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Cited by 142Dermatological and Skeletal DisordersParathyroid Disorders and TreatmentsGenomics and Rare Diseases

The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.

Frequent Mutation in the ABCC6 Gene (R1141X) Is Associated With a Strong Increase in the Prevalence of Coronary Artery Disease

Trip, Mieke D., Smulders, Yvo M., Wegman, Jurgen J., Hu, Xiaofeng, Boer, Jolanda M.A., ten Brink, Jacoline B., Zwinderman, Aeilko H., Kastelein, John J.P., Feskens, Edith J.M., Bergen, Arthur A.B.·2002·Circulation
DOI 10.1161/01.cir.0000028420.27813.c0
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Abstract

BACKGROUND: Pseudoxanthoma elasticum (PXE) is an inborn disorder of the connective tissue with specific skin, ocular, and cardiovascular disease (CVD) manifestations. Recently, we and others have identified mutations in the gene coding for the ABCC6 transporter in PXE patients with ocular and skin involvement. In the Netherlands, as in the rest of Europe, a particular premature truncation variant ABCC6 (R1141X) was found in a large cohort of PXE patients. Given the association between CVD and PXE, we hypothesized that heterozygosity of this ABCC6 mutation could also confer an increased risk for CVD. METHODS AND RESULTS: To assess the relationship between the frequent R1141X mutation in the ABCC6 gene and the prevalence of premature coronary artery disease (CAD), we conducted a case-control study of 441 patients under the age of 50 years who had definite CAD and 1057 age- and sex-matched population-based controls who were free of coronary disease. Strikingly, the prevalence of the R1141X mutation was 4.2 times higher among patients than among controls (3.2% versus 0.8%; P<0.001). Consequently, among subjects with the R1141X mutation, the odds ratio for a coronary event was 4.23 (95% CI: 1.76 to 10.20, P= 0.001). CONCLUSION: The presence of the R1141X mutation in the ABCC6 gene is associated with a sharply increased risk of premature CAD.

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Crossref · 10.1161/01.cir.0000028420.27813.c0

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Citations

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Research works printed but not linked: 3

  1. 1978, Arch Pathol Lab Med, 102, 298
  2. 1991, Hum Genet, 87, 693
  3. 1993, Neth J Cardiol, 6, 205

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Metadata

Authors
Trip, M. D., Smulders, Y. M., Wegman, J. J., Hu, X., Boer, J. M. A., ten Brink, J. B., Zwinderman, A. H., Kastelein, J. J. P., Feskens, E. J. M., & Bergen, A. A. B.
Affiliations
  • National Institute for Public Health and the Environment (NL)
  • From the Departments of Cardiology (M.D.T.), Clinical Epidemiology and Biostatistics (A.H.Z.), and Vascular Medicine (Y.MS, J.J.W., J.J.P.K.), Clinical Genetics (A.A.B.B.), Academic Medical Centre, University of Amsterdam, Amsterdam; Department of Chronic Diseases Epidemiology, National Institute of Public Health and the Environment (J.B., E.J.M.F.), Bilthoven; and The Netherlands Ophthalmic Research Institute (J.B.t.B., X.H., A.A.B.B.), Amsterdam, the Netherlands.
ORCID
Venue
Circulation
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2002-08-13
Volume
106
Issue
7
Pages
773-775
ISSN
  • 0009-7322 (ISSN-L)
  • 1524-4539
DOI
10.1161/01.cir.0000028420.27813.c0
OpenAlex
W2037718729
Cited by
142
References
15
Citations by year
2026: 6 · 2025: 4 · 2024: 5 · 2023: 2 · 2022: 4 · 2021: 6 · 2020: 7 · 2019: 2 · 2018: 3 · 2017: 5 · 2016: 1 · 2015: 5 · 2014: 7 · 2013: 14 · 2012: 4
FWCI
4.61
Type
journal article
Language
en
Open access
closed
Locations
  • Circulation (publishedVersion)
  • PubMed (publishedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • Pure Amsterdam UMC (submittedVersion)
  • Rivm Repository (Netherlands National Institute for Public Health and the Environment) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
  • Health Sciences › Medicine › Nephrology › Parathyroid Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
ABCC6 gene, pseudoxanthoma elasticum, coronary artery disease, premature coronary artery disease, cardiovascular risk, heterozygosity, genetic susceptibility
MeSH terms
Adult, Coronary Artery Disease, Female, Genetic Testing, Heterozygote, Humans, Male, Middle Aged, Mutation, Netherlands, Pseudoxanthoma Elasticum, Risk Factors, Prevalence, Odds Ratio, Case-Control Studies, Risk Assessment, Multidrug Resistance-Associated Proteins, ATP-Binding Cassette, Sub-Family C Proteins

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