Impact of genetic polymorphisms on human immune cell gene expression
| Autor: | Graham McVicker, Gökmen Altay, Brendan Ha, Bjoern Peters, Jose Zapardiel-Gonzalo, Mitchell Kronenberg, Grégory Seumois, Jason A. Greenbaum, Anjana Rao, Benjamin J Schmiedel, Divya Singh, Brandie White, Alan G. Valdovino-Gonzalez, Pandurangan Vijayanand, Ariel Madrigal |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Adult Male Cell type Adolescent Genotype Quantitative Trait Loci Immunology Genome-wide association study Biology Polymorphism Single Nucleotide General Biochemistry Genetics and Molecular Biology Article 03 medical and health sciences Immune system Gene expression Humans Immunology and Allergy Gene Epigenomics Genetics Sex Characteristics Gene Expression Profiling Middle Aged 030104 developmental biology Gene Expression Regulation Expression quantitative trait loci Female Genome-Wide Association Study |
| Zdroj: | The Journal of Immunology. 202:182.27-182.27 |
| ISSN: | 1550-6606 0022-1767 |
| DOI: | 10.4049/jimmunol.202.supp.182.27 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
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