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.

doi:10.1161/01.cir.0000028420.27813.c0

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

Open this paper in CoChat — free account

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.

Integrity signals

Registry

Crossref · 10.1161/01.cir.0000028420.27813.c0

Cites

15 of 15 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

ABCC6 is associated with premature atherosclerosis.
“ABCC6 is associated with transport of molecules across membranes and is associated with premature atherosclerosis (Trip et al., 2002)”
From Population genomics reveal recent speciation and rapid evolutionary adaptation in polar bears (2014) · cites this paper as Trip et al., 2002

Mutations in ABCC6 cause pseudoxanthoma elasticum
Bergen, A. A. B., Plomp, A. S., Schuurman, E. J. M., Terry, S. F., Breuning, M. H., Dauwerse, H. G., Swart, J., Kool, M., Soest, S. V., Baas, F., et al. (2000) · Nature Genetics · doi:10.1038/76109 · Cited by 590
Self-citation
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
Saux, O. L., Urbán, Z., Tschuch, C., Csiszár, K., Bacchelli, B., Quaglino, D., Pasquali‐Ronchetti, I., Pope, F. M., Richards, A. J., Terry, S. F., et al. (2000) · Nature Genetics · doi:10.1038/76102 · Cited by 538
Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
Ringpfeil, F., Lebwohl, M., Christiano, A. M., & Uitto, J. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.100041297 · Cited by 388
MRP6 (ABCC6) Detection in Normal Human Tissues and Tumors
Scheffer, G. L., Hu, X., Pijnenborg, A. C. L. M., Wijnholds, J., Bergen, A. A. B., & Scheper, R. J. (2002) · Laboratory Investigation · doi:10.1038/labinvest.3780444 · Cited by 202
Self-citation
A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum
Saux, O. L., Beck, K., Sachsinger, C., Silvestri, C., Treiber, C., Göring, H. H. H., Johnson, E. W., Paepe, A. D., Pope, F. M., Pasquali‐Ronchetti, I., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/323704 · Cited by 200
Classification of pseudoxanthoma elasticum: Report of a consensus conference
Lebwohl, M., Neldner, K. H., Pope, F. M., Paepe, A. D., Christiano, A. M., Boyd, C. D., Uitto, J., & McKusick, V. A. (1994) · Journal of the American Academy of Dermatology · doi:10.1016/s0190-9622(08)81894-4 · Cited by 178
Elastic tissue abnormalities resembling pseudoxanthoma elasticum in β thalassemia and the sickling syndromes
Aessopos, A., Farmakis, D. T., & Loukopoulos, D. (2002) · Blood · doi:10.1182/blood.v99.1.30 · Cited by 148
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
Struk, B., Cai, L., Zäch, S., Ji, W., Chung, J., Lumsden, A. L., Stümm, M., Huber, M., Schaen, L., Kim, C.-A., et al. (2000) · Journal of Molecular Medicine · doi:10.1007/s001090000114 · Cited by 141
Cardiovascular manifestations of Pseudoxanthoma elasticum.
Mendelsohn, G., Bulkley, B. H., & Hutchins, G. M. (1978) · PubMed · Cited by 115
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum
Pulkkinen, L., Nakano, A., Ringpfeil, F., & Uitto, J. (2001) · Human Genetics · doi:10.1007/s004390100582 · Cited by 83
Molecular genetics of pseudoxanthoma elasticum
Ringpfeil, F., Pulkkinen, L., & Uitto, J. (2001) · Experimental Dermatology · doi:10.1034/j.1600-0625.2001.100401.x · Cited by 82
Workshop on Pseudoxanthoma Elasticum: Molecular Biology and Pathology of the Elastic Fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992
Christiano, A. M., Lebwohl, M., Boyd, C. D., & Uitto, J. (1992) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12668156 · Cited by 60
Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum
Lebwohl, M., Schwartz, E., Lemlich, G., Lovelace, O., Shaikh-Bahai, F., & Fleischmajer, R. (1993) · Archives of Dermatological Research · doi:10.1007/bf01112912 · Cited by 50
Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk
Haußer, I., & Anton‐Lamprecht, I. (1991) · Human Genetics · doi:10.1007/bf00201728 · Cited by 31
VISUAL LOSS ASSOCIATED WITH PSEUDOXANTHOMA ELASTICUM
Yap, E., GLEATON, M. S., & Buettner, H. (1992) · Retina · doi:10.1097/00006982-199212040-00004 · Cited by 17

Flagged first, then by citations

Research works printed but not linked: 3

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

Sorted by citations

The Human ATP-Binding Cassette (ABC) Transporter SuperfamilyPreprint
Dean, M. C., Rzhetsky, A., & Allikmets, R. L. (2001) · Genome Research · doi:10.1101/gr.184901 · Cited by 1,820
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
The Coronary Artery Disease (C4D) Genetics Consortium (2011) · Nature Genetics · doi:10.1038/ng.782 · Cited by 674
Self-citation
Population genomics reveal recent speciation and rapid evolutionary adaptation in polar bears
Liu, S., Lorenzen, E. D., Fumagalli, M., Li, B., Harris, K., Xiong, Z., Zhou, L., Korneliussen, T. S., Somel, M., Babbitt, C., et al. (2014) · Cell · doi:10.1016/j.cell.2014.03.054 · Cited by 411
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., Merrer, M. F. L., Guest, G., Lambot, K., Tazarourte-Pinturier, M.-F., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.020 · Cited by 345
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
Chassaing, N., Martin, L., Calvas, P., Bert, M. L., & Hovnanian, A. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.030171 · Cited by 302
Pseudoxanthoma Elasticum: Genetics, Clinical Manifestations and Therapeutic Approaches
Finger, R. P., Issa, P. C., Ladewig, M. S., Götting, C., Szliska, C., Scholl, H. P. N., & Holz, F. G. (2009) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2008.12.006 · Cited by 211
Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum
Gorgels, T. G. M. F., Hu, X., Scheffer, G. L., van der Wal, A. C., Toonstra, J., de Jong, P. T. V. M., Kuppevelt, T. H. V., Levelt, C. N., de Wolf, A., Loves, W. J. P., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi183 · Cited by 206
Self-citation
Targeted Ablation of the Abcc6 Gene Results in Ectopic Mineralization of Connective Tissues
Klement, J. F., Matsuzaki, Y., Jiang, Q.-J., Terlizzi, J. P., Choi, H. Y., Fujimoto, N., Li, K., Pulkkinen, L., Birk, D. E., Sundberg, J. P., et al. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.18.8299-8310.2005 · Cited by 205
Pseudoxanthoma elasticum
Germain, D. P. (2017) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-017-0639-8 · Cited by 183
Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings
Plomp, A. S., Toonstra, J., Bergen, A. A. B., van Dijk, M. R., & de Jong, P. T. V. M. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33329 · Cited by 178
Self-citation
Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms
Li, Q., Jiang, Q., Pfendner, E. G., Váradi, A., & Uitto, J. (2008) · Experimental Dermatology · doi:10.1111/j.1600-0625.2008.00795.x · Cited by 174
The Genetics of ATP‐Binding Cassette Transporters
Dean, M. C. (2005) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(05)00024-8 · Cited by 178
Pseudoxanthoma Elasticum: Molecular Genetics and Putative Pathomechanisms
Uitto, J., Li, Q., & Jiang, Q. (2009) · Journal of Investigative Dermatology · doi:10.1038/jid.2009.411 · Cited by 147
Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment
Marconi, B., Bobyr, I., Campanati, A., Molinelli, E., Consales, V., Brisigotti, V., Scarpelli, M., Racchini, S., & Offidani, A. (2015) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2015.01014 · Cited by 125
Secretory Phospholipase A2-IIA and Cardiovascular Disease
Holmes, M. V., Simon, T., Exeter, H. J., Folkersen, L., Asselbergs, F. W., Guardiola, M., Cooper, J. A., Palmen, J., Hubacek, J. A., Carruthers, K. F., et al. (2013) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2013.06.044 · Cited by 120
Self-citation
ABC Transport Proteins in Cardiovascular Disease—A Brief Summary
Schumacher, T., & Benndorf, R. A. (2017) · Molecules · doi:10.3390/molecules22040589 · Cited by 115
Impaired Fibrillin-1 Function Promotes Features of Plaque Instability in Apolipoprotein E–Deficient Mice
Herck, J. L., Meyer, G. R. Y. D., Martinet, W., Hove, C. E. V., Foubert, K., Theunis, M., Apers, S., Bult, H., Vrints, C. J., & Herman, A. G. (2009) · Circulation · doi:10.1161/circulationaha.109.872663 · Cited by 105
Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
Stitziel, N. O., Fouchier, S. W., Sjouke, B., Peloso, G. M., Moscoso, A. M., Auer, P. L., Goel, A., Gigante, B., Barnes, T. A., Melander, O., et al. (2013) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.113.302426 · Cited by 108
Self-citation
Pseudoxanthoma elasticum: diagnostic features, classification and treatment options
Uitto, J., Jiang, Q., Váradi, A., Bercovitch, L. G., & Terry, S. F. (2014) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2014.908702 · Cited by 103
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
Vanakker, O. M., Leroy, B. P., Coucke, P. J., Bercovitch, L. G., Uitto, J., Viljoen, D. L., Terry, S. F., Acker, P. V., Matthys, D., Loeys, B., et al. (2007) · Human Mutation · doi:10.1002/humu.9514 · Cited by 98
Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function
Goodall, A. H., Burns, P., Salles, I. I., Macaulay, I. C., Jones, C. I., Ardissino, D., de Bono, B., Bray, S. L., Deckmyn, H., Dudbridge, F., et al. (2010) · Blood · doi:10.1182/blood-2010-04-280925 · Cited by 97
Self-citation
Characterization of Cardiovascular Involvement in Pseudoxanthoma Elasticum Families
Campens, L., Vanakker, O. M., Trachet, B., Segers, P., Leroy, B. P., Zaeytijd, J. D., Voet, D., Paepe, A. D., Backer, T. L. M. D., & Backer, J. F. A. D. (2013) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.113.301901 · Cited by 93
Disorders of Connective Tissue
Burrows, N., & Lovell, C. R. (2004) · Wiley eBooks · doi:10.1002/9780470750520.ch46 · Cited by 91
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum
Li, Q., Brodsky, J. L., Conlin, L. K., Pawel, B., Glatz, A. C., Gafni, R. I., Schurgers, L. J., Uitto, J., Hakonarson, H. H., Deardorff, M. A., et al. (2013) · Journal of Investigative Dermatology · doi:10.1038/jid.2013.370 · Cited by 85
Pseudoxanthoma elasticum, ocular manifestations, complications and treatment
Georgalas, I., Tservakis, I., Papaconstaninou, D., Kardara, M. S., Koutsandrea, C., & Ladas, I. (2010) · Clinical and Experimental Optometry · doi:10.1111/j.1444-0938.2010.00559.x · Cited by 83
Cardiology: the past, the present, and the future
Braunwald, E. (2003) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2003.08.025 · Cited by 74
The molecular and physiological roles of ABCC6: more than meets the eye
Saux, O. L., Martin, L., Aherrahrou, Z., Lefthériotis, G., Váradi, A., & Brampton, C. N. (2012) · Frontiers in Genetics · doi:10.3389/fgene.2012.00289 · Cited by 75
Expression and In Vivo Rescue of Human ABCC6 Disease-Causing Mutants in Mouse Liver
Saux, O. L., Fülöp, K., Yamaguchi, Y., Iliás, A., Szabó, Z., Brampton, C. N., Pomozi, V., Huszár, K., Arányi, T., & Váradi, A. (2011) · PLoS ONE · doi:10.1371/journal.pone.0024738 · Cited by 71
The R1141X Loss-of-Function Mutation of the ABCC6 Gene Is a Strong Genetic Risk Factor for Coronary Artery Disease
Köblös, G., Andrikovics, H., Prohászka, Z., Tordai, A., Váradi, A., & Arányi, T. (2009) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2009.0094 · Cited by 64
ABCC6 and pseudoxanthoma elasticum
Bergen, A. A. B., Plomp, A. S., Hu, X., de Jong, P. T. V. M., & Gorgels, T. G. M. F. (2006) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-005-0039-0 · Cited by 56
Self-citation
Does autosomal dominant pseudoxanthoma elasticum exist?
Plomp, A. S., Hu, X., de Jong, P. T. V. M., & Bergen, A. A. B. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20632 · Cited by 55
Self-citation
Analysis of Pseudoxanthoma Elasticum–Causing Missense Mutants of ABCC6 In Vivo; Pharmacological Correction of the Mislocalized Proteins
Pomozi, V., Brampton, C. N., Fülöp, K., Chen, L.-H., Apana, A., Li, Q., Uitto, J., Saux, O. L., & Váradi, A. (2013) · Journal of Investigative Dermatology · doi:10.1038/jid.2013.482 · Cited by 53
Arterial Remodeling and Stiffness in Patients With Pseudoxanthoma Elasticum
Germain, D. P., Boutouyrie, P., Laloux, B., & Laurent, S. (2003) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.0000067428.19031.28 · Cited by 49
The ERK1/2-Hepatocyte Nuclear Factor 4α Axis Regulates Human ABCC6 Gene Expression in Hepatocytes
de Boussac, H., Ratajewski, M., Sachrajda, I., Köblös, G., Tordai, A., Pułaski, Ł., Buday, L., Váradi, A., & Arányi, T. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.105593 · Cited by 47
Monogenic Vessel Diseases Related to Ischemic Stroke: A Clinical Approach
Ballabio, E., Bersano, A., Bresolin, N., & Candelise, L. (2007) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1038/sj.jcbfm.9600520 · Cited by 46
Heterozygosity for a Single Mutation in the ABCC6 Gene May Closely Mimic PXE
Martin, L., Maïtre, F., Bonicel, P., Daudon, P., Verny, C., Bonneau, D., Saux, O. L., & Chassaing, N. (2008) · Archives of Dermatology · doi:10.1001/archderm.144.3.301 · Cited by 46
Neurologic manifestations of inherited disorders of connective tissue
Debette, S., & Germain, D. P. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-7020-4086-3.00037-0 · Cited by 45
ABCC6 as a Target in Pseudoxanthoma Elasticum
Váradi, A., Szabó, Z., Pomozi, V., de Boussac, H., Fülöp, K., & Arányi, T. (2011) · Current Drug Targets · doi:10.2174/138945011795378612 · Cited by 47
Identification of a DNA Methylation-dependent Activator Sequence in the Pseudoxanthoma Elasticum Gene, ABCC6
Arányi, T., Ratajewski, M., Bardóczy, V., Pułaski, Ł., Bors, A., Tordai, A., & Váradi, A. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m501139200 · Cited by 44
Abcc6 Deficiency Causes Increased Infarct Size and Apoptosis in a Mouse Cardiac Ischemia-Reperfusion Model
Mungrue, I. N., Zhao, P., Yao, Y., Meng, H., Rau, C., Havel, J. V., Gorgels, T. G. M. F., Bergen, A. A. B., MacLellan, W. R., Drake, T. A., et al. (2011) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.111.237420 · Cited by 42
Self-citation
Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
Vilder, E. Y. G. D., Cardoen, S., Hosen, M. J., Saux, O. L., Zaeytijd, J. D., Leroy, B. P., Reuck, J. D., Coucke, P. J., Paepe, A. D., Hemelsoet, D., et al. (2018) · Brain Pathology · doi:10.1111/bpa.12620 · Cited by 42
PXE, a Mysterious Inborn Error Clarified
Borst, P., Váradi, A., & van de Wetering, K. (2018) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2018.10.005 · Cited by 42
Analysis of the Frequent R1141X Mutation in the ABCC6 Gene in Pseudoxanthoma Elasticum
Hu, X., Peek, R., Plomp, A. S., ten Brink, J. B., Scheffer, G. L., Soest, S. V., LEYS, A. M., de Jong, P. T. V. M., & Bergen, A. A. B. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.02-0981 · Cited by 42
Self-citation
Pseudoxanthoma Elasticum: Cardiac Findings in Patients and Abcc6-Deficient Mouse Model
Prunier, F., Terrien, G., Corre, Y. L., Apana, A., Bière, L., Kauffenstein, G., Furber, A., Bergen, A. A. B., Gorgels, T. G. M. F., Saux, O. L., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0068700 · Cited by 39
Self-citation
Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells
Sinkó, E., Iliás, A., Ujhelly, O., Homolya, L., Scheffer, G. L., Bergen, A. A. B., Sarkadi, B., & Váradi, A. (2003) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(03)01349-4 · Cited by 39
Self-citation
Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers
Vanakker, O. M., Voet, D., Petrovic, M., van Robaeys, F., Leroy, B. P., Coucke, P. J., & Paepe, A. D. (2006) · British Journal of Radiology · doi:10.1259/bjr/20801330 · Cited by 38
ABCC6 deficiency promotes dyslipidemia and atherosclerosis
Brampton, C. N., Pomozi, V., Chen, L.-H., Apana, A., McCurdy, S., Zoll, J., Boisvert, W. A., Lambert, G. C., Henrion, D., Blanchard, S., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-82966-y · Cited by 38
Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6 −/− )
Guo, H., Li, Q., Chou, D. W., & Uitto, J. (2013) · Journal of Molecular Medicine · doi:10.1007/s00109-013-1066-5 · Cited by 36
Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders
Li, Q., Arányi, T., Váradi, A., Terry, S. F., & Uitto, J. (2016) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2015.10.065 · Cited by 36
Pseudoxanthoma elasticum
Roach, E. S., & Islam, M. P. (2015) · Handbook of clinical neurology · doi:10.1016/b978-0-444-62702-5.00015-9 · Cited by 36
Pharmacogenomics and cardiovascular drugs: Need for integrated biological system with phenotypes and proteomic markers
Siest, G., Marteau, J., Maumus, S., Berrahmoune, H., Jeannesson, É., Samara, A., Batt, A., & Visvikis‐Siest, S. (2005) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2005.10.011 · Cited by 35
Heterozygosity for R1141X in ABCC6 and Risk of Ischemic Vascular Disease
Hornstrup, L. S., Tybjærg‐Hansen, A., Haase, C. L., Nordestgaard, B. G., Sillesen, H. H., Grande, P., & Frikke‐Schmidt, R. (2011) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.110.958801 · Cited by 33
Disseminated Arterial Calcification and Enhanced Myogenic Response Are Associated With Abcc6 Deficiency in a Mouse Model of Pseudoxanthoma Elasticum
Kauffenstein, G., Pizard, A., Corre, Y. L., Vessières, E., Grimaud, L., Toutain, B., Labat, C., Mauras, Y., Gorgels, T. G. M. F., Bergen, A. A. B., et al. (2014) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.113.302943 · Cited by 32
Self-citation
Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6
Plomp, A. S., Bergen, A. A. B., Florijn, R. J., Terry, S. F., Toonstra, J., van Dijk, M. R., & de Jong, P. T. V. M. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181c00a96 · Cited by 32
Self-citation
The Level of Hepatic ABCC6 Expression Determines the Severity of Calcification after Cardiac Injury
Brampton, C. N., Aherrahrou, Z., Chen, L.-H., Martin, L., Bergen, A. A. B., Gorgels, T. G. M. F., Erdfdi, J., Schunkert, H., Szabó, Z., Váradi, A., et al. (2013) · American Journal Of Pathology · doi:10.1016/j.ajpath.2013.09.015 · Cited by 30
Self-citation
ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: Relevance to pathomechanisms of pseudoxanthoma elasticum
Fülöp, K., Jiang, Q., van de Wetering, K., Pomozi, V., Szabó, P. T., Arányi, T., Sarkadi, B., Borst, P., Uitto, J., & Váradi, A. (2011) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2011.10.095 · Cited by 29
Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum
Hosen, M. J., Nieuwerburgh, F. V., Steyaert, W., Deforce, D. L. D., Martin, L., Lefthériotis, G., Paepe, A. D., Coucke, P. J., & Vanakker, O. M. (2014) · Journal of Investigative Dermatology · doi:10.1038/jid.2014.421 · Cited by 29
Relationships between Plasma Pyrophosphate, Vascular Calcification and Clinical Severity in Patients Affected by Pseudoxanthoma Elasticum
Lefthériotis, G., Navasiolava, N. M., Clotaire, L., Duranton, C., Saux, O. L., Bendahhou, S., Laurain, A., Rubera, I., & Martin, L. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11092588 · Cited by 28
Relationship between the distribution of pseudoxanthoma elasticum skin and mucous membrane lesions and cardiovascular involvement
Utani, A., Tanioka, M., Yamamoto, Y., Taki, R., Araki, E., Tamura, H., & Miyachi, Y. (2010) · The Journal of Dermatology · doi:10.1111/j.1346-8138.2009.00775.x · Cited by 28
Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives
Stumpf, M. J., Schahab, N., Nickenig, G., Skowasch, D., & Schaefer, C. A. (2021) · Biomedicines · doi:10.3390/biomedicines9121895 · Cited by 31
Left Ventricular Systolic and Diastolic Function by Echocardiogram in Pseudoxanthoma Elasticum
Nguyen, L.-D., Terbah, M., Daudon, P., & Martin, L. (2006) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2005.11.091 · Cited by 27
New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers
Hendig, D., Knabbe, C., & Götting, C. (2013) · Frontiers in Genetics · doi:10.3389/fgene.2013.00114 · Cited by 27
Pseudoxanthoma elasticum: genetic diagnostic markers
Pfendner, E. G., Uitto, J., Gerard, G. F., & Terry, S. F. (2008) · Expert Opinion on Medical Diagnostics · doi:10.1517/17530059.2.1.63 · Cited by 26
Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines
Nollet, L., Campens, L., Zaeytijd, J. D., Leroy, B. P., Hemelsoet, D., Coucke, P. J., & Vanakker, O. M. (2021) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2020-107565 · Cited by 25
Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients
Götting, C., Schulz, V., Hendig, D., Grundt, A., Dreier, J., Szliska, C., Brinkmann, T., & Kleesiek, K. (2003) · Laboratory Investigation · doi:10.1038/labinvest.3700004 · Cited by 25
The Inherited Basis of Coronary Artery Disease
Schunkert, H., Natarajan, P., & Samani, N. J. (2026) · New England Journal of Medicine · doi:10.1056/nejmra2405153 · Cited by 23
Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum
Martin, L., Chassaing, N., Delaite, D., Estève, É., Maïtre, F., & Bert, M. L. (2006) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/j.1468-3083.2006.01940.x · Cited by 23
Cardiovascular disease genetics: a long and winding road
Ordovás, J. M. (2003) · Current Opinion in Lipidology · doi:10.1097/00041433-200302000-00009 · Cited by 23
Efficient Molecular Diagnostic Strategy for ABCC6 in Pseudoxanthoma Elasticum
Hu, X., Plomp, A. S., Gorgels, T. G. M. F., ten Brink, J. B., Loves, W. J. P., Mannens, M. M. A. M., de Jong, P. T. V. M., & Bergen, A. A. B. (2004) · Genetic Testing · doi:10.1089/gte.2004.8.292 · Cited by 22
Self-citation
Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype
Gils, M. V., Depauw, J., Coucke, P. J., Aerts, S., Verschuere, S., Nollet, L., & Vanakker, O. M. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12051893 · Cited by 20
Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype
Wegman, J. J., Hu, X., Tan, H. S., Bergen, A. A. B., Trip, M. D., Kastelein, J. J. P., & Smulders, Y. M. (2005) · International Journal of Cardiology · doi:10.1016/j.ijcard.2004.07.012 · Cited by 20
Self-citation
ABCC6 Expression Is Regulated by CCAAT/Enhancer-Binding Protein Activating a Primate-Specific Sequence Located in the First Intron of the Gene
Ratajewski, M., de Boussac, H., Sachrajda, I., Bacquet, C. N., Kovàcs, T., Váradi, A., Pułaski, Ł., & Arányi, T. (2012) · Journal of Investigative Dermatology · doi:10.1038/jid.2012.218 · Cited by 20
Retinal findings in carriers of monoallelic ABCC6 mutations
Gliem, M., Wieg, I., Birtel, J., Müller, P. L., Faust, I., Hendig, D., Holz, F. G., Finger, R. P., & Issa, P. C. (2019) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2018-313448 · Cited by 18
Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice
Ibold, B., Tiemann, J., Faust, I., Ceglarek, U., Dittrich, J., Gorgels, T. G. M. F., Bergen, A. A. B., Vanakker, O. M., Gils, M. V., Knabbe, C., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-81573-1 · Cited by 18
Self-citation
From membrane to mineralization: the curious case of the ABCC6 transporter
Verschuere, S., Gils, M. V., Nollet, L., & Vanakker, O. M. (2020) · FEBS Letters · doi:10.1002/1873-3468.13981 · Cited by 18
Plasma Inorganic Pyrophosphate Deficiency Links Multiparity to Cardiovascular Disease Risk
Veiga‐Lopez, A., Sethuraman, V., Navasiolava, N. M., Makela, B., Olomu, I. N., Long, R., van de Wetering, K., Martin, L., Arányi, T., & Szeri, F. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.573727 · Cited by 18
Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications
Li, Q., Török, L., Kocsis, L., & Uitto, J. (2010) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2010.09856.x · Cited by 18
Relationship between reduced elasticity of extracardiac vessels and left main stem coronary artery disease
Hadjinikolaou, L. K. (2004) · European Heart Journal · doi:10.1016/j.ehj.2004.01.014 · Cited by 18
Identification of a novel deletion in the ABCC6 gene leading to Pseudoxanthoma elasticum
Katona, Ë., Aslanidis, C., Remenyik, É., Csikós, M., Kárpáti, S., Paragh, G., & Schmitz, G. (2005) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2005.07.010 · Cited by 18
Disorders of Connective Tissue
Burrows, N., & Lovell, C. R. (2010) · Wiley eBooks · doi:10.1002/9781444317633.ch45 · Cited by 18
Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors
Pisciotta, L., Tarugi, P., Borrini, C., Bellocchio, A., Fresa, R., Guerra, D., Quaglino, D., Ronchetti, I. P., Calandra, S., & Bertolini, S. (2009) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2009.11.028 · Cited by 16
Clinical practice guidelines for pseudoxanthoma elasticum (2017)
Iwanaga, A., Utani, A., Koike, Y., Okubo, Y., Kuwatsuka, Y., Endo, Y., Tanizaki, H., Wataya‐Kaneda, M., Hatamochi, A., Minaga, K., et al. (2022) · The Journal of Dermatology · doi:10.1111/1346-8138.16301 · Cited by 13
Gene panel for Mendelian strokes
Fang, F., Xu, Z., Suo, Y., Wang, H., Cheng, S., Li, H., Li, W., & Wang, Y. (2020) · Stroke and Vascular Neurology · doi:10.1136/svn-2020-000352 · Cited by 12
The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders
Vilder, E. Y. G. D., Hosen, M. J., & Vanakker, O. M. (2015) · BioMed Research International · doi:10.1155/2015/648569 · Cited by 12
Analyses of key genes involved in Arctic adaptation in polar bears suggest selection on both standing variation and de novo mutations played an important role
Castruita, J. A. S., Westbury, M. V., & Lorenzen, E. D. (2020) · BMC Genomics · doi:10.1186/s12864-020-06940-0 · Cited by 11
The Purinergic Nature of Pseudoxanthoma Elasticum
Kauffenstein, G., Martin, L., & Saux, O. L. (2024) · Biology · doi:10.3390/biology13020074 · Cited by 10
Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum – presymptomatic testing and lack of carrier phenotypes
Akoğlu, G., Li, Q., Özkaya, Ö., Gazyağcı, A. S., & Uitto, J. (2013) · International Journal of Dermatology · doi:10.1111/ijd.12008 · Cited by 10
Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6
Schott, C., Dilliott, A. A., Wang, J., McIntyre, A. D., Son, S., Colaiacovo, S., Baker, C., Gunaratnam, L., House, A. A., Huang, S. S., et al. (2024) · Gene · doi:10.1016/j.gene.2024.148731 · Cited by 9
Mining Potential Functionally Significant Polymorphisms at the ATP-Binding- Cassette Transporter Genes
Wang, Z., Wang, J., Chong, S. S., & Lee, C. G. L. (2009) · Current pharmacogenomics and personalized medicine (Online)/Current pharmacogenomics and personalized medicine · doi:10.2174/187569209787582330 · Cited by 8
Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum
Cattan, D., Bouali, B., Chassaing, N., Martinez, F., Dupont, J., Dodé, C., & Martin, L. (2006) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2006.07187.x · Cited by 8
Analysis of ABC Transporter Gene Expression in Atherosclerosis
Kotlyarov, S. N., & Котлярова, А. А. (2021) · Cardiogenetics · doi:10.3390/cardiogenetics11040021 · Cited by 7
Pseudoxanthoma elasticum and statin prophylaxis
Luft, F. C. (2013) · Journal of Molecular Medicine · doi:10.1007/s00109-013-1082-5 · Cited by 7
Asymptomatic white matter ischemic lesions in a patient with pseudoxanthoma elasticum
Cerrato, P., Giraudo, M., Baima, C., Grasso, M. G., Azzaro, C., Lentini, A., Perozzo, P., Doveil, G. C., & Bergamasco, B. (2005) · Journal of Neurology · doi:10.1007/s00415-005-0757-4 · Cited by 7
The Connective Tissue Diseases and the Cardiovascular System
Roldán, J. F., & Roberts, W. C. (2008) · Cited by 7
Identifying New Loci and Genes Associated with Feed Efficiency in Broilers
Luo, N., Liu, P., Wei, L., Wen, J., Zhao, G., & An, B. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26178492 · Cited by 6
REACT-PXE: a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE)
Martin, L., Spiering, W., Aelbrecht, K., Arányi, T., Duranton, C., Kiss, N., Letavernier, E., Medvecz, M., Pfau, M., Nevalainen, P. I., et al. (2026) · Annales de Dermatologie et de Vénéréologie · doi:10.1016/j.annder.2025.103440 · Cited by 6
Intracoronary ultrasound guided percutaneous coronary angioplasty using a drug eluting stent in a patient with pseudoxanthoma elasticum
Baglini, R., Sesana, M., Capuano, C., & Danzi, G. B. (2005) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2005.01.010 · Cited by 6
Extending the use of GWAS data by combining data from different genetic platforms
van Iperen, E. P. A., Hovingh, G. K., Asselbergs, F. W., & Zwinderman, A. H. (2017) · PLoS ONE · doi:10.1371/journal.pone.0172082 · Cited by 6
Self-citation
Disorders and Mechanisms of Ectopic Calcification
Ziegler, S. G., Gahl, W. A., & Ferreira, C. R. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804182-6.00032-0 · Cited by 5
Maladies héréditaires du collagène et du tissu élastique
Beylot, C., & Martin, L. (2007) · EMC - Dermatologie · doi:10.1016/s0246-0319(07)26414-3 · Cited by 5

Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype
Wegman, J. J., Hu, X., Tan, H. S., Bergen, A. A. B., Trip, M. D., Kastelein, J. J. P., & Smulders, Y. M. (2005) · International Journal of Cardiology · doi:10.1016/j.ijcard.2004.07.012 · Cited by 20
Self-citation
The R1141X Loss-of-Function Mutation of the ABCC6 Gene Is a Strong Genetic Risk Factor for Coronary Artery Disease
Köblös, G., Andrikovics, H., Prohászka, Z., Tordai, A., Váradi, A., & Arányi, T. (2009) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2009.0094 · Cited by 64
Mutation affecting arterial elasticity associated with premature heart disease
Bradbury, J. (2002) · The Lancet · doi:10.1016/s0140-6736(02)09707-6 · Cited by 1
Heterozygosity for R1141X in ABCC6 and Risk of Ischemic Vascular Disease
Hornstrup, L. S., Tybjærg‐Hansen, A., Haase, C. L., Nordestgaard, B. G., Sillesen, H. H., Grande, P., & Frikke‐Schmidt, R. (2011) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.110.958801 · Cited by 33
Analysis of the Frequent R1141X Mutation in the ABCC6 Gene in Pseudoxanthoma Elasticum
Hu, X., Peek, R., Plomp, A. S., ten Brink, J. B., Scheffer, G. L., Soest, S. V., LEYS, A. M., de Jong, P. T. V. M., & Bergen, A. A. B. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.02-0981 · Cited by 42
Self-citation

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: Smulders, Yvo M.
Boer, Jolanda M.A.
Zwinderman, Aeilko H.
Kastelein, John J.P.
Feskens, Edith J.M.
Bergen, Arthur A.B.
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

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

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks