A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia
Schizophrenia is a complex neuropsychiatric disorder closely associated with genetic factors. Copy number variations (CNVs) play a key role in the genetic etiology of schizophrenia, with the distal 1q21.1 microdeletion identified as a rare CNV that serves as a significant genetic risk factor for the...
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Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1612654/full |
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| author | Xinpeng Guo Xinpeng Guo Xinpeng Guo Junrong Guo Junrong Guo Xijing Liu Xijing Liu Ting Hu Ting Hu |
| author_facet | Xinpeng Guo Xinpeng Guo Xinpeng Guo Junrong Guo Junrong Guo Xijing Liu Xijing Liu Ting Hu Ting Hu |
| author_sort | Xinpeng Guo |
| collection | DOAJ |
| description | Schizophrenia is a complex neuropsychiatric disorder closely associated with genetic factors. Copy number variations (CNVs) play a key role in the genetic etiology of schizophrenia, with the distal 1q21.1 microdeletion identified as a rare CNV that serves as a significant genetic risk factor for the disorder. This microdeletion is found in 0.2%–0.6% of individuals with schizophrenia and is associated with an eightfold increased risk of developing the condition. The distal 1q21.1 region contains several schizophrenia risk genes, including PRKAB2, BCL9, CHD1L, GJA5, and GJA8. This review focuses on the roles of these five genes in brain function and explores their potential pathophysiological mechanisms in schizophrenia. By synthesizing current evidence, this review aims to deepen the understanding of schizophrenia by outlining its genetic architecture and molecular mechanisms, thereby providing a comprehensive framework for exploring disease pathogenesis. |
| format | Article |
| id | doaj-art-a2255105b9e74a0cb3d1bf759fbac09e |
| institution | DOAJ |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-a2255105b9e74a0cb3d1bf759fbac09e2025-08-20T02:48:54ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-07-011610.3389/fgene.2025.16126541612654A review on the relationship between the distal 1q21.1 microdeletion and schizophreniaXinpeng Guo0Xinpeng Guo1Xinpeng Guo2Junrong Guo3Junrong Guo4Xijing Liu5Xijing Liu6Ting Hu7Ting Hu8Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaWest China School of Medicine, Sichuan University, Chengdu, Sichuan, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, ChinaSchizophrenia is a complex neuropsychiatric disorder closely associated with genetic factors. Copy number variations (CNVs) play a key role in the genetic etiology of schizophrenia, with the distal 1q21.1 microdeletion identified as a rare CNV that serves as a significant genetic risk factor for the disorder. This microdeletion is found in 0.2%–0.6% of individuals with schizophrenia and is associated with an eightfold increased risk of developing the condition. The distal 1q21.1 region contains several schizophrenia risk genes, including PRKAB2, BCL9, CHD1L, GJA5, and GJA8. This review focuses on the roles of these five genes in brain function and explores their potential pathophysiological mechanisms in schizophrenia. By synthesizing current evidence, this review aims to deepen the understanding of schizophrenia by outlining its genetic architecture and molecular mechanisms, thereby providing a comprehensive framework for exploring disease pathogenesis.https://www.frontiersin.org/articles/10.3389/fgene.2025.1612654/fullschizophreniadistal 1q21.1 microdeletionPRKAB2BCL9CHD1L |
| spellingShingle | Xinpeng Guo Xinpeng Guo Xinpeng Guo Junrong Guo Junrong Guo Xijing Liu Xijing Liu Ting Hu Ting Hu A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia Frontiers in Genetics schizophrenia distal 1q21.1 microdeletion PRKAB2 BCL9 CHD1L |
| title | A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia |
| title_full | A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia |
| title_fullStr | A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia |
| title_full_unstemmed | A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia |
| title_short | A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia |
| title_sort | review on the relationship between the distal 1q21 1 microdeletion and schizophrenia |
| topic | schizophrenia distal 1q21.1 microdeletion PRKAB2 BCL9 CHD1L |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2025.1612654/full |
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