Ma Suk Ling, Bowen Michael Thomas, Dadds Mark R
Department of Psychiatry, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.
Faculty of Science, School of Psychology, University of Sydney, Sydney, NSW, Australia.
BMC Mol Cell Biol. 2025 Jan 6;26(1):3. doi: 10.1186/s12860-024-00529-1.
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.
To examine the effects of common polymorphisms of OXTR on transcription expression in human neural cells.
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.
The expression level of GG genotype of rs1042778 was significantly lower than TT genotypes. None of the other SNPs were related to functional transcription.
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.
催产素功能与一系列人类特征相关，且常通过受体基因OXTR的常见多态性来衡量。然而，关于这些多态性的功能意义，我们知之甚少。
研究OXTR常见多态性对人类神经细胞转录表达的影响。
在人神经母细胞瘤细胞系SH-SY5Y（一种常用于神经疾病研究的细胞系）中，检测了四个常见的OXTR单核苷酸多态性（rs1042778、rs4686302、rs2254298和rs237887）对OXTR基因表达的影响。在考虑了OXTR的连锁模式后，选择这些单核苷酸多态性是因为它们有确凿证据表明与复杂人类特征相关。
rs1042778的GG基因型表达水平显著低于TT基因型。其他单核苷酸多态性均与功能性转录无关。
与复杂人类特征有确凿关联的OXTR多态性与OXTR转录变化并无可靠关联。行为科学家和生物科学家需要加强合作，以弥合人类特征研究与功能性生物学研究之间的差距，从而增进我们对催产素及其他重要哺乳动物神经内分泌过程的理解。
