DNA methylation contributes to natural human variation

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 (...

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Published in:	Genome research Vol. 23; no. 9; p. 1363
Main Authors:	Heyn, Holger, Moran, Sebastian, Hernando-Herraez, Irene, Sayols, Sergi, Gomez, Antonio, Sandoval, Juan, Monk, Dave, Hata, Kenichiro, Marques-Bonet, Tomas, Wang, Liewei, Esteller, Manel
Format:	Journal Article
Language:	English
Published:	United States 01.09.2013
Subjects:	Adult African Americans - genetics Asian Americans - genetics DNA Methylation Epigenesis, Genetic European Continental Ancestry Group - genetics Female Genetic Variation Genome, Human Genome-Wide Association Study Humans Male Population - genetics Quantitative Trait Loci
ISSN:	1549-5469, 1549-5469
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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 differences, such as susceptibility to certain diseases and pathogens, and response to drugs and environmental agents. DNA methylation differences can be partially traced back to genetic variation, suggesting that differentially methylated CpG sites serve as evolutionarily established mediators between the genetic code and phenotypic variability. Notably, one-third of the DNA methylation differences were not associated with any genetic variation, suggesting that variation in population-specific sites takes place at the genetic and epigenetic levels, highlighting the contribution of epigenetic modification to natural human variation.
AbstractList	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 differences, such as susceptibility to certain diseases and pathogens, and response to drugs and environmental agents. DNA methylation differences can be partially traced back to genetic variation, suggesting that differentially methylated CpG sites serve as evolutionarily established mediators between the genetic code and phenotypic variability. Notably, one-third of the DNA methylation differences were not associated with any genetic variation, suggesting that variation in population-specific sites takes place at the genetic and epigenetic levels, highlighting the contribution of epigenetic modification to natural human variation. 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 differences, such as susceptibility to certain diseases and pathogens, and response to drugs and environmental agents. DNA methylation differences can be partially traced back to genetic variation, suggesting that differentially methylated CpG sites serve as evolutionarily established mediators between the genetic code and phenotypic variability. Notably, one-third of the DNA methylation differences were not associated with any genetic variation, suggesting that variation in population-specific sites takes place at the genetic and epigenetic levels, highlighting the contribution of epigenetic modification to natural human variation.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 differences, such as susceptibility to certain diseases and pathogens, and response to drugs and environmental agents. DNA methylation differences can be partially traced back to genetic variation, suggesting that differentially methylated CpG sites serve as evolutionarily established mediators between the genetic code and phenotypic variability. Notably, one-third of the DNA methylation differences were not associated with any genetic variation, suggesting that variation in population-specific sites takes place at the genetic and epigenetic levels, highlighting the contribution of epigenetic modification to natural human variation.
Author	Heyn, Holger Hernando-Herraez, Irene Gomez, Antonio Sandoval, Juan Monk, Dave Wang, Liewei Moran, Sebastian Sayols, Sergi Marques-Bonet, Tomas Hata, Kenichiro Esteller, Manel
Author_xml	– sequence: 1 givenname: Holger surname: Heyn fullname: Heyn, Holger organization: Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain – sequence: 2 givenname: Sebastian surname: Moran fullname: Moran, Sebastian – sequence: 3 givenname: Irene surname: Hernando-Herraez fullname: Hernando-Herraez, Irene – sequence: 4 givenname: Sergi surname: Sayols fullname: Sayols, Sergi – sequence: 5 givenname: Antonio surname: Gomez fullname: Gomez, Antonio – sequence: 6 givenname: Juan surname: Sandoval fullname: Sandoval, Juan – sequence: 7 givenname: Dave surname: Monk fullname: Monk, Dave – sequence: 8 givenname: Kenichiro surname: Hata fullname: Hata, Kenichiro – sequence: 9 givenname: Tomas surname: Marques-Bonet fullname: Marques-Bonet, Tomas – sequence: 10 givenname: Liewei surname: Wang fullname: Wang, Liewei – sequence: 11 givenname: Manel surname: Esteller fullname: Esteller, Manel
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/23908385$$D View this record in MEDLINE/PubMed
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Snippet	DNA methylation patterns are important for establishing cell, tissue, and organism phenotypes, but little is known about their contribution to natural human...
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SubjectTerms	Adult African Americans - genetics Asian Americans - genetics DNA Methylation Epigenesis, Genetic European Continental Ancestry Group - genetics Female Genetic Variation Genome, Human Genome-Wide Association Study Humans Male Population - genetics Quantitative Trait Loci
Title	DNA methylation contributes to natural human variation
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