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Given the strong genetic predisposition of both disorders, we propose a shared genetic component, with certain loci having differential regulatory impacts.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Study Design<\/jats:title>\n                    <jats:p>Genome-Wide single nucleotide polymorphism (SNP) data of European descent from SCZ (N cases\u2005=\u200553 386, N controls\u2005=\u200577 258) and ASD (N cases\u2005=\u200518 381, N controls\u2005=\u200527 969) were analyzed. We used genetic correlation, bivariate causal mixture model, conditional false discovery rate method, colocalization, Transcriptome-Wide Association Study (TWAS), and Phenome-Wide Association Study (PheWAS) to investigate the genetic overlap and gene expression pattern.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Study Results<\/jats:title>\n                    <jats:p>We found a positive genetic correlation between SCZ and ASD (rg\u2005=\u2005.26, SE\u2005=\u20050.01, P\u2005=\u20057.87e\u221214), with 11 genomic loci jointly influencing both conditions (conjFDR &amp;lt;0.05). Functional analysis highlights a significant enrichment of shared genes during early to mid-fetal developmental stages. A notable genetic region on chromosome 17q21.31 (lead SNP rs2696609) showed strong evidence of colocalization (PP.H4.abf\u2005=\u20050.85). This SNP rs2696609 is linked to many imaging-derived brain phenotypes. TWAS indicated opposing gene expression patterns (primarily pseudogenes and long noncoding RNAs [lncRNAs]) for ASD and SCZ in the 17q21.31 region and some genes (LRRC37A4P, LINC02210, and DND1P1) exhibit considerable variation in the cerebellum across the lifespan.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our findings support a shared genetic basis for SCZ and ASD. A common genetic variant, rs2696609, located in the Chr17q21.31 locus, may exert differential risk regulation on SCZ and ASD by altering brain structure. Future studies should focus on the role of pseudogenes, lncRNAs, and cerebellum in synaptic pruning and neurodevelopmental disorders.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/schbul\/sbae044","type":"journal-article","created":{"date-parts":[[2024,3,29]],"date-time":"2024-03-29T03:35:30Z","timestamp":1711683330000},"page":"1382-1395","source":"Crossref","is-referenced-by-count":25,"title":["Shared Genetic Determinants of Schizophrenia and Autism Spectrum Disorder Implicate Opposite Risk Patterns: A Genome-Wide Analysis of Common Variants"],"prefix":"10.1093","volume":"50","author":[{"given":"Yu","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Psychiatry, The Second Affiliated Hospital of Xinxiang Medical University , Xinxiang, Henan ,","place":["China"]},{"name":"Henan Key Lab of Biological Psychiatry, International Joint Research Laboratory for Psychiatry and Neuroscience of Henan, Xinxiang Medical University , Xinxiang, Henan ,","place":["China"]},{"name":"Henan Collaborative Innovation Center of Prevention and Treatment of Mental Disorder, Xinxiang Medical University , Xinxiang , Henan ,","place":["China"]},{"name":"Institute of Mental Health, Peking University Sixth Hospital , Beijing ,","place":["China"]},{"name":"NHC Key Laboratory of Mental Health (Peking University), National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital) , Beijing ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenqiang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, The Second Affiliated Hospital of Xinxiang Medical University , Xinxiang, Henan ,","place":["China"]},{"name":"Henan Key Lab of Biological Psychiatry, International Joint Research Laboratory for Psychiatry and Neuroscience of Henan, Xinxiang Medical University , Xinxiang, Henan ,","place":["China"]},{"name":"Henan Collaborative Innovation Center of Prevention and Treatment of Mental Disorder, Xinxiang Medical University , Xinxiang , Henan ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luxian","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, The Second Affiliated Hospital of Xinxiang Medical University , Xinxiang, Henan ,","place":["China"]},{"name":"Henan Key Lab of Biological Psychiatry, International Joint Research Laboratory for Psychiatry and Neuroscience of Henan, Xinxiang Medical University , Xinxiang, Henan ,","place":["China"]},{"name":"Henan Collaborative Innovation Center of Prevention and Treatment of Mental Disorder, Xinxiang Medical University , Xinxiang , Henan ,","place":["China"]},{"name":"Henan Province People\u2019s Hospital , Zhengzhou , Henan ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weihua","family":"Yue","sequence":"additional","affiliation":[{"name":"Institute of Mental Health, Peking University Sixth Hospital , Beijing ,","place":["China"]},{"name":"NHC Key Laboratory of Mental Health (Peking University), National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital) , Beijing ,","place":["China"]},{"name":"PKU-IDG\/McGovern Institute for Brain Research, Peking University , Beijing ,","place":["China"]},{"name":"Research Unit of Diagnosis and Treatment of Mood Cognitive Disorder (2018RU006), Chinese Academy of Medical Sciences , Beijing ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,4,14]]},"reference":[{"key":"2024110900284319500_CIT0001","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1002\/aur.1977","article-title":"Association between schizophrenia and autism spectrum disorder: a systematic review and meta-analysis","volume":"11","author":"Zheng","year":"2018","journal-title":"Autism 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