Functional significance of some common oxytocin receptor SNPs involved in complex human traits
Abstract Background Oxytocin function is associated with a range of human traits and is often indexed by common polymorphisms of the receptor gene OXTR. Little is known however about the functional significance of these polymorphisms. Objectives To examine the effects of common polymorphisms of OXTR...
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BMC
2025-01-01
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| Series: | BMC Molecular and Cell Biology |
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| Online Access: | https://doi.org/10.1186/s12860-024-00529-1 |
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| author | Suk Ling Ma Michael Thomas Bowen Mark R. Dadds |
| author_facet | Suk Ling Ma Michael Thomas Bowen Mark R. Dadds |
| author_sort | Suk Ling Ma |
| collection | DOAJ |
| description | Abstract Background Oxytocin function is associated with a range of human traits and is often indexed by common polymorphisms of the receptor gene OXTR. Little is known however about the functional significance of these polymorphisms. Objectives To examine the effects of common polymorphisms of OXTR on transcription expression in human neural cells. Method The impact of four common OXTR SNPs (rs1042778, rs4686302, rs2254298 and rs237887) on OXTR gene expression were tested in human neuroblastoma cell line, SH-SY5Y, a commonly used cell line for neurological disease. SNPs were chosen as having robust evidence for associations with complex human traits after consideration of linkage patterns across OXTR. Results The expression level of GG genotype of rs1042778 was significantly lower than TT genotypes. None of the other SNPs were related to functional transcription. Conclusions OXTR polymorphisms showing robust associations with complex human traits are not reliably associated with changes in transcription of OXTR. Increasing cooperation between behavioral and biological scientists is needed to bridge the gap between human trait and functional biological studies to improve our understanding of oxytocin and other important mammalian neuroendocrine processes. |
| format | Article |
| id | doaj-art-4a127f5cd4524c9dbd5d33cb7bf2d8e7 |
| institution | Kabale University |
| issn | 2661-8850 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Molecular and Cell Biology |
| spelling | doaj-art-4a127f5cd4524c9dbd5d33cb7bf2d8e72025-01-12T12:44:12ZengBMCBMC Molecular and Cell Biology2661-88502025-01-012611710.1186/s12860-024-00529-1Functional significance of some common oxytocin receptor SNPs involved in complex human traitsSuk Ling Ma0Michael Thomas Bowen1Mark R. Dadds2Department of Psychiatry, Faculty of Medicine, The Chinese University of Hong KongFaculty of Science, School of Psychology, University of SydneyFaculty of Science, School of Psychology, University of SydneyAbstract Background Oxytocin function is associated with a range of human traits and is often indexed by common polymorphisms of the receptor gene OXTR. Little is known however about the functional significance of these polymorphisms. Objectives To examine the effects of common polymorphisms of OXTR on transcription expression in human neural cells. Method The impact of four common OXTR SNPs (rs1042778, rs4686302, rs2254298 and rs237887) on OXTR gene expression were tested in human neuroblastoma cell line, SH-SY5Y, a commonly used cell line for neurological disease. SNPs were chosen as having robust evidence for associations with complex human traits after consideration of linkage patterns across OXTR. Results The expression level of GG genotype of rs1042778 was significantly lower than TT genotypes. None of the other SNPs were related to functional transcription. Conclusions OXTR polymorphisms showing robust associations with complex human traits are not reliably associated with changes in transcription of OXTR. Increasing cooperation between behavioral and biological scientists is needed to bridge the gap between human trait and functional biological studies to improve our understanding of oxytocin and other important mammalian neuroendocrine processes.https://doi.org/10.1186/s12860-024-00529-1OxytocinPolymorphismsFunctional significance |
| spellingShingle | Suk Ling Ma Michael Thomas Bowen Mark R. Dadds Functional significance of some common oxytocin receptor SNPs involved in complex human traits BMC Molecular and Cell Biology Oxytocin Polymorphisms Functional significance |
| title | Functional significance of some common oxytocin receptor SNPs involved in complex human traits |
| title_full | Functional significance of some common oxytocin receptor SNPs involved in complex human traits |
| title_fullStr | Functional significance of some common oxytocin receptor SNPs involved in complex human traits |
| title_full_unstemmed | Functional significance of some common oxytocin receptor SNPs involved in complex human traits |
| title_short | Functional significance of some common oxytocin receptor SNPs involved in complex human traits |
| title_sort | functional significance of some common oxytocin receptor snps involved in complex human traits |
| topic | Oxytocin Polymorphisms Functional significance |
| url | https://doi.org/10.1186/s12860-024-00529-1 |
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