The results of the largest Chinese gene bank research are published for the first time, the Han nationality can be divided into 7 subgroups
The results of the largest Chinese gene bank study were published for the first time.
On April 30, the ChinaMAP (China Metabolic Analysis Program) Alliance led by the Endocrinology Department of Ruijin Hospital, together with 29 research institutions and hospitals across the country, reported for the first time in the "Cell Research" magazine hosted by the Shanghai Academy of Life Sciences, Chinese Academy of Sciences. Systematic analysis of high-depth whole-genome sequencing data and phenotypes of provinces and municipalities, 8 ethnic groups, and more than 10,000 people.
The research team conducted 40 × depth whole-genome sequencing of 10588 DNA samples representing different regions and ethnic groups in China in the cohort, and completed the construction of high-quality genetic variation data of the Chinese population, analysis of the structure of the Chinese population, comparison of genomic characteristics, and variation spectrum and Analysis of pathogenic variation.
This publication means that it is of unprecedented significance to carry out in-depth and extensive research on Chinese genomic characteristics through Chinese people's own instruments, platforms, and analysis methods.
The Japanese population overlaps completely with the Han population in northern China
Why do some people blush when drinking, and why are some people more susceptible to cancer? In fact, these are related to certain specific genes in the body.
For a long time, many studies of genetic diseases in China have directly used foreigners' data and conclusions. However, due to the huge differences in historical origins and genetic backgrounds between people and races in different regions, if the knowledge and conclusions that are biased by other populations are directly used as the basis for disease risk assessment, genetic counseling or diagnosis and treatment of Chinese , Not perfect and reliable.
The National Metabolic Disease Clinical Medical Research Center (Shanghai) based on a number of nationwide cohort studies led by Ruijin Hospital, relying on the National Key Science and Technology Infrastructure for Translational Medicine (Shanghai) and the State Key Laboratory of Medical Genomics, implemented the Chinese Metabolism Analysis Plan ChinaMAP (China Metabolic Analytics Project).
The study covers seven geographical regions of China, including the top ten populations of Han, Zhuang, Hui, Manchu, Miao, Yi, Tibetan and Mongolian, showing the diversity and complexity of the genetic background of the Chinese ethnic group across geographic regions.
The research team revealed for the first time that the Han population can be significantly divided into 7 subgroups: Northern Han, Northwest Han, Eastern Han, Central Han, Southern Han, Southeast Han, and Lingnan Han.
Among the ethnic minorities, Tibetans, Yis, Mongolians, Miaos and Zhuangs all have unique clusters, while Manchus are similar to Northern Hans, and Huis are similar to Northwest and Northern Hans. The variation characteristics of people in different regions are also related to population migration and changes in China's history. For example, the Hexi Corridor is the main transportation route for the migration of different ethnic groups in the Silk Road. Historically, many ethnic groups including Sogdians have lived here in business.
Professor Wang Weiqing, director of the endocrinology department of Ruijin Hospital, introduced that the research team conducted 40 × depth whole genome sequencing of DNA samples of 10588 people representing different regions and ethnic groups in China in the cohort. Analysis, comparison of genomic features, and analysis of mutation spectrum and pathogenic mutation. The ChinaMAP database contains 136 million gene polymorphism sites SNP and 10 million insertion or deletion sites (NDEL), half of which are new sites that are not available in multiple international databases.
Many genetic diseases are written in the genetic code. The frequency of disease-related mutation sites is different between Chinese and European and American populations. Therefore, genetic counseling and interpretation in China, research on genetic mutations (VUS) of uncertain importance, and the formulation of relevant clinical guidelines and pathways need to be based on The Chinese have their own large samples and high-quality data.
Studies have revealed that people in the modern Hexi Corridor region have more and more complex polymorphic loci. Compared with other populations in the world, the genetic characteristics of Chinese people are very different from those in Europe, Africa, South Asia, and Latin America. The gap is the largest between African populations and very similar to East Asian populations. The researchers found in the component analysis that the Japanese population completely overlaps with the Han population in northern China.
Shandong wine volume is not outstanding
ChinaMAP also analyzed and compared the genetic characteristics related to nutritional metabolism and drug metabolism of Chinese people.
Regarding the ability of alcohol metabolism that has received widespread attention, generally speaking, northerners have a relatively better alcohol intake than southerners. Tibetans, Mongolians, Yis, and Henans rank among the top in the country. Shandong ’s alcohol consumption is not outstanding. Fujianese and Guangdong People came last.
ChinaMAP confirmed that the rs671 mutation of the acetaldehyde dehydrogenase 2 gene, which causes drinking blush and poor alcohol metabolism, is specific to East Asians, and the carriers (4.50% homozygous, 34.27% heterozygous) in Chinese population are far higher To other people around the world. Variation of rs671 is also an important risk factor for esophageal cancer, so drinking blush should drink less.
Metabolic diseases, especially type 2 diabetes and obesity, have become the major chronic diseases with the highest incidence in China and worldwide. However, the frequency of TCF7L2 gene mutation (such as rs7903146), the most significant type 2 diabetes genetic risk in European population, is very low among Chinese people. It can be seen that in metabolic characteristics and disease research, it is not feasible to refer to and verify the results of European and American population .
In addition, the risk of disease caused by a certain gene mutation carried by a person may not be great, but the combination of multiple gene mutations has a significant impact on individual characteristics. Therefore, based on the large-scale genotype and phenotype database of a specific population, it is a more accurate method to assess the individual's disease risk through multi-gene risk score (PRS).
In the ChinaMAP study, the researchers conducted a multi-gene risk score on the genetic risk of type 2 diabetes to quantify the ranking of scores, age, and blood glucose values to three-dimensionally display each person's precise position in the entire group. The polygenic risk score ranking shows that there is a very significant difference in blood glucose between high-risk and low-risk individuals with type 2 diabetes. High-risk individuals have significantly higher fasting and 2-hour postprandial blood glucose levels than medium-risk and low with increasing age. Risky.
In addition, the comparison confirmed that the basic data based on the East Asian population is more accurate than the data based on the European population. These results suggest that the importance of accurate risk assessment of type 2 diabetes and other metabolic diseases based on basic Chinese population data is valuable for the prevention of major chronic diseases, personalized health management, and public health decision-making.
In summary, ChinaMAP has established a high-quality Chinese population database based on a research cohort covering various regions of China. Through high-depth whole-genome data and fine phenotype analysis, it can be used for disease mechanism research, prevention, genetic counseling and public health management. Provide evidence.
Surging News Correspondent Chen Sisi Correspondent Li Dong