Fingerprints are skin features that everyone has
And it's related to our physical development and
Is there any connection to health status?
In the early hours of this morning (January 7th).
By Fudan University,
Led by the Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences
A study revealed this mystery for the first time
Human fingerprint and limb development was confirmed
There is a high degree of genetic association
See the small editor of the message
The first time he looked down at his hand
Well, inside the fingerprint
What genetic secrets are implied?
Is it really possible to see the disease?
Fingerprints are bumps in the skin of the fingers
Because of its constant and high heritability
It has become the most widely studied skin texture type
How are our fingerprint patterns formed?
Which genes play a leading role in this?
Humans to fingerprint patterns such as this
The biological mechanisms of phenotype formation are still poorly understood
In order to solve the above mystery, the team of researcher Wang Sijia of the Shanghai Institute of Nutrition and Health of the Chinese Academy of Sciences, the team of Professor Denis Headon of the University of Edinburgh and the team of academician Jinli of Fudan University carried out in-depth research on this in more than ten scientific research institutions inside and outside the United Nations, through the analysis of large sample populations, accurately quantified the fingerprint patterns of a variety of ethnic groups, and after analyzing the relationship between millions of genetic loci and fingerprint patterns, pointed out that the genes related to human limb development played a key role in the formation of fingerprint pattern phenotypes. It is expected to provide new ideas for the study of early recognition and screening of specific diseases through skin pattern phenotype.
On January 7, the research results were published in the first issue of Cell in 2022 under the title "Limb development genes underlie variation in human fingerprint patterns".
Analyze the details
Analyze the genetic structure of fingerprint pattern
Where genes are the fingerprint pattern phenotypics closely related, and what are the genetic mechanisms behind them? Starting from the localization of genetic variants associated with fingerprint pattern phenotypes, the researchers conducted genome-wide association scans and multi-population meta-analysis for more than 23,000 individuals, from which 43 genetic loci associated with human fingerprint patterns were identified.
"We observed that these genes were significantly enriched in pathways related to limb development and formation, rather than in pathways related to skin development." The discovery of this feature delighted the team. Among them, the mutation sites located near the EVI1 gene in the 3q26.2 region are significantly correlated with the composite phenotype of the middle three finger fingerprints, thus providing a phenotypic and genetic explanation for the "fingerprint module phenomenon" discovered at the beginning of the last century (the middle three finger fingerprints are highly correlated).
More than that, based on experimental observations of mouse animal models and human embryonic tissue, the team found that in the series of human fetal tissue from limb development to skin pattern formation, it is the mesenchymal cells expressed during limb development that support the EVI1 gene to shape limbs and fingers, rather than epithelial cells during skin development. This is further in line with the conclusion of the study: fingerprint-related genes affect the formation of fingerprint patterns by regulating limb development.
Through multi-phenotype association analysis, the study also found a close correlation between the proportion of fingerprint pattern and finger length, and the two shared the same genetic basis. For example, the longer the little finger is relatively long, the shorter the palm length, the more two-handed bucket patterns, while the longer the distal knuckles of the index finger (where the fingerprint is formed), the less the bucket pattern.
The prospects are broad
Helps identify potential disease risks
"The skin pattern phenotype is an important part of the human appearance phenotype, and it is closely related to other phenotypes and diseases of the human body. Through this study, we revealed that what affects the formation of fingerprint patterns is a series of important genes related to limb development, and these genes often play an important role in human development. Wang Sijia said. Like the "dominoes" arranged next to each other, limb development genes are intrinsic factors of fingerprints.
Following this line of thought, the study provides an important theoretical basis for the study of the association between skin lines and other phenotypes and diseases in the human body, which is expected to open up the connection and mechanism of macroscopic and microscopic phenotypes, making it possible to "see the hands and know the disease". "For example, the scientific community has found an association between different skin patterns and many congenital genetic disorders, such as that patients with Down syndrome may have features such as broken palms and arched spherical streaks of the thumbs of the foot." It is reported that Wang Sijia's team is cooperating with medical institutions such as the Children's Hospital of Fudan University, hoping to apply the relevant research results to the early screening of neonatal congenital diseases as soon as possible to achieve early diagnosis and treatment.
Paradigm shifts
It shows the great significance of the innovative source of human phenotypic omics
"This achievement is a classic case of human phenotype group research, which well reflects the great scientific significance of human phenomics as a new paradigm with innovative sources," commented Jin Li, co-corresponding author of the paper, academician of the Chinese Academy of Sciences and professor of Fudan University. He pointed out that based on the concept of "measuring everything can be measured" in the human phenotype group plan, Fudan and the Chinese Academy of Sciences team conducted analytical research after large-scale collection of relevant data, and for the first time found a strong correlation between fingerprint patterns and limb phenotypes, and the mechanism behind the strong association lies in the formation of fingerprint patterns and the development of limbs affected by the same gene EVI1. This is a typical research paradigm and method of human phenotypic omics.
The human phenotype group is a collection of all the biological characteristics of the human body. An important purpose of human phenotypic studies is to discover the mechanisms of association between genes-phenotype-environment and macro-micro phenotypes, especially "strong associations" and the mechanisms behind them. It is reported that Fudan University is working with partners at home and abroad to vigorously promote the human phenotype group big science plan, will be a considerable number of volunteer groups as much as possible, as complete as possible to collect phenotype data, and then discover and analyze the strong associations between phenotypes, especially those that scientists have not yet noticed, and are closely related to human health phenotypics, and finally form a "navigation map" composed of various strong associations, providing new guidance and direction for future life and health research.
At present, based on the cohort study of more than 800 people and each measuring nearly 30,000 phenotypes carried out by Fudan in Shanghai, the world's first "human phenotype group navigation map" has been preliminarily drawn, and more than 1.5 million strong associations have been found, of which cross-scale strong associations account for 39%, most of which are the first discoveries in the scientific community. "This 'navigation map' has brought a huge number of 'question marks' to our scientific community, and is waiting for us scientists to further study and crack, which is also one of our important tasks in the next step." Jin Li said.
Li Jinxi, postdoctoral fellow of the Institute of Human Phenotypes of Fudan University, James Glover, Ph.D. of the University of Edinburgh, Zhang Haiguo, professor of the School of Life Sciences of Fudan University, and Peng Meifang, Ph.D. of the School of Life Sciences of Fudan University, are the co-first authors of the paper, and Researcher Wang Sijia, Professor Denis Headon and Academician Jin Li are the co-corresponding authors of the paper.
The related work has been approved by the Shanghai Municipal Science and Technology Major Project "International Human Phenotype Program (Phase I)", the Strategic Pilot Science and Technology Project of the Chinese Academy of Sciences, the National Key Research and Development Project, the National Natural Science Foundation of China, the China Postdoctoral Science Foundation, the National Science and Technology Basic Work Project, the CAMS Medical Science Innovation Fund, the National Natural Science Foundation of China Major Research Project, the National Institute of Stomatology and Craniofacial Research, the European Commission, the Australian Research Council, the Australian National Health and Medical Research Council, Contract funding from Chinese and foreign units and projects such as the British Medical Research Council, Wellcome Trust, Hong Kong Cardori Charitable Foundation, Wellcome Trust, British Heart Foundation, BRITISH MRC and British Cancer Research Centre.
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