The largest Chinese gene bank results have been published for the first time. On April 30, the ChinaMAP (China Metabolism Analysis Program), led by the Endocrinology Department of Ruijin Hospital, joined 29 research institutions and hospitals in the journal Cell Research, sponsored by the Shanghai Institute of Life Sciences of the Chinese Academy of Sciences, to report for the first time a systematic analysis of high-depth whole genome sequencing data and phenotype data and phenotypes covering 27 provinces and municipalities across the country, 8 ethnic groups and more than 10,000 people.
The team sequenced 40 x deep whole genome scans of 10,588 DNA samples representing different regions and ethnic groups in China, and completed high-quality Chinese group genetic variation data construction, analysis of Chinese population structure, genomic characteristic comparison, and analysis of variation spectrum and pathogenic variation.
The publication means that it is of unprecedented importance to conduct in-depth and extensive research on the genomic characteristics of Chinese through the Chinese of its own instruments, platforms and analytical methods.
The japanese crowd and the Chinese population in northern China have completely overlapped
Why do some people drink red, why are some people more likely to get cancer? In fact, these are related to certain genes in the body.
For a long time, many genetic disease studies Chinese have directly applied the data and conclusions of foreigners. However, due to the great differences in historical origin and genetic background between different geographical groups and ethnic groups, it is not perfect and reliable to use the knowledge and conclusions of other population biases as the basis for disease risk assessment, genetic consultation or diagnostic treatment of Chinese.
The National Center for Clinical Medicine for Metabolic Diseases (Shanghai) implemented the China Metabolic Analysis Program China Center for The Analysis of Metabolism, based on a number of nationwide queue studies led by Ruijin Hospital, relying on the National Critical Science and Technology Infrastructure for Translational Medicine (Shanghai) and the National Key Laboratory for Medical Genomics.
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The study covered seven geographical regions in China, including the top 10 Han, Zhuang, Hui, Manchu, Miao, Yi, Tibetan and Mongolian, and showed the diversity and complexity of the genetic background of the Chinese nation’s population across geographical regions.
For the first time, the research team revealed that the Han population can be significantly divided into seven subgroups: the Han in the north, the Han in the northwest, the Han in the east, the Han in the middle, the Han in the south, the Han in the south, the Han in the south, and the Han in Lingnan.
Among ethnic minorities, Tibetans, Yi, Mongolians, Miaos and Zhuang saloons all have unique population clusters, while Manchus and northern Han Chinese are close, and Hui and northwest and northern Han are close. The variability characteristics of different geographical groups are also related to the migration and change of population in China’s history, for example, the Hexi Corridor is the main route for the migration of different ethnic groups in the Silk Road, where many ethnic groups, including the Sute people, have lived in business.
Professor Wang Weiqing, director of the endocrinology department at Ruijin Hospital, said the research team sequenced 40 x deep whole genome scans of 10,588 DNA samples representing different regions and ethnic groups in China, and completed high-quality Chinese group genetic variation data construction, Chinese population structure analysis, genomic characteristic comparison, and variation spectrum and pathogenic variation analysis. In the first phase of the ChinaMAP database, there are 136 million gene polymorphic sites, SNPs and 10 million insertion or missing sites (NDLs), half of which are new sites that are not available in multiple databases that are common to the world.
Many genetic diseases are written in the genetic code. The frequency of disease-related mutation sites in Chinese groups and populations in Europe and the United States is different, so genetic counseling and interpretation in China, research on genetic variation (VUS) of uncertain importance, and relevant clinical guidelines and pathway structurned require large samples and high-quality data based on Chinese of their own.
The study revealed that people in the modern Hexi Corridor region have more and more complex genetic polymorphism sites. Compared with the rest of the world, there are significant differences between the genetic characteristics of Chinese and the populations of Europe, Africa, South Asia and Latin America, with the largest gap with the African population and very similar to the East Asian population. In the composition analysis, the researchers found that the Japanese population and the Han chinese population in northern China completely overlapped.
Shandong people’s wine quantity is not prominent
ChinaMAP also analyzed and compared the genetic characteristics of Chinese’s nutritional metabolism and drug metabolism.
For the widely concerned alcohol metabolism capacity, on the whole, the northerners than the southerners relatively better alcohol, Tibetans, Mongolians, Yi people and Henan people in the forefront of the country, Shandong people drink ingress in the last, Fujian and Guangdong people in the last.
ChinaMAP confirmed that the acetaldehyde dehydrogenase 2 gene rs671 variant, which causes poor alcohol redness and alcohol metabolism, was East Asian-specific and that carriers in the Chinese group (4.50 percent pure zymes and 34.27 percent) were much higher than the rest of the world. Rs671 mutation is also an important risk factor for the ontake of esophageal cancer, so drinking red should be less.
Metabolic diseases, especially type 2 diabetes and obesity, have become the most serious chronic diseases in China and the world. However, the most significant genetic risk of type 2 diabetes in the European population TCF7L2 gene variants (such as rs7903146) in the Chinese of the frequency is very low, it can be seen that in metabolic characteristics and disease research, only reference and verification of the results of the European population is not.
In addition, the risk of disease from a gene mutation carried by a person may not be significant, but combining the effects of multiple genetic variants has a significant impact on individual characteristics. Therefore, it is a more accurate method to assess an individual’s disease risk through a multigene risk score (PRS) based on a large-scale population-specific genotype and phenotype database.
In the ChinaMAP study, researchers gave a multi-gene risk score of the genetic risk of type 2 diabetes, which showed the exact position of each person in the entire group in three dimensions, with a quantitative score, age, and blood sugar levels. The multigene risk score shows a very significant difference in blood sugar between high-risk and low-risk individuals with type 2 diabetes, with high-risk individuals significantly higher on an empty stomach and 2 hours after meals than those at low risk.
In addition, the comparison confirmed that the basic data based on the East Asian population were more accurate than those based on the European population. These results suggest the importance of accurate risk assessment of type 2 diabetes and other metabolic diseases based on Chinese group data, which is valuable for the prevention of major chronic diseases, individualized health management, and public health decisions.
In summary, ChinaMAP has established a high-quality Chinese group database based on research queues covering various regions of China, which can provide a basis for disease mechanism research, prevention, genetic consultation and public health management through high-depth genome-wide data and fine precotype analysis.