{"doi":"10.1038/s41588-018-0047-6","title":"Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases","abstract":"Clinical measurements can be viewed as useful intermediate phenotypes to promote understanding of complex human diseases. To acquire comprehensive insights into the underlying genetics, here we conducted a genome-wide association study (GWAS) of 58 quantitative traits in 162,255 Japanese individuals. Overall, we identified 1,407 trait-associated loci (P < 5.0 × 10<sup>-8</sup>), 679 of which were novel. By incorporating 32 additional GWAS results for complex diseases and traits in Japanese individuals, we further highlighted pleiotropy, genetic correlations, and cell-type specificity across quantitative traits and diseases, which substantially expands the current understanding of the associated genetics and biology. This study identified both shared polygenic effects and cell-type specificity, represented by the genetic links among clinical measurements, complex diseases, and relevant cell types. Our findings demonstrate that even without prior biological knowledge of cross-phenotype relationships, genetics corresponding to clinical measurements successfully recapture those measurements' relevance to diseases, and thus can contribute to the elucidation of unknown etiology and pathogenesis.","journal":"Nature Genetics","year":2018,"id":6213,"datarank":1.0206921780093938,"base_score":6.804614520062624,"endowment":6.804614520062624,"self_citation_contribution":1.0206921780093938,"citation_network_contribution":0.0,"self_endowment_contribution":1.0206921780093938,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":901,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.2532,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2018-02-05","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":58191,"name":"Masato Akiyama","orcid":"0000-0002-1879-5476","position":1,"is_corresponding":false},{"id":54636,"name":"Atsushi Takahashi","orcid":"0000-0001-7099-8767","position":2,"is_corresponding":false},{"id":14661,"name":"Nana Matoba","orcid":"0000-0001-5329-0134","position":3,"is_corresponding":false},{"id":58192,"name":"Yukihide Momozawa","orcid":"0000-0001-5638-3504","position":4,"is_corresponding":false},{"id":58193,"name":"Masashi Ikeda","orcid":"0000-0001-6237-2449","position":5,"is_corresponding":false},{"id":62469,"name":"Assen Jablensky","orcid":"0000-0003-0602-6810","position":6,"is_corresponding":false},{"id":34093,"name":"Shiro Ikegawa","orcid":"0000-0003-0316-2147","position":7,"is_corresponding":false},{"id":58195,"name":"Makoto Hirata","orcid":"0000-0002-9994-9958","position":8,"is_corresponding":false},{"id":17616,"name":"Koichi Matsuda","orcid":"0000-0001-7292-2686","position":9,"is_corresponding":false},{"id":54659,"name":"Michiaki Kubo","orcid":"0000-0002-0095-2322","position":10,"is_corresponding":false},{"id":11271,"name":"Karen L. Mohlke","orcid":"0000-0001-6721-153X","position":11,"is_corresponding":false},{"id":14692,"name":"Yoichiro Kamatani","orcid":"0000-0001-8748-5597","position":12,"is_corresponding":false},{"id":3032,"name":"Masahiro Kanai","orcid":"0000-0001-5165-4408","position":0,"is_corresponding":true}],"reference_count":57,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-03-01T18:20:47.508186Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}