生物谷Bioon.com 訊,，目前,，荷蘭科學(xué)家識別出三個新的遺傳位點，這些位點與人類眼睛顏色的微妙差別有關(guān),。
這項研究是由荷蘭鹿特丹伊拉斯姆斯大學(xué)醫(yī)學(xué)院的Manfred Kayser主持的,，研究結(jié)果發(fā)布在5月6日的PLoS Genetics雜志上。
先前關(guān)于人類眼睛顏色的遺傳學(xué)研究使用大致的信息特點進行分類,，比如藍色,，綠色，棕色,。實際上,，人類眼睛的顏色是連續(xù)變化的，可以從從最淺的藍色到最深的棕色,。
在這項關(guān)于人類眼睛顏色的基因組范圍研究中,，科學(xué)家使用高分辨全眼成像對大約6000名鹿特丹人的眼睛顏色進行數(shù)字量化。研究人員表示,，這個定量研究方法是經(jīng)濟,，便捷，而且高效的,，結(jié)果表明相比于之前描述的眼睛顏色分類,，人類的眼睛呈現(xiàn)出更多的顏色變化,。
在這項研究中，科學(xué)家識別了3個與眼睛顏色變化相關(guān)的新位點,。其中一個是LYST基因,，該基因之前被認為是老鼠和黃牛中的一個色素基因。另外的兩個位點之前還沒有研究發(fā)現(xiàn)其與色素相關(guān),。
新發(fā)現(xiàn)的這三個基因,，與之前識別的一些基因，能夠共同解釋50%以上的眼睛顏色差異,，這項研究代表了目前最精準的量化人類特征的基因組預(yù)測分析,。Kayser解釋說，在未來這項發(fā)現(xiàn)同樣能夠應(yīng)用于法醫(yī)學(xué)檢測,，有助于案情的偵破,。（生 物 谷 Bioon.com）
BIOON推薦原文出處：
PLoS Genetics DOI: 10.1371/journal.pgen.1000934
Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci
Fan Liu1, Andreas Wollstein1,2, Pirro G. Hysi3, Georgina A. Ankra-Badu3, Timothy D. Spector3, Daniel Park4, Gu Zhu4, Mats Larsson4, David L. Duffy4, Grant W. Montgomery4, David A. Mackey5, Susan Walsh1, Oscar Lao1, Albert Hofman6, Fernando Rivadeneira6,7, Johannes R. Vingerling6,8, André G. Uitterlinden6,7, Nicholas G. Martin4, Christopher J. Hammond3, Manfred Kayser1*
1 Department of Forensic Molecular Biology, Erasmus University Medical Center, Rotterdam, The Netherlands, 2 Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany, 3 Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom, 4 Queensland Institute of Medical Research, Brisbane, Australia, 5 Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia, 6 Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands, 7 Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands, 8 Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands
Previous studies have successfully identified genetic variants in several genes associated with human iris (eye) color; however, they all used simplified categorical trait information. Here, we quantified continuous eye color variation into hue and saturation values using high-resolution digital full-eye photographs and conducted a genome-wide association study on 5,951 Dutch Europeans from the Rotterdam Study. Three new regions, 1q42.3, 17q25.3, and 21q22.13, were highlighted meeting the criterion for genome-wide statistically significant association. The latter two loci were replicated in 2,261 individuals from the UK and in 1,282 from Australia. The LYST gene at 1q42.3 and the DSCR9 gene at 21q22.13 serve as promising functional candidates. A model for predicting quantitative eye colors explained over 50% of trait variance in the Rotterdam Study. Over all our data exemplify that fine phenotyping is a useful strategy for finding genes involved in human complex traits.
