Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines. | Bell et al. Genome Biology 2011 12 R10 http 2011 12 1 R10 w Genome Biology RESEARCH Open Access DNA methylation patterns associate with genetie and gene expression variation in HapMap cell lines 1 1 1 1 Jordana T Bell Athma A Pai Joseph K Pickrell Daniel J Gaffney Roger Pique-Regi Jacob F Degner Yoav Gilad1 Jonathan K Pritchard1 2 Abstract Background DNA methylation is an essential epigenetic mechanism involved in gene regulation and disease but little is known about the mechanisms underlying inter-individual variation in methylation profiles. Here we measured methylation levels at 22 290 CpG dinucleotides in lymphoblastoid cell lines from 77 HapMap Yoruba individuals for which genome-wide gene expression and genotype data were also available. Results Association analyses of methylation levels with more than three million common single nucleotide polymorphisms SNPs identified 180 CpG-sites in 173 genes that were associated with nearby SNPs putatively in cis usually within 5 kb at a false discovery rate of 10 . The most intriguing trans signal was obtained for SNP rs10876043 in the disco-interacting protein 2 homolog B gene DIP2B previously postulated to play a role in DNA methylation that had a genome-wide significant association with the first principal component of patterns of methylation however we found only modest signal of trans-acting associations overall. As expected we found significant negative correlations between promoter methylation and gene expression levels measured by RNA-sequencing across genes. Finally there was a significant overlap of SNPs that were associated with both methylation and gene expression levels. Conclusions Our results demonstrate a strong genetic component to inter-individual variation in DNA methylation profiles. Furthermore there was an enrichment of SNPs that affect both methylation and gene expression providing evidence for shared mechanisms in a fraction of genes. Background DNA methylation plays an
