2013
DOI: 10.1101/gr.154187.112
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DNA methylation contributes to natural human variation

Abstract: DNA methylation patterns are important for establishing cell, tissue, and organism phenotypes, but little is known about their contribution to natural human variation. To determine their contribution to variability, we have generated genome-scale DNA methylation profiles of three human populations (Caucasian-American, African-American, and Han Chinese-American) and examined the differentially methylated CpG sites. The distinctly methylated genes identified suggest an influence of DNA methylation on phenotype d… Show more

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Cited by 353 publications
(353 citation statements)
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“…It has been suggested that the stable epigenetic marks represent those determined by genetics, while the variable marks are more likely to be influenced by the environment 64 . A comparison of methylation profiles between populations of different ethnic backgrounds showed that about two-thirds of population-specific CpGs are associated with genetic background 104 , while one-third might be influenced by other factors.…”
Section: Stability and Inter-individual Variation In Dna Methylationmentioning
confidence: 99%
“…It has been suggested that the stable epigenetic marks represent those determined by genetics, while the variable marks are more likely to be influenced by the environment 64 . A comparison of methylation profiles between populations of different ethnic backgrounds showed that about two-thirds of population-specific CpGs are associated with genetic background 104 , while one-third might be influenced by other factors.…”
Section: Stability and Inter-individual Variation In Dna Methylationmentioning
confidence: 99%
“…Studies of methylation differences using Illumina InfiniumHumanMethylation450 BeadChip array data from 133 lymphoblastoid cell lines from European and African HapMap samples found that 13% of analyzed CpGs showed significant methylation differences between the populations, >50% of which were in methQTLs with local SNPs (Moen et al 2013). CpGs showing differential methylation levels across ethnicities are more likely to be driven by genotype than other CpGs (Heyn et al 2013). Nevertheless, these studies also found that some methQTLs are specific to one population with no correlation between genotype and methylation in other populations, suggesting possible gene 3 environment interactions.…”
mentioning
confidence: 99%
“…DNA methylation particularly 5mC (5-methylcytosine) methylation at the CpG sites, the major epigenetic and chemical change in the DNA [41] which without altering the DNA sequence leads to phenotypic variation among the various tissues, monozygotic twins or among humans has provided a new vista to distinguish cell types or tissues [42,43], monozygotic twins [44][45][46], age of humans [47][48][49], human bio-geographic types [44,50] or even can be used to predict certain criminal behaviors [51][52][53]. This 15-dalton mark of methylation in the bases of DNA sequence can help to solve an array of critical cases in forensic biology which when stands gloomy with current polymorphic STR technology.…”
Section: Dna Methylationmentioning
confidence: 99%