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Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases

Overview of attention for article published in BMC Genetics, February 2015
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Title
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases
Published in
BMC Genetics, February 2015
DOI 10.1186/s12863-015-0177-0
Pubmed ID
Authors

Anna Maciąg, Francesco Villa, Anna Ferrario, Chiara Carmela Spinelli, Albino Carrizzo, Alberto Malovini, Annalaura Torella, Chiara Montenero, Attilio Parisi, Gianluigi Condorelli, Carmine Vecchione, Vincenzo Nigro, Annibale Sandro Montenero, Annibale Alessandro Puca

Abstract

Lone atrial flutter (AFL) and atrial fibrillation (AF) are common and sometimes consequential cardiac conduction disorders with a strong heritability, as underlined by recent genome-wide association studies that identified genetic modifiers. Follow-up family-based genetic analysis also identified Mendelian transmission of disease alleles. Three affected members were exome-sequenced for the identification of potential causative mutations, which were subsequently validated by direct sequencing in the other 3 affected members. Taqman assay was then used to confirm the role of any mutation in an independent population of sporadic lone AFL/AF cases. The family cluster analysis provided evidence of genetic inheritance of AFL in the family via autosomal dominant transmission. The exome-sequencing of 3 family members identified 7 potential mutations: of these, rs58238559, a rare missense genetic variant in the ATP-binding cassette sub-family B, member 4 (ABCB4) gene was carried by all affected members. Further analysis of 82 subjects with sporadic lone AF, 63 subjects with sporadic lone AFL, and 673 controls revealed that the allele frequency for this variation was significantly higher in cases than in the controls (0.05 vs. 0.01; OR = 3.73; 95% CI = 1.16-11.49; P = 0.013). rs58238559 in ABCB4 is a rare missense variant with a significant effect on the development of AFL/AF.

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Mendeley readers

The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 21%
Professor 3 16%
Student > Bachelor 3 16%
Professor > Associate Professor 2 11%
Lecturer > Senior Lecturer 1 5%
Other 3 16%
Unknown 3 16%
Readers by discipline Count As %
Medicine and Dentistry 9 47%
Agricultural and Biological Sciences 2 11%
Neuroscience 2 11%
Biochemistry, Genetics and Molecular Biology 2 11%
Nursing and Health Professions 1 5%
Other 0 0%
Unknown 3 16%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 April 2015.
All research outputs
#14,583,510
of 16,533,785 outputs
Outputs from BMC Genetics
#842
of 1,036 outputs
Outputs of similar age
#193,989
of 236,770 outputs
Outputs of similar age from BMC Genetics
#1
of 1 outputs
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