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遗传学对气味感知的影响:快速嗅觉测试能否有效筛查所有人?

Effects of genetics on odor perception: Can a quick smell test effectively screen everyone?

作者信息

Hunter Stephanie R, Lin Cailu, Nguyen Ha, Hannum Mackenzie E, Bell Katherine, Huang Amy, Joseph Paule V, Parma Valentina, Dalton Pamela H, Reed Danielle R

机构信息

Monell Chemical Senses Center, Philadelphia, PA, United States.

National Institute of Alcohol Abuse and Alcoholism, Section of Sensory Science and Metabolism & National Institute of Nursing Research, Bethesda, MD, United States.

出版信息

Chem Senses. 2024 Jan 1;49. doi: 10.1093/chemse/bjae025.

DOI:10.1093/chemse/bjae025
PMID:38877790
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11519045/
Abstract

SCENTinel, a rapid smell test designed to screen for olfactory disorders, including anosmia (no ability to smell an odor) and parosmia (distorted sense of smell), measures 4 components of olfactory function: detection, intensity, identification, and pleasantness. Each test card contains one of 9 odorant mixtures. Some people born with genetic insensitivities to specific odorants (i.e. specific anosmia) may fail the test if they cannot smell an odorant but otherwise have a normal sense of smell. However, using odorant mixtures has largely been found to prevent this from happening. To better understand whether genetic differences affect SCENTinel test results, we asked genetically informative adult participants (twins or triplets, N = 630; singletons, N = 370) to complete the SCENTinel test. A subset of twins (n = 304) also provided a saliva sample for genotyping. We examined data for differences between the 9 possible SCENTinel odors; effects of age, sex, and race on SCENTinel performance, test-retest variability; and heritability using both structured equation modeling and SNP-based statistical methods. None of these strategies provided evidence for specific anosmia for any of the odors, but ratings of pleasantness were, in part, genetically determined (h2 = 0.40) and were nominally associated with alleles of odorant receptors (e.g. OR2T33 and OR1G1; P < 0.001). These results provide evidence that using odorant mixtures protected against effects of specific anosmia for ratings of intensity but that ratings of pleasantness showed effects of inheritance, possibly informed by olfactory receptor genotypes.

摘要

SCENTinel是一种用于筛查嗅觉障碍的快速嗅觉测试,包括嗅觉丧失(无法闻到气味)和嗅觉异常(嗅觉扭曲),它测量嗅觉功能的四个组成部分:检测、强度、识别和愉悦度。每张测试卡包含9种气味混合物中的一种。一些天生对特定气味剂有遗传不敏感的人(即特定嗅觉丧失),如果他们闻不到某种气味剂,但其他方面嗅觉正常,可能会测试不通过。然而,大量研究发现使用气味混合物可以防止这种情况发生。为了更好地了解基因差异是否会影响SCENTinel测试结果,我们让具有遗传信息的成年参与者(双胞胎或三胞胎,N = 630;单胎,N = 370)完成SCENTinel测试。一部分双胞胎(n = 304)还提供了唾液样本用于基因分型。我们检查了9种可能的SCENTinel气味之间的数据差异;年龄、性别和种族对SCENTinel测试表现的影响、重测变异性;以及使用结构方程模型和基于单核苷酸多态性(SNP)的统计方法进行的遗传力分析。这些策略均未提供任何一种气味存在特定嗅觉丧失的证据,但愉悦度评分部分由基因决定(h2 = 0.40),并且与气味受体等位基因名义上相关(例如OR2T33和OR1G1;P < 0.001)。这些结果表明,使用气味混合物可防止特定嗅觉丧失对强度评分产生影响,但愉悦度评分显示出遗传效应,可能受嗅觉受体基因型影响。

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本文引用的文献

1
Proof-of-concept: SCENTinel 1.1 rapidly discriminates COVID-19-related olfactory disorders.概念验证:SCENTinel 1.1 快速区分与 COVID-19 相关的嗅觉障碍。
Chem Senses. 2023 Jan 1;48. doi: 10.1093/chemse/bjad002.
2
Genetic variation in the human olfactory receptor OR5AN1 associates with the perception of musks.人类嗅觉受体 OR5AN1 中的遗传变异与麝香感知有关。
Chem Senses. 2023 Jan 1;48. doi: 10.1093/chemse/bjac037.
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A follow-up on quantitative and qualitative olfactory dysfunction and other symptoms in patients recovering from COVID-19 smell loss.COVID-19 嗅觉丧失患者康复后嗅觉功能和其他症状的定量和定性随访。
Rhinology. 2022 Jun 1;60(3):207-217. doi: 10.4193/Rhin21.415.
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The perception of odor pleasantness is shared across cultures.气味宜人的感知在不同文化中是共通的。
Curr Biol. 2022 May 9;32(9):2061-2066.e3. doi: 10.1016/j.cub.2022.02.062. Epub 2022 Apr 4.
5
From musk to body odor: Decoding olfaction through genetic variation.从麝香到体臭:通过遗传变异解码嗅觉。
PLoS Genet. 2022 Feb 3;18(2):e1009564. doi: 10.1371/journal.pgen.1009564. eCollection 2022 Feb.
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Olfactory loss and aging: connections with health and well-being.嗅觉丧失与衰老:与健康和幸福的关系。
Chem Senses. 2021 Jan 1;46. doi: 10.1093/chemse/bjab045.
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Altered smell and taste: Anosmia, parosmia and the impact of long Covid-19.嗅觉和味觉改变:嗅觉障碍、幻嗅及长新冠的影响。
PLoS One. 2021 Sep 24;16(9):e0256998. doi: 10.1371/journal.pone.0256998. eCollection 2021.
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Olfaction as an early marker of Parkinson's disease and Alzheimer's disease.嗅觉障碍作为帕金森病和阿尔茨海默病的早期标志物。
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Olfaction and Aging: A Review of the Current State of Research and Future Directions.嗅觉与衰老:研究现状及未来方向综述
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10
SCENTinel 1.0: Development of a Rapid Test to Screen for Smell Loss.SCENTinel 1.0:一种用于嗅觉丧失筛查的快速检测方法的开发。
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