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®,一种用于筛查嗅觉障碍的快速嗅觉测试，包括嗅觉缺失（无法闻到气味）和嗅觉缺失（嗅觉扭曲），测量嗅觉功能的四个组成部分：检测，强度,identification,和愉快。每个测试卡包含九种气味混合物之一。有些人天生对特定气味剂具有遗传不敏感性(即，特定的嗅觉缺失）如果他们闻不到气味但具有正常的嗅觉，则可能无法通过测试。然而,使用有气味的混合物已在很大程度上被发现，以防止这种情况的发生。为了更好地了解基因差异是否会影响SCENTinel®测试结果，我们询问了基因信息丰富的成年参与者（双胞胎或三胞胎，N=630；单身人士，N=370)完成SCENTinel®测试。双胞胎的子集(n=304)还提供了用于基因分型的唾液样品。我们检查了9种可能的SCENTinel®气味之间差异的数据；年龄的影响，性别,和SCENTinel®性能竞赛，测试-重测变异性；以及使用结构化方程模型和基于SNP的统计方法的遗传力。这些策略都没有提供任何气味的特定嗅觉缺失的证据，但是快乐的评级是，在某种程度上,遗传决定(h2=0.40)，名义上与气味受体的等位基因相关(例如，OR2T33和OR1G1；p<0.001）。这些结果提供了证据，表明使用气味混合物可以防止特定的嗅觉缺失对强度进行评级，但对愉悦的评级显示出遗传的影响，可能与嗅觉受体基因型有关。
