NDLI: The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease.

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Year: 2009 Volume: 13

The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Köblös, Gabriella Andrikovics, Hajnalka Prohászka, Zoltán Tordai, Attila Váradi, András Arányi, Tamás
Spatial Coverage	Hungary
Description	Country affiliation: Hungary Author Affiliation: Köblös G ( Institute of Enzymology, Hungarian Academy of Sciences, Budapest, Hungary.)
Abstract	Loss-of-function mutations of ABCC6 cause pseudoxanthoma elasticum (PXE). This Mendelian disorder is characterized by elastic calcification leading to dermal, ocular, and cardiovascular symptoms like coronary artery disease (CAD) and stroke. Although PXE is a recessive disease, microscopic dermal lesions, serum alterations, and higher anecdotal incidence of stroke or CAD among carriers were reported. Here we investigated the association of the c.3421C>T loss-of-function mutation of ABCC6 and CAD and stroke. A previous study demonstrated the association of the c.3421C>T mutation with CAD; however, the frequency found in the control population was unexpectedly high, contradicting, thus, the prevalence of PXE. In the present study, genomic DNA from 749 healthy blood donors was used as control, while 363 and 361 patients suffering from stroke and CAD were investigated, respectively. One carrier was found in our control group, which is in accordance with the reported prevalence of this mutation. No significant association was found between carrier status and stroke in our cohort. In contrast, a significant association of carrier status and CAD was observed (5/361 carriers: p = 0.016, odds ratio [OR] = 10.5). We propose that carriers of ABCC6 loss-of-function mutations benefit from CAD prevention therapy.
File Format	HTM / HTML
ISSN	19450265
e-ISSN	19450257
DOI	10.1089/gtmb.2009.0094
Journal	Genetic Testing and Molecular Biomarkers
Issue Number	1
Volume Number	14
Language	English
Publisher	Mary Ann Liebert
Publisher Date	2010-02-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Discipline Molecular Biology Codon, Nonsense Coronary Artery Disease Genetics Multidrug Resistance-associated Proteins Alleles Case-control Studies Etiology Dna Primers Gene Frequency Genetic Predisposition To Disease Hungary Pseudoxanthoma Elasticum Complications Risk Factors Stroke Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical)

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The R1141X Loss-of-Function Mutation of the ABCC6 Gene Is a Strong Genetic Risk Factor for Coronary Artery Disease

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A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.

Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene.

Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.

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The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease.

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The R1141X Loss-of-Function Mutation of the ABCC6 Gene Is a Strong Genetic Risk Factor for Coronary Artery Disease

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The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease.