Knaapila Antti, Keskitalo Kaisu, Kallela Mikko, Wessman Maija, Sammalisto Sampo, Hiekkalinna Tero, Palotie Aarno, Peltonen Leena, Tuorila Hely, Perola Markus
Department of Food Technology, University of Helsinki, Helsinki, Finland.
Eur J Hum Genet. 2007 May;15(5):596-602. doi: 10.1038/sj.ejhg.5201804. Epub 2007 Mar 7.
Although potential odorant receptor genes have been identified, the precise genetic component of perception of odours is still obscure. Although there is some evidence for heritability of a few olfactory-related traits, no genome-wide search for loci harboring underlying genes has been published to date. We performed a genome-wide scan to identify loci affecting the identification, intensity and pleasantness of 12 odours (cinnamon, turpentine, lemon, smoke, chocolate, rose, paint thinner, banana, pineapple, gasoline, soap, onion) using 146 Finnish adults from 26 families. Several of these traits showed heritable variation in the families. Suggestive evidence of linkage was found for the pleasantness of cinnamon odour (h(2)=61%) on chromosome 4q32.3 (multipoint logarithm of the odds (LOD) score 3.01), as well as for the perceived intensity of paint thinner odour (h(2)=31%) on chromosome 2p14 (multipoint LOD score 2.55). As these loci do not contain any known human odorant receptor genes, they may rather harbor genes that affect the central processing than the peripheral detection of the odour signal. Thus, perception of odours is potentially modified by genes other than those encoding odorant receptors.
尽管潜在的气味受体基因已被识别，但气味感知的确切遗传成分仍不清楚。虽然有一些证据表明少数嗅觉相关性状具有遗传性，但迄今为止尚未发表全基因组范围内对潜在基因所在位点的搜索。我们利用来自26个家庭的146名芬兰成年人进行了全基因组扫描，以识别影响12种气味（肉桂、松节油、柠檬、烟、巧克力、玫瑰、油漆稀释剂、香蕉、菠萝、汽油、肥皂、洋葱）识别、强度和愉悦度的位点。这些性状中有几个在家庭中表现出遗传变异。在4号染色体q32.3区域发现了肉桂气味愉悦度（h(2)=61%）的连锁提示证据（多点对数优势（LOD）得分3.01），以及在2号染色体p14区域发现了油漆稀释剂气味感知强度（h(2)=31%）的连锁提示证据（多点LOD得分2.55）。由于这些位点不包含任何已知的人类气味受体基因，它们可能包含影响气味信号中枢处理而非外周检测的基因。因此，气味感知可能受到编码气味受体以外的基因的影响。
