Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Nat Genet. 2013 Feb;45(2):124-30. doi: 10.1038/ng.2504. Epub 2012 Dec 23.
If trait-associated variants alter regulatory regions, then they should fall within chromatin marks in relevant cell types. However, it is unclear which of the many marks are most useful in defining cell types associated with disease and fine mapping variants. We hypothesized that informative marks are phenotypically cell type specific; that is, SNPs associated with the same trait likely overlap marks in the same cell type. We examined 15 chromatin marks and found that those highlighting active gene regulation were phenotypically cell type specific. Trimethylation of histone H3 at lysine 4 (H3K4me3) was the most phenotypically cell type specific (P < 1 × 10(-6)), driven by colocalization of variants and marks rather than gene proximity (P < 0.001). H3K4me3 peaks overlapped with 37 SNPs for plasma low-density lipoprotein concentration in the liver (P < 7 × 10(-5)), 31 SNPs for rheumatoid arthritis within CD4(+) regulatory T cells (P = 1 × 10(-4)), 67 SNPs for type 2 diabetes in pancreatic islet cells (P = 0.003) and the liver (P = 0.003), and 14 SNPs for neuropsychiatric disease in neuronal tissues (P = 0.007). We show how cell type-specific H3K4me3 peaks can inform the fine mapping of associated SNPs to identify causal variation.
如果特征相关的变异改变了调控区域,那么它们应该位于相关细胞类型的染色质标记内。然而,目前还不清楚在众多标记中,哪些标记最有助于定义与疾病相关的细胞类型和精细定位变异。我们假设,有信息价值的标记在表型上是细胞类型特异性的;也就是说,与同一特征相关的 SNP 很可能与同一细胞类型中的标记重叠。我们研究了 15 种染色质标记,发现那些强调活跃基因调控的标记在表型上是细胞类型特异性的。组蛋白 H3 赖氨酸 4 三甲基化(H3K4me3)是最具表型细胞类型特异性的(P < 1×10(-6)),这是由变体和标记的共定位驱动的,而不是基因的临近性(P < 0.001)。H3K4me3 峰与肝脏中血浆低密度脂蛋白浓度的 37 个 SNP(P < 7×10(-5))、CD4(+)调节性 T 细胞中类风湿关节炎的 31 个 SNP(P = 1×10(-4))、胰岛细胞中 2 型糖尿病的 67 个 SNP(P = 0.003)和肝脏中的 67 个 SNP(P = 0.003)以及神经元组织中神经精神疾病的 14 个 SNP 重叠(P = 0.007)。我们展示了如何利用细胞类型特异性 H3K4me3 峰来精细定位相关 SNP,以识别因果变异。