{"doi":"10.1126/science.1249547","title":"Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes","abstract":"To extend our understanding of the genetic basis of human immune function and dysfunction, we performed an expression quantitative trait locus (eQTL) study of purified CD4(+) T cells and monocytes, representing adaptive and innate immunity, in a multi-ethnic cohort of 461 healthy individuals. Context-specific cis- and trans-eQTLs were identified, and cross-population mapping allowed, in some cases, putative functional assignment of candidate causal regulatory variants for disease-associated loci. We note an over-representation of T cell-specific eQTLs among susceptibility alleles for autoimmune diseases and of monocyte-specific eQTLs among Alzheimer's and Parkinson's disease variants. This polarization implicates specific immune cell types in these diseases and points to the need to identify the cell-autonomous effects of disease susceptibility variants.","journal":"Science","year":2014,"id":3641,"datarank":0.9483847859890928,"base_score":6.322565239927284,"endowment":6.322565239927284,"self_citation_contribution":0.9483847859890928,"citation_network_contribution":0.0,"self_endowment_contribution":0.9483847859890928,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":556,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.0611,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2014-05-02","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":5261,"name":"Sara Mostafavi","orcid":"0000-0003-4698-1177","position":2,"is_corresponding":false},{"id":2802,"name":"Chun Jimmie Ye","orcid":"0000-0001-6560-3783","position":3,"is_corresponding":false},{"id":15884,"name":"Mark N. 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