{"doi":"10.1038/ng.474","title":"Microduplications of 16p11.2 are associated with schizophrenia","abstract":"Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental disorders. We report the association of 16p11.2 microduplications with schizophrenia in two large cohorts. The microduplication was detected in 12/1,906 (0.63%) cases and 1/3,971 (0.03%) controls (P = 1.2 x 10(-5), OR = 25.8) from the initial cohort, and in 9/2,645 (0.34%) cases and 1/2,420 (0.04%) controls (P = 0.022, OR = 8.3) of the replication cohort. The 16p11.2 microduplication was associated with a 14.5-fold increased risk of schizophrenia (95% CI (3.3, 62)) in the combined sample. A meta-analysis of datasets for multiple psychiatric disorders showed a significant association of the microduplication with schizophrenia (P = 4.8 x 10(-7)), bipolar disorder (P = 0.017) and autism (P = 1.9 x 10(-7)). In contrast, the reciprocal microdeletion was associated only with autism and developmental disorders (P = 2.3 x 10(-13)). Head circumference was larger in patients with the microdeletion than in patients with the microduplication (P = 0.0007).","journal":"Nature Genetics","year":2009,"id":3648,"datarank":0.9897763542921775,"base_score":6.598509028614515,"endowment":6.598509028614515,"self_citation_contribution":0.9897763542921775,"citation_network_contribution":0.0,"self_endowment_contribution":0.9897763542921775,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":733,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.043,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2009-10-25","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":5333,"name":"Kenneth S. 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