Department of Biomedical Sciences, University of Cagliari, Monserrato, Italy.
Department of Otorhinolaryngology, Smell and Taste Clinic, Dresden University of Technology, Dresden, Germany.
Laryngoscope. 2019 Sep;129(9):E307-E312. doi: 10.1002/lary.27828. Epub 2019 Jan 23.
OBJECTIVES/HYPOTHESIS: Taste sensitivity varies greatly among individuals influencing eating behavior and health, consequently the disorders of this sense can affect the quality of life. The ability to perceive the bitter of thiourea compounds, such as phenylthiocarbamide (PTC), has been largely reported as a marker of the general taste sensitivity, food preferences, and health. PTC sensitivity is mediated by the TAS2R38 receptor and its genetic common variants. We study the role of the TAS2R38 receptor in taste disorders with the aim of understanding if these can be genetically determined.
Prospective cohort study.
Differences in the PTC responsiveness between the patients cohort and healthy controls were assessed. All subjects received standardized tests for smell and taste function and were genotyped for the TAS2R38 gene.
PAV/PAV homozygous patients gave high PTC ratings, whereas PAV/AVI genotypes reported lower values, which are similar to those determined in AVI/AVI or rare genotypes. In addition, the patients cohort did not meet the Hardy-Weinberg equilibrium at the TAS2R38 locus, showing a very low frequency of subjects carrying the PAV/AVI diplotype. Independently, in healthy controls who were in equilibrium at the locus, PAV/PAV homozygous and heterozygous rated PTC bitterness higher compared to AVI/AVI or rare genotypes.
Our findings, by showing that an only taster haplotype (PAV) is not sufficient to evoke high responses of TAS2R38 receptor in patients with taste disorders, suggest that the genetic constitution may represent a risk factor for the development of taste disorders.
2c Laryngoscope, 129:E307-E312, 2019.
目的/假设：个体间的味觉敏感度差异很大，这影响了他们的饮食行为和健康，因此味觉障碍会影响生活质量。感知苯硫脲（PTC）等硫代尿素化合物苦味的能力在很大程度上被认为是一般味觉敏感度、食物偏好和健康的标志。PTC 敏感性受 TAS2R38 受体及其遗传常见变体的调节。我们研究 TAS2R38 受体在味觉障碍中的作用，目的是了解这些障碍是否可以遗传决定。
前瞻性队列研究。
评估患者队列与健康对照组之间对 PTC 的反应差异。所有受试者均接受嗅觉和味觉功能的标准化测试，并对 TAS2R38 基因进行基因分型。
PAV/PAV 纯合子患者的 PTC 评分较高，而 PAV/AVI 基因型的评分较低，与 AVI/AVI 或罕见基因型的评分相似。此外，患者队列在 TAS2R38 基因座不符合 Hardy-Weinberg 平衡，携带 PAV/AVI 二倍型的受试者频率非常低。此外，在平衡的健康对照组中，PAV/PAV 纯合子和杂合子对 PTC 苦味的评分均高于 AVI/AVI 或罕见基因型。
我们的发现表明，仅一个味觉者单倍型（PAV）不足以引起味觉障碍患者 TAS2R38 受体的高反应，这表明遗传构成可能是味觉障碍发展的一个风险因素。
2c Laryngoscope, 129:E307-E312, 2019.
