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Comparison of methylation patterns generated from genomic and cell-line derived DNA using the Illumina Infinium
L J Smyth1, J Kilner2, A P Maxwell2
1Molecular Epidemiology Research Group, Centre for Public Health, Queen's University of Belfast, Belfast, UK. laura.smyth@qub.ac.uk.
BMC Research Notes
|December 23, 2019
Summary
Cell-line derived DNA (clDNA) shows potential as a substitute for genomic DNA (gDNA) in DNA methylation studies. Analysis using Illumina MethylationEPIC arrays revealed consistent methylation patterns, suggesting clDNA can replace limited gDNA when necessary.
Area of Science:
- Epigenetics
- Genomics
- Molecular Biology
Background:
- Genomic DNA (gDNA) is the preferred source for DNA methylation analysis.
- Cell-line derived DNA (clDNA), generated via Epstein-Barr virus transformation of lymphocytes, is an alternative source.
- Limited availability of gDNA necessitates exploring alternative DNA sources for methylation studies.
Purpose of the Study:
- To compare DNA methylation patterns between gDNA from blood and clDNA from the same individuals.
- To evaluate the feasibility of using clDNA as a substitute for gDNA in methylation analyses.
- To assess the utility of clDNA with Illumina Infinium MethylationEPIC BeadChip arrays.
Main Methods:
- Comparison of methylation patterns in 16 individuals (8 gDNA and 8 matched clDNA samples).
- Utilized Illumina Infinium MethylationEPIC BeadChip arrays to assess 862,927 CpG sites.
- Statistical analysis using Partek Genomics Suite to identify significantly different CpG sites.
Main Results:
- A total of 28,632 CpG sites exhibited significantly different methylation levels (p < 10⁻⁸) between gDNA and clDNA.
- The majority of assessed CpG sites (828,072) showed no significant methylation differences.
- High consistency in methylation patterns was observed between gDNA and clDNA samples.
Conclusions:
- Cell-line derived DNA (clDNA) holds potential as a viable replacement for genomic DNA (gDNA) in DNA methylation studies.
- clDNA can be utilized when gDNA is finite or unavailable, ensuring reliable methylation analysis.
- The findings support the use of clDNA for large-scale methylation studies using high-throughput arrays.

