While many genetic variants have been associated with risk for human diseases, how these variants affect gene expression in various cell types remains largely unknown. To address this gap, the DICE (database of immune cell expression, expression quantitative trait loci [eQTLs], and epigenomics) project was established. Considering all human immune cell types and conditions studied, we identified cis-eQTLs for a total of 12,254 unique genes, which represent 61% of all protein-coding genes expressed in these cell types. Strikingly, a large fraction (41%) of these genes showed a strong cis-association with genotype only in a single cell type. We also found that biological sex is associated with major differences in immune cell gene expression in a highly cell-specific manner. These datasets will help reveal the effects of disease risk-associated genetic polymorphisms on specific immune cell types, providing mechanistic insights into how they might influence pathogenesis (https://dice-database.org).

中文翻译：

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遗传多态性对人类免疫细胞基因表达的影响。

尽管许多遗传变异与人类疾病的风险有关，但这些变异如何影响各种细胞类型中的基因表达仍然未知。为了解决这一差距，建立了DICE（免疫细胞表达数据库，表达定量性状基因座[eQTL]和表观基因组学）项目。考虑到研究的所有人类免疫细胞类型和条件，我们确定了总共12,254个独特基因的cis-eQTL，这些基因占这些细胞类型中表达的所有蛋白质编码基因的61％。令人惊讶的是，这些基因的很大一部分（41％）仅在单个细胞类型中显示出与基因型的强顺式关联。我们还发现，生物性别与高度特定于细胞的免疫细胞基因表达的主要差异有关。