Bell J T, Loomis A K, Butcher L M, Gao F, Zhang B, Hyde C L, Sun J, Wu H, Ward K, Harris J, Scollen S, Davies M N, Schalkwyk L C, Mill J, Williams F M K, Li N, Deloukas P, Beck S, McMahon S B, Wang J, John S L, Spector T D
Nat Commun. 2014;5:2978. doi: 10.1038/ncomms3978.
Chronic pain is a global public health problem, but the underlying molecular mechanisms are not fully understood. Here we examine genome-wide DNA methylation, first in 50 identical twins discordant for heat pain sensitivity and then in 50 further unrelated individuals. Whole-blood DNA methylation was characterized at 5.2 million loci by MeDIP sequencing and assessed longitudinally to identify differentially methylated regions associated with high or low pain sensitivity (pain DMRs). Nine meta-analysis pain DMRs show robust evidence for association (false discovery rate 5%) with the strongest signal in the pain gene TRPA1 (P=1.2 × 10(-13)). Several pain DMRs show longitudinal stability consistent with susceptibility effects, have similar methylation levels in the brain and altered expression in the skin. Our approach identifies epigenetic changes in both novel and established candidate genes that provide molecular insights into pain and may generalize to other complex traits.
慢性疼痛是一个全球性的公共卫生问题,但其潜在的分子机制尚未完全明确。在此,我们首先对50对热痛敏感性不一致的同卵双胞胎进行全基因组DNA甲基化检测,随后又对另外50名无亲属关系的个体进行检测。通过MeDIP测序在520万个位点对全血DNA甲基化进行表征,并进行纵向评估以鉴定与高或低疼痛敏感性相关的差异甲基化区域(疼痛DMR)。九项荟萃分析疼痛DMR显示出与疼痛基因TRPA1中最强信号相关联的有力证据(错误发现率5%)(P = 1.2×10^(-13))。若干疼痛DMR表现出与易感性效应一致的纵向稳定性,在大脑中具有相似的甲基化水平且在皮肤中表达改变。我们的方法识别出了新的和已有的候选基因中的表观遗传变化,这些变化为疼痛提供了分子层面的见解,并且可能适用于其他复杂性状。