Functional significance of some common oxytocin receptor SNPs involved in complex human traits.

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.