Coronary Artery Disease.Arteriosclerosis, thrombosis, and vascular biology · 2019Pooled it
- Common genetic variation in the 3'-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the AortaGen Consortium.Circulation. Cardiovascular genetics · 2012Pooled it
- Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.Circulation · 2011Pooled it
- Glycocalyx and basal lamina in neurological disorders.Matrix biology : journal of the International Society for Matrix Biology · 2026Review
- Collagen IV in Gould syndrome and Alport syndrome.Nature reviews. Nephrology · 2025Review
- Review
- Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant.The American journal of case reports · 2023Article
- Genetic and biomarker modulation of arterial stiffness change in the SardiNIA population cohort.Frontiers in epidemiology · 2023Article
- Age and vascular aging: an unexplored frontier.Frontiers in cardiovascular medicine · 2023Review
- Collagen type IV as the link between arterial stiffness and dementia.American journal of translational research · 2023Review
- Elevated TGFβ signaling contributes to cerebral small vessel disease in mouse models of Gould syndrome.Matrix biology : journal of the International Society for Matrix Biology · 2023Article
- A healthy mind in a healthy body: Effects of arteriosclerosis and other risk factors on cognitive aging and dementia.The psychology of learning and motivation · 2022Article
- Biological Pathways in Adolescent Aortic Stiffness.Journal of the American Heart Association · 2021Article
- Material-driven fibronectin assembly rescues matrix defects due to mutations in collagen IV in fibroblasts.Biomaterials · 2020Article
- Article
- Association of COL4A2 Gene Polymorphisms with Lacunar Stroke in Xinjiang Han Populations.Journal of molecular neuroscience : MN · 2019Article
- Revealing the pathogenic changes of PAH based on multiomics characteristics.Journal of translational medicine · 2019Article
- Genome-wide association study identifies loci for arterial stiffness index in 127,121 UK Biobank participants.Scientific reports · 2019Article
- Characteristics of healthy vascular ageing in pooled population-based cohort studies: the global Metabolic syndrome and Artery REsearch Consortium.Journal of hypertension · 2018Article
- Association of COL4A1 (rs605143, rs565470) and CD14 (rs2569190) genes polymorphism with coronary artery disease.Molecular and cellular biochemistry · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundPulse wave velocity (PWV), a noninvasive index of central arterial stiffness, is a potent predictor of cardiovascular mortality and morbidity. Heritability and linkage studies have pointed toward a genetic component affecting PWV. We conducted a genome-wide association study to identify single-nucleotide polymorphisms (SNPs) associated with PWV. METHODS AND
resultsThe study cohort included participants from the SardiNIA study for whom PWV measures were available. Genotyping was performed in 4221 individuals, using either the Affymetrix 500K or the Affymetrix 10K mapping array sets (with imputation of the missing genotypes). Associations with PWV were evaluated using an additive genetic model that included age, age(2), and sex as covariates. The findings were tested for replication in an independent internal Sardinian cohort of 1828 individuals, using a custom chip designed to include the top 43 nonredundant SNPs associated with PWV. Of the loci that were tested for association with PWV, the nonsynonymous SNP rs3742207 in the COL4A1 gene on chromosome 13 and SNP rs1495448 in the MAGI1 gene on chromosome 3 were successfully replicated (P=7.08 x 10(-7) and P=1.06 x 10(-5), respectively, for the combined analyses). The association between rs3742207 and PWV was also successfully replicated (P=0.02) in an independent population, the Old-Order Amish, leading to an overall P=5.16 x 10(-8).
conclusionsA genome-wide association study identified a SNP in the COL4A1 gene that was significantly associated with PWV in 2 populations. Collagen type 4 is the major structural component of basement membranes, suggesting that previously unrecognized cell-matrix interactions may exert an important role in regulating arterial stiffness.
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.