Analysis of Sequence Variations in the <i>ABCC6</i> Gene among Patients with Abdominal Aortic Aneurysm and Pseudoxanthoma Elasticum

Vol. 42, No. 5, 2005

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Research Paper

Analysis of Sequence Variations in the ABCC6 Gene among Patients with Abdominal Aortic Aneurysm and Pseudoxanthoma Elasticum
Veronika Schulz^a, Doris Hendig^a, Martin Schillinger^c, Markus Exner^d, Hans Domanovits^e, Marianne Raith^d, Christiane Szliska^b, Knut Kleesiek^a, Christian Götting^a

^aInstitut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, Bad Oeynhausen, und
^bDermatologische Klinik, Krankenhaus Bethesda, Freudenberg, Deutschland;
^cKlinische Abteilung Angiologie, Universitätsklinik für Innere Medizin II,
^dKlinisches Institut für Medizinische und Chemische Labordiagnostik, und
^eUniversitätsklinik für Notfallmedizin, Universität Wien, Wien, Österreich

Address of Corresponding Author

J Vasc Res 2005;42:424-432 (DOI: 10.1159/000087900)

Key Words

ABCC6
Abdominal aortic aneurysm
Gene polymorphism
MRP6
Mutational analysis
Pseudoxanthoma elasticum

Abstract

Abdominal aortic aneurysm (AAA) is characterized by dilatation of arterial walls, which is accompanied by degradation of elastin and collagen molecules. Biochemical and environmental factors are known to be relevant for AAA development, and familial predisposition is well recognized. A connective tissue disorder that is also associated with fragmentation of elastic fibers is Pseudoxanthoma elasticum (PXE). PXE is caused by mutations in the ABCC6 gene and mainly affects dermal, ocular and all vascular tissues. To investigate whether variations in ABCC6 are found in AAA patients and to determine mutations in PXE patients, we analyzed seven selected ABCC6 exons of 133 AAA and 54 PXE patients subjected to mutational analysis. In our cohort of AAA patients, we found five ABCC6 alterations, which result in missense or silent amino acid variants. The allelic frequencies of these sequence variations were not significantly different between AAA patients and healthy controls. Therefore, we suggest that alterations in ABCC6 are not a genetic risk factor for AAA. Mutational screening of the PXE patients revealed 19 different ABCC6 variations, including two novel PXE-causing mutations. These results expand the ABCC6 mutation database in PXE.

Author Contacts

Dr. Christian Götting
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Georgstrasse 11
DE-32545 Bad Oeynhausen (Germany)
Tel. +49 5731 97 2033, Fax +49 5731 97 2013, E-Mail cgoetting@hdz-nrw.de

Article Information

Received: June 9, 2005
Accepted: July 3, 2005
Published online: August 26, 2005
Number of Print Pages : 9
Number of Figures : 1, Number of Tables : 3, Number of References : 46

Medline Abstract (ID 16127278)

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