Analyzing fingerprint pattern genes can study early identification of diseases
Analyzing fingerprint pattern genes can study early identification of diseases. There are many mysteries about fingerprints. my country has recently discovered that limb development-related genes play a key role in the formation of fingerprint patterns. Analyzing fingerprint pattern genes can study early identification of diseases. Analysis of fingerprint pattern genes can study early identification of diseases 1
When you think of fingerprints, what do you think of? Is it the fingerprint-taking scene in a criminal investigation movie, or is it when your mother used your fingers to count "buckets" and "dustpans" when you were a child? There are many mysteries about fingerprints. However, little is known about the biological mechanisms of fingerprint formation.
In order to solve this mystery, the team of researcher Wang Sijia from the Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, the team of Professor Dennis Hutton of the University of Edinburgh, and the team of Professor Jin Li, an academician of the Chinese Academy of Sciences and Fudan University, collaborated with more than ten scientific research institutions at home and abroad. The agency has conducted in-depth research on this. After analyzing the relationship between nearly a million human genetic loci and fingerprint patterns, they found that limb development-related genes play a key role in the formation of fingerprint patterns, which is expected to enable early identification and screening of specific diseases through skin pattern phenotypes. Provide new ideas.
On January 7, 2022, Beijing time, the relevant research results were published in the international authoritative academic journal "Cell".
The longer the little finger is, the shorter the palm length, the more bucket-shaped patterns on the hands.
"Asian fingerprint patterns have more bucket-shaped patterns and fewer dustpan-shaped patterns. Except for these two "It's more common, and there's also the bow type." Wang Sijia said that fingerprint patterns are formed in the early stages of embryonic development and remain unchanged throughout life.
Bucket type (left) and skip type. Photo by Huang Haihua
Researchers conducted the largest genome-wide association analysis of fingerprint patterns to date on more than 23,000 individuals, and identified 43 genetic loci related to human fingerprint patterns.
Surprisingly, although the fingerprints are on the skin, these genes appear in large numbers in pathways related to limb development functions rather than skin development-related pathways.
Based on experimental observations in mouse animal models and human embryonic tissues, the team found that it is the mesenchymal cells that support the role of the EVI1 gene in shaping limbs and fingers that are expressed in limb development, not the skin. Developmental epithelial cells. This further suggests that fingerprint-related genes affect the formation of fingerprint patterns by regulating limb development.
The study also found a close correlation between fingerprint patterns and finger length ratios. For example, the longer the little finger is, the shorter the palm length is, and the more bucket-shaped patterns are on both hands; and the distal knuckles of the index finger (where fingerprints are formed) The longer it is, the fewer the bucket-shaped patterns will be.
The skin pattern phenotype can assist in screening for Down syndrome
Previously, the scientific community has discovered the association between different skin pattern phenotypes and many congenital genetic diseases. For example, patients with Down syndrome may have characteristics such as broken palms and arch-shaped ball marks on the big toes; another example is that in the 1960s, studies found that patients with leukemia had more bucket-shaped fingerprint patterns. Although this is not a predictive model, no one knows why.
This research provides an important theoretical basis for the relationship between fingerprint patterns and diseases and health, making it possible to "recognize diseases by looking at hands" in the future.
Wang Sijia (third from left), the first author of the paper Li Jinxi (second from left) and other researchers are discussing. Photo by Qi Xinru
"We have previously obtained the invention patent for 'Down syndrome auxiliary screening for skin pattern', which is also the first auxiliary screening system for Down syndrome based on skin pattern phenotype." Wang Sijia said that the team is cooperating with medical institutions such as the Children's Hospital of Fudan University, hoping to apply relevant research results as early as possible in the early screening of newborn congenital diseases to achieve early diagnosis and early treatment.
Zhang Haiguo, the first author of the paper and a professor at the School of Life Sciences at Fudan University, said that ink has been used to collect fingerprints in the past, and the research team independently developed an electronic fingerprint collector.
"Navigation map" brings a lot of "question marks"
"This is a classic case of human phenotypic research and is of great significance.
" Jin Li, the corresponding author of the paper and chief scientist of the Human Phenotype Science Project, believes that this result not only discovered for the first time a strong correlation between fingerprint patterns and limb phenotypes, but also clarified the genes behind fingerprints and related This also shows that the research idea of ??"human phenomics" is effective, a breakthrough in research strategies, and the establishment of a research paradigm.
If genes are an intrinsic code, The phenotype caused by the interaction of genes and environment is the external expression of the code. The so-called human phenotype is a collection of all biological characteristics of the human body.
“Why does everyone’s fingerprints differ? Why do koala bears have different fingerprints? It has fingerprints that are very similar to those of humans... These interesting questions await us to explore one by one. " said Li Jinxi, the first author of the paper and a postdoctoral fellow at Fudan University's Institute of Human Phenotyping.
Fudan University is vigorously promoting the Human Phenotyping Big Science Project with domestic and foreign institutions and will collect data from a considerable group of volunteers. Phenotypic data, and then discover and analyze the strong correlations between phenotypes, especially those that are closely related to human health that scientists have not noticed yet, and ultimately form a "map" composed of various strong correlations. Navigation Chart" provides new guidance and direction for future life and health research.
Currently, based on a cohort study of more than 800 people carried out by Fudan University in Shanghai, with nearly 30,000 phenotypes measured per person, from A team of Chinese scientists from different institutions has initially drawn the world's first "Human Phenotype Navigation Map" and discovered more than 1.5 million strong associations, of which 39% were cross-field strong associations, most of which were discovered for the first time by the scientific community.
“If Shanghai wants to become a source of innovation with global influence, it must not only solve scientific problems, but also raise new scientific questions first. This 'navigation map' has brought a large number of 'question marks', which are waiting for scientists to study and decipher. This is also one of our important next steps. "Jin Li said. Analyzing fingerprint pattern genes can study early identification of diseases 2
Fingerprints are skin characteristics that everyone has, but does it have any connection with our physical development and health status? Recently, Fudan University A study led by the University and the Shanghai Institute of Nutrition and Health of the Chinese Academy of Sciences revealed this mystery for the first time, confirming that human fingerprints and limb development are highly genetically related. This major result was published today (January 7) in the International Top Biology The first issue of the scientific journal "Cell" in 2022
For a long time, it has been generally believed that fingerprints are only a genetic characteristic related to the skin. In 2018, my country launched the "Human The "Phenome" international science project conducts more in-depth genetic research on various human life characteristics. Related teams from Fudan University and the Chinese Academy of Sciences, in conjunction with more than a dozen scientific research institutions at home and abroad, collected fingerprint patterns from multi-ethnic groups and analyzed nearly a hundred Thousands of genetic loci were identified, and it was finally confirmed that limb development-related genes play a leading role in the formation of fingerprint pattern phenotype.
Fudan University postdoctoral fellow Li Jinxi: Finally, 43 loci related to fingerprint development were screened. In fact, there are thousands of sites. We were actually quite surprised to find so many at once, and there are still very strong regularities between them, and they also point to limb development.
Chinese Academy of Sciences Shanghai Nutrition and Health. Wang Sijia, a researcher at the institute: Take the length of fingers, for example. We found that people with more bucket-shaped patterns have longer little fingers. This is very interesting. The most breakthrough thing about this research is that fingerprint patterns have never been found before. What genes are behind the differences? This is the first time we have discovered that the differences in fingerprints are caused by genes related to limb development.
The first time we have cracked the genetic code of fingerprints, not only. Theoretical results also herald the long-term prospects of human phenotypic research. Through in-depth research on the external characteristics and genetic genes of the human body, it has great value in various fields such as early screening of congenital diseases, prevention of human lesions, and occupational physical selection. Currently, the scientific research team has already Collaborate with medical institutions to further expand practical research in applied fields.
Wang Sijia, a researcher at the Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences: Let’s take Down syndrome as an example. After a child is born, after I get his fingerprint characteristics, I can 98% The accuracy rate can be used to determine whether the child has Down syndrome. If you discover it at the age of 0, the effect of this intervention is very different from that of an intervention that is discovered at the age of two. In the end, it can lead to The difference between whether you can take care of yourself or not.
Jin Li, Academician of the Chinese Academy of Sciences and President of Fudan University: The human phenome refers to the collection of all biological characteristics of the human body. A very important purpose of our phenome research is to discover The correlation mechanism between gene phenotype and environment, as well as macroscopic and microscopic manifestations, especially the strong correlation between phenotypes that are closely related to human health that scientists have not noticed yet, has also brought a lot of question marks to our scientific community. , waiting for our scientists to further study and crack. Analysis of fingerprint pattern genes can study early identification of diseases 3
Human fingerprints are one of the few life characteristics that will not change from birth to old age. It is precisely because of its constancy and high heritability that It has become the most widely studied type of skin texture. How are human fingerprints formed? Is there a relationship between disease and a person's appearance? Wang Sijia's team at the Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Dennis Hydeen's team at the University of Edinburgh, and Jin Li's team at Fudan University jointly conducted research from more than ten scientific research institutions at home and abroad and found that genes related to human limb development rather than skin genes are involved in the formation of fingerprint pattern phenotypes. It plays a key role in the study, which is expected to provide new ideas for the early identification and screening of specific diseases through skin pattern phenotypes.
Today (January 7) at 0:00, the results were published in 2022 under the title "Limb development genes underlie variation in human fingerprint patterns" ("Limb development genes underlie variation in human fingerprint patterns") The first main issue of Cell.
The significance of this result is not only the discovery of fingerprint genes, or the relationship between fingerprints and finger length. It also opened up a new research paradigm.
The genes that determine fingerprints are enriched in pathways related to limb development, rather than pathways related to skin development
Why do primate fingerprints differ from those of humans? Too similar, but koala and human fingerprints are very similar? In the 1960s, many papers suggested that patients with leukemia have more bucket-shaped fingerprints. Is there a relationship between the two? Why are the fingerprints of people with Down syndrome so different from those of ordinary people? ...
There are three major types of human fingerprints, arcuate, bucket and skip. There are many interesting scientific questions about fingerprints, and which genes are closely related to fingerprint phenotypes, and what is behind them. Genetic mechanism?
The joint research team started by locating genetic variations related to fingerprint pattern phenotypes and conducted genome-wide association scanning and multi-population analysis on more than 23,000 individuals from 5 East Asian populations and 3 European populations. 43 genetic loci related to human fingerprint patterns were identified.
The research team found that these genes were significantly enriched in pathways related to limb development and formation, rather than skin development. Among them, the mutation site located near the EVI1 gene in the 3q26.2 region is significantly correlated with the composite phenotype of the middle three fingerprints, thus forming the "fingerprint module phenomenon" discovered at the beginning of the last century (the middle three fingerprints are highly correlated) Phenomic and genetic explanations are provided.
More than that, based on experimental observations of mouse animal models and human embryonic tissues, the team found that during the series of processes from limb development to striae formation in human fetal tissue, What supports the EVI1 gene's role in shaping limbs and fingers is that it is expressed in mesenchymal cells during limb development, not in epithelial cells during skin development. This is further consistent with the research conclusion: fingerprint-related genes affect the formation of fingerprint patterns by regulating limb development.
Through multi-phenotypic association analysis, the study also found that fingerprints and finger length ratios are closely related, and the two have the same genetic basis.
For example, the longer the little finger is and the palm length is shorter, the more bucket-shaped patterns on both hands will be; while the distal knuckle of the index finger (where fingerprints are formed) is relatively longer, and the fewer bucket-shaped patterns will be.
Fingerprint genes are not only related to limb development, but also to diseases
"The skin pattern phenotype is an important part of the human body's appearance phenotype, and is related to other human body phenotypes and diseases. There is a close connection. Through this study, we have revealed that a series of important genes related to limb development affect the formation of fingerprint patterns, and these genes often play an important 'one cause and multiple effects' role in human development." He said that like "dominoes" arranged next to each other, limb development genes are intrinsic factors that influence fingerprints.
Following this idea, this study provides an important theoretical basis for the study of the correlation between skin texture and other human phenotypes and diseases. It is expected to open up the connection and mechanism of macroscopic and microscopic phenotypes, so as to " It becomes possible to identify diseases by looking at hands.
"For example, the scientific community has discovered the association between different striae phenotypes and many congenital genetic diseases. For example, patients with Down syndrome may have amputated hands and feet. Characteristics such as hallux ball pattern." Wang Sijia said that based on relevant results, the team developed the first auxiliary screening system for Down syndrome based on skin pattern phenotypes, with an accuracy of 98%. At present, this result has applied for a patent and is cooperating with medical institutions such as the Children's Hospital of Fudan University. It is hoped that the relevant research results can be used in early screening of newborn congenital diseases as soon as possible to achieve early diagnosis and early treatment. For another example, patients with leukemia tend to have more bucket-shaped fingerprints, which is strongly related to the gene that determines this fingerprint. The team is currently cooperating with the hospital to conduct research and looks forward to discovering the association as soon as possible.
Research paradigm innovation, demonstrating the great significance of human phenomics innovation strategy
"This result is a classic case of human phenomic research and a good reflection of human As a new paradigm, phenomics has great scientific significance as a source of innovation," commented Jin Li, the corresponding author of the paper, academician of the Chinese Academy of Sciences and professor of Fudan University. He said that this time, based on the concept of "measuring everything that can be measured" of the Human Phenotype Project, the team from Fudan University and the Chinese Academy of Sciences discovered for the first time a strong correlation between fingerprint patterns and limb phenotypes through large-scale collection of relevant data and analysis and research. , and the mechanism behind the strong correlation is that the formation of fingerprint patterns and the development of limbs are affected by the same gene EVI1. This is a typical research paradigm and method of human phenomics.
The human phenotype group is a collection of all biological characteristics of the human body. A very important purpose of conducting human phenotypic research is to discover the correlation mechanism between genes-phenotype-environment and between macro-micro phenotypes, especially the "strong correlation" and the mechanism behind it. It is reported that Fudan University is vigorously promoting the human phenome big science project with domestic and foreign partners, hoping to analyze the strong correlations between phenotypes, especially those that are closely related to human health that scientists have not noticed yet. Associations, ultimately forming a "navigation map" composed of various strong associations, providing new guidance and direction for future life and health research.
At present, through the joint efforts of a team of Chinese scientists from different institutions, based on a cohort study of more than 800 people carried out by Fudan in Shanghai, each measuring nearly 30,000 phenotypes, the world's first " "Human Phenotype Navigation Map" discovered more than 1.5 million strong associations, of which 39% were strong cross-field associations, most of which were discovered for the first time by the scientific community. "This 'navigation map' has brought a large number of 'question marks' to our scientific community, which are waiting for our scientists to further study and decipher. This is also one of our important next steps." Jin Li said.
Li Jinxi, a postdoctoral fellow at Fudan University’s Human Phenome Research Institute and School of Life Sciences, James Glover, a PhD student at the University of Edinburgh, Zhang Haiguo, a professor at the School of Life Sciences at Fudan University, and Peng Meifang, a PhD student at the School of Life Sciences at Fudan University, are the ** authors of this paper. The *same first author, Researcher Wang Sijia, Professor Denis Headon and Academician Jin Li are the *same corresponding authors of the paper.
Relevant work has been supported by the Strategic Priority Science and Technology Project of the Chinese Academy of Sciences, the Shanghai Science and Technology Major Project "International Human Phenotype Project (Phase I)", the National Key R&D Project, the National Natural Science Foundation of China, and the China Postdoctoral Science Fund-funded projects, National Science and Technology Basic Work Special Project, CAMS Medical Science Innovation Fund, National Natural Science Foundation of China major research projects, US National Institute of Oral and Craniofacial Research, European Commission, Australian Research Council, Australian National Health and Medical Research Council, UK Contract funding from Chinese and foreign units and projects such as the Medical Research Council, Wellcome Trust, Hong Kong Kadori Charitable Foundation, British Wellcome Trust, British Heart Foundation, British MRC and Cancer Research UK.