Summary
The article understudy is devoted to the topic of genetic association and the prognosis of phenotypic characters. In practice, the probability of successfully measuring these parameters depends on the exact determination of the human phenotype (Wollstein, et al., 2017). The study focuses on such a topic as human iris pigmentation. In the course of the research, the authors present a new automatic approach that allows more accurately phenotyping. A comparison is made with previous quantitative techniques, during which it is concluded that the forecasting accuracy is increased when using the new method. Thus, the authors put forward and substantiate the effectiveness of their approach.
Analysis of the Paper
The object of research of the authors is the hue of the human eye in terms of its formation at the genetic level. Studies show that iris color depends on the number and distribution of two pigments, namely eumelanin and pheomelanin (Wollstein, et al., 2017). The first pigment absorbs almost the entire color spectrum, resulting in dark or black eyes. The second component is associated mainly with red or yellow. If there is no pigment, the light is reflected from the iris stroma, which is manifested in the bright colors of the eye, from blue to gray. Following these data, based on genetic analysis, it seems possible to make predictions regarding the color of the human eye. According to the authors, previous studies were carried out using specific phenotypes, which strictly limited the range of possible detectable hues (Wollstein, et al., 2017). The authors aim to develop such a method and approach that would allow determining it not according to categories but at a broader constant level.
Thus, it is necessary to study the relationship of specific genes with the tones of human eyes in the full-color spectrum. The authors examined previous color models and their strengths and weaknesses. After studying previous works, the researchers turned to digital scanning of people’s eyes to obtain a database of 3,000 individuals from 7 European countries (Wollstein, et al., 2017). Each eye was fully automatically scanned to get a high-resolution image, referring immediately to five well-known color determination models. The collected statistics made it possible to correlate between hue and genetic analysis. The results confirmed the existing connections, revealed new genes responsible for a particular color, and allow us to conclude the success of the developed method and its significance for medical and evolutionary genetics.
Thoughts and Conclusions
Although genetic analysis is a complex topic, the authors approach this problem by analyzing the color of people’s eyes using a specific method and correlating it with genes. In the conclusion of their work, the researchers claim that their approach is more accurate than the existing ones. In my opinion, this statement is fully substantiated for several reasons. In their work, the authors took into account and revised all currently available models for studying the color of the human eye. Such examination allowed them to highlight both weaknesses and strengths of each of the approaches. They combined five popular methods, which allowed researchers to obtain a significant amount of data by exploring the iris in different ways. Such a large number of variables provides more accurate information than using a single method.
At the same time, the study involved a group of 3,000 residents of different countries, who differ from each other both in age and gender. This fact allowed performing additional analysis of the connection of various factors to the color of the human eye and the success of its prognosis. Thus, the authors used a significant number of reasonable methods, reinforcing the study with a large control group, which allowed them to obtain an extensive database of results. The outcome described in the course of the paper confirms their statement about the usefulness and accuracy of their method. Therefore, from my point of view, the authors conducted a qualitative study in which, using various techniques, they achieved their task and proved their conclusions.
Reference
Wollstein, A., Walsh, S., Liu, F., Chakravarthy, U., Rahu, M., Seland, J.H., Soubrane, G., Tomazzoli, L., Topouzis, F., Vingerling, J.R. & Vioque, J. (2017). Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour. Scientific Reports, 7(43359), 1-11.