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Genome-wide analysis of DNA methylation in buccal cells: a study of monozygotic twins and mQTLs

Overview of attention for article published in Epigenetics & Chromatin, September 2018
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  • Above-average Attention Score compared to outputs of the same age and source (60th percentile)

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Title
Genome-wide analysis of DNA methylation in buccal cells: a study of monozygotic twins and mQTLs
Published in
Epigenetics & Chromatin, September 2018
DOI 10.1186/s13072-018-0225-x
Pubmed ID
Authors

Jenny van Dongen, Erik A. Ehli, Rick Jansen, Catharina E. M. van Beijsterveldt, Gonneke Willemsen, Jouke J. Hottenga, Noah A. Kallsen, Shanna A. Peyton, Charles E. Breeze, Cornelis Kluft, Bastiaan T. Heijmans, Meike Bartels, Gareth E. Davies, Dorret I. Boomsma

Abstract

DNA methylation arrays are widely used in epigenome-wide association studies and methylation quantitative trait locus (mQTL) studies. Here, we performed the first genome-wide analysis of monozygotic (MZ) twin correlations and mQTLs on data obtained with the Illumina MethylationEPIC BeadChip (EPIC array) and compared the performance of the EPIC array to the Illumina HumanMethylation450 BeadChip (HM450 array) for buccal-derived DNA. Good-quality EPIC data were obtained for 102 buccal-derived DNA samples from 49 MZ twin pairs (mean age = 7.5 years, range = 1-10). Differences between MZ twins in the cellular content of buccal swabs were a major driver for differences in their DNA methylation profiles, highlighting the importance to adjust for cellular composition in DNA methylation studies of buccal-derived DNA. After adjusting for cellular composition, the genome-wide mean correlation (r) between MZ twins was 0.21 for the EPIC array, and cis mQTL analysis in 84 twins identified 1,296,323 significant associations (FDR 5%), encompassing 33,749 methylation sites and 616,029 genetic variants. MZ twin correlations were slightly larger (p < 2.2 × 10-16) for novel EPIC probes (N = 383,066, mean r = 0.22) compared to probes that are also present on HM450 (N = 406,822, mean r = 0.20). In line with this observation, a larger percentage of novel EPIC probes was associated with genetic variants (novel EPIC probes with significant mQTL 4.7%, HM450 probes with mQTL 3.9%, p < 2.2 × 10-16). Methylation sites with a large MZ correlation and sites associated with mQTLs were most strongly enriched in epithelial cell DNase I hypersensitive sites (DHSs), enhancers, and histone mark H3K4me3. We conclude that the contribution of familial factors to individual differences in DNA methylation and the effect of mQTLs are larger for novel EPIC probes, especially those within regulatory elements connected to active regions specific to the investigated tissue.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 63 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 63 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 17%
Student > Ph. D. Student 11 17%
Student > Master 7 11%
Professor 5 8%
Student > Bachelor 3 5%
Other 7 11%
Unknown 19 30%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 14 22%
Agricultural and Biological Sciences 8 13%
Psychology 3 5%
Social Sciences 3 5%
Medicine and Dentistry 2 3%
Other 7 11%
Unknown 26 41%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 30 September 2018.
All research outputs
#6,816,588
of 24,880,704 outputs
Outputs from Epigenetics & Chromatin
#262
of 607 outputs
Outputs of similar age
#113,207
of 346,725 outputs
Outputs of similar age from Epigenetics & Chromatin
#9
of 20 outputs
Altmetric has tracked 24,880,704 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 607 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.7. This one has gotten more attention than average, scoring higher than 56% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 346,725 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 67% of its contemporaries.
We're also able to compare this research output to 20 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 60% of its contemporaries.