OBPIIa 基因 rs2590498 多态性与健康受试者嗅觉表现的关联。
Association between the rs2590498 polymorphism of Odorant Binding Protein (OBPIIa) gene and olfactory performance in healthy subjects.
机构信息
Department of Biomedical Sciences, Sect. of Physiology, University of Cagliari, Italy.
Department of Biomedical Sciences, Sect. of Physiology, University of Cagliari, Italy.
出版信息
Behav Brain Res. 2019 Oct 17;372:112030. doi: 10.1016/j.bbr.2019.112030. Epub 2019 Jun 10.
Olfactory function varies by several orders of magnitude among healthy individuals, who may exhibit a reduced sensitivity (hyposmia), a high sensitivity (hyperosmia), or an olfactory blindness (anosmia). Environmental and genetic factors seem to account for this variability. Most of odorant molecules are hydrophobic and it has been suggested that odorants are transported to the olfactory receptors by means of odorant binding proteins (OBPs). Aim of this study was to evaluate the presence of a relationship between the olfactory performance of healthy subjects and the polymorphism in the odor binding-protein (OBPIIa) gene, the only OBP found in the olfactory epithelium of humans. Using the "Sniffin' Sticks" Extended Test we assessed the olfactory performance in 69 subjects, who were genotyped for the rs2590498 polymorphism of the OBPIIa gene, whose major allele A has been associated with a higher retronasal perception as compared to the minor allele G. We found that subjects homozygous for the A-allele exhibited threshold scores higher than subjects homozous for the G-allele or heterozygous. In addition, subjects classified as normosmic and hyposmic differed on the basis of genotype distribution and allelic frequencies. In fact, a normosmic condition was associated with genotype AA and allele A and a hyposmic condition was associated with genotype GG and allele G. In conclusion, our results show that a relationship exists between the physiological variations of olfactory performance and the OBPIIa gene polymorphism.
嗅觉功能在健康个体之间存在着几个数量级的差异,他们可能表现出敏感性降低(嗅觉减退)、敏感性增高(嗅觉过度)或嗅觉丧失(嗅觉缺失)。环境和遗传因素似乎解释了这种可变性。大多数气味分子是疏水性的,有人提出,气味通过气味结合蛋白(OBP)被转运到嗅觉受体。本研究的目的是评估健康受试者的嗅觉表现与嗅觉结合蛋白(OBPIIa)基因多态性之间是否存在关系,OBPIIa 基因是人类嗅上皮中唯一发现的 OBP。我们使用“Sniffin' Sticks”扩展测试评估了 69 名受试者的嗅觉表现,这些受试者的 OBPIIa 基因 rs2590498 多态性进行了基因分型,该基因的主要等位基因 A 与比次要等位基因 G 更高的鼻后感知相关。我们发现,与 AA 基因型的个体相比,AA 基因型的个体的阈值评分更高,而 GG 基因型的个体或杂合子的阈值评分较低。此外,根据基因型分布和等位基因频率,正常嗅觉和嗅觉减退的受试者存在差异。事实上,正常嗅觉状态与 AA 基因型和 A 等位基因相关,而嗅觉减退状态与 GG 基因型和 G 等位基因相关。总之,我们的结果表明,嗅觉表现的生理变化与 OBPIIa 基因多态性之间存在关系。