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Genome-Wide Analysis of DNA Methylation, Copy Number Variation, and Gene Expression in Monozygotic Twins Discordant for Primary Biliary Cirrhosis

Overview of attention for article published in Frontiers in immunology, March 2014
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Title
Genome-Wide Analysis of DNA Methylation, Copy Number Variation, and Gene Expression in Monozygotic Twins Discordant for Primary Biliary Cirrhosis
Published in
Frontiers in immunology, March 2014
DOI 10.3389/fimmu.2014.00128
Pubmed ID
Authors

Carlo Selmi, Francesca Cavaciocchi, Ana Lleo, Cristina Cheroni, Raffaele De Francesco, Simone A. Lombardi, Maria De Santis, Francesca Meda, Maria Gabriella Raimondo, Chiara Crotti, Marco Folci, Luca Zammataro, Marlyn J. Mayo, Nancy Bach, Shinji Shimoda, Stuart C. Gordon, Monica Miozzo, Pietro Invernizzi, Mauro Podda, Rossana Scavelli, Michelle R. Martin, Michael F. Seldin, Janine M. LaSalle, M. Eric Gershwin

Abstract

Primary biliary cirrhosis (PBC) is an uncommon autoimmune disease with a homogeneous clinical phenotype that reflects incomplete disease concordance in monozygotic (MZ) twins. We have taken advantage of a unique collection consisting of genomic DNA and mRNA from peripheral blood cells of female MZ twins (n = 3 sets) and sisters of similar age (n = 8 pairs) discordant for disease. We performed a genome-wide study to investigate differences in (i) DNA methylation (using a custom tiled four-plex array containing tiled 50-mers 19,084 randomly chosen methylation sites), (ii) copy number variation (CNV) (with a chip including markers derived from the 1000 Genomes Project, all three HapMap phases, and recently published studies), and/or (iii) gene expression (by whole-genome expression arrays). Based on the results obtained from these three approaches we utilized quantitative PCR to compare the expression of candidate genes. Importantly, our data support consistent differences in discordant twins and siblings for the (i) methylation profiles of 60 gene regions, (ii) CNV of 10 genes, and (iii) the expression of 2 interferon-dependent genes. Quantitative PCR analysis showed that 17 of these genes are differentially expressed in discordant sibling pairs. In conclusion, we report that MZ twins and sisters discordant for PBC manifest particular epigenetic differences and highlight the value of the epigenetic study of twins.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 74 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 1%
Canada 1 1%
Unknown 72 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 16 22%
Researcher 12 16%
Student > Postgraduate 7 9%
Professor 6 8%
Other 5 7%
Other 14 19%
Unknown 14 19%
Readers by discipline Count As %
Medicine and Dentistry 23 31%
Agricultural and Biological Sciences 15 20%
Biochemistry, Genetics and Molecular Biology 11 15%
Immunology and Microbiology 3 4%
Computer Science 3 4%
Other 2 3%
Unknown 17 23%
Attention Score in Context

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 28 March 2014.
All research outputs
#22,759,802
of 25,374,917 outputs
Outputs from Frontiers in immunology
#27,421
of 31,520 outputs
Outputs of similar age
#207,458
of 238,324 outputs
Outputs of similar age from Frontiers in immunology
#90
of 111 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 31,520 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.4. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 111 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.