{"doi":"10.1101/2020.09.27.315622","title":"Genetic variation in <i>CSMD1</i> affects amygdala connectivity and prosocial behavior","abstract":"Abstract The amygdala is one of the most widely connected structures in the primate brain and plays a key role in social and emotional behavior. Here, we present the first genome-wide association study (GWAS) of whole-brain resting-state amygdala networks to discern whether connectivity in these networks could serve as an endophenotype for social behavior. Leveraging published resting-state amygdala networks as a priori endophenotypes in a GWAS meta-analysis of two adolescent cohorts, we identified a common polymorphism on chr.8p23.2 (rs10105357 A/G, MAF (G)=0.35) associated with stronger connectivity in the medial amygdala network (beta=0.20, p =2.97×10 −8 ). This network contains regions that support reward processes and affiliative behavior. People carrying two copies of the minor allele for rs10105357 participate in more prosocial behaviors (t=2.644, p =0.008) and have higher CSMD1 expression in the temporal cortex (t=3.281, p=0.002) than people with one or no copy of the allele. In post-mortem brains across the lifespan, we found that CSMD1 expression is relatively high in the amygdala (2.79 fold higher than white matter, p =1.80×10 −29 ), particularly so for nuclei in the medial amygdala, reaching a maximum in later stages of development. Amygdala network endophenotyping has the potential to accelerate genetic discovery in disorders of social function, such as autism, in which CSMD1 may serve as a diagnostic and therapeutic target.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2020,"id":124059,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9515,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":45525,"name":"Valerio Napolioni","orcid":"0000-0002-4378-6838","position":1,"is_corresponding":false},{"id":569211,"name":"RR Khan","orcid":null,"position":2,"is_corresponding":false},{"id":141828,"name":"Y Kim","orcid":null,"position":3,"is_corresponding":false},{"id":109349,"name":"André Altmann","orcid":"0000-0002-9265-2393","position":4,"is_corresponding":false},{"id":308522,"name":"Jonas Richiardi","orcid":"0000-0002-6975-5634","position":5,"is_corresponding":false},{"id":568255,"name":"Megan Newsom","orcid":"0000-0002-1267-1886","position":6,"is_corresponding":false},{"id":488042,"name":"Sepideh Sadaghiani","orcid":"0000-0001-8800-3959","position":7,"is_corresponding":false},{"id":237618,"name":"Tobias Banaschewski","orcid":"0000-0003-4595-1144","position":8,"is_corresponding":false},{"id":569212,"name":"Alw Bokde","orcid":null,"position":9,"is_corresponding":false},{"id":569213,"name":"EB Quinlan","orcid":null,"position":10,"is_corresponding":false},{"id":109364,"name":"Sylvane Desrivières","orcid":"0000-0002-9120-7060","position":11,"is_corresponding":false},{"id":285454,"name":"Herta Flor","orcid":"0000-0003-4809-5398","position":12,"is_corresponding":false},{"id":285456,"name":"Hugh Garavan","orcid":"0000-0002-8939-1014","position":13,"is_corresponding":false},{"id":285475,"name":"Penny Gowland","orcid":"0000-0002-4900-4817","position":14,"is_corresponding":false},{"id":285467,"name":"Andreas Heinz","orcid":"0000-0001-5405-9065","position":15,"is_corresponding":false},{"id":285478,"name":"Bernd Ittermann","orcid":"0000-0002-4087-471X","position":16,"is_corresponding":false},{"id":569214,"name":"J. 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