期刊
NATURE GENETICS
卷 49, 期 7, 页码 1120-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3885
关键词
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资金
- Takeda pharmaceutical Co., Ltd.
- RIKEN
- Japanese Ministry of Education, Culture, Sports, Sciences and Technology
- Grants-in-Aid for Scientific Research [15H05911, 16K07211, 15H05670, 17K09972, 15H04965, 15H05787] Funding Source: KAKEN
Recent evidence suggests that a substantial portion of complex disease risk alleles modify gene expression in a cell-specific manner1-4. To identify candidate causal genes and biological pathways of immune-related complex diseases, we conducted expression quantitative trait loci (eQTL) analysis on five subsets of immune cells (CD4(+) T cells, CD8(+) T cells, B cells, natural killer (NK) cells and monocytes) and unfractionated peripheral blood from 105 healthy Japanese volunteers. We developed a three-step analytical pipeline comprising (i) prediction of individual gene expression using our eQTL database and public epigenomic data, (ii) gene-level association analysis and (iii) prediction of cell-specific pathway activity by integrating the direction of eQTL effects. By applying this pipeline to rheumatoid arthritis data sets, we identified candidate causal genes and a cytokine pathway (upregulation of tumor necrosis factor (TNF) in CD4(+) T cells). Our approach is an efficient way to characterize the polygenic contributions and potential biological mechanisms of complex diseases.
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