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GVGT! Most Massive DNA Research / Study, revealed that Japs are just northern Chinese! 八格野鹿!中国人架?

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最大规模中国人基因库研究结果首次发表,汉族可分成7个亚群
2020-05-11 22:24



探访“生物资源基因库”梵净山

最大规模中国人基因库研究结果首次发表。

4月30日,瑞金医院内分泌科领衔的ChinaMAP(中国代谢解析计划)联盟携全国29家研究机构和医院,在中科院上海生命科学研究院主办的《Cell Research》杂志首次报道了对覆盖全国27个省份和直辖市,8个民族,超过1万人的高深度全基因组测序数据和表型的系统性分析。

研究团队对队列中代表中国不同地区和民族的10588人DNA样本进行了40×深度全基因组测序,完成了高质量的中国人群遗传变异数据构建、中国人群体结构分析、基因组特征比较以及变异频谱和致病性变异解析。

此次发表意味着,通过中国人自己的仪器、平台、分析方法,对中国人的基因组特征进行深入、广泛的研究,具有前所未有的重要意义。

日本人群与中国北方汉族人群聚类完全重叠

为什么有些人喝酒脸红,为什么有些人更容易患癌?其实,这些都与体内某些特定基因有关。

长期以来,中国人的很多遗传疾病研究,都直接应用外国人的数据和结论。但由于不同地域人群和种族之间的历史渊源和遗传背景存在着巨大差异,如果把具有其他人群偏向性的知识和结论,直接拿来做为中国人的疾病风险评估、遗传咨询或诊断治疗依据,并不完善、可靠。

国家代谢性疾病临床医学研究中心(上海)基于瑞金医院牵头开展的多项覆盖全国的队列研究,依托转化医学国家重大科技基础设施(上海)和医学基因组学国家重点实验室,实施了中国代谢解析计划ChinaMAP (China Metabolic Analytics Project)。

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本文图片均为“上海交通大学医学院附属瑞金医院”微信公众号 图

研究覆盖中国七大地理区域,包括了人口排名前十的汉族、壮族、回族、满族、苗族、彝族、藏族和蒙古族,显示了中华民族跨地理区域人群遗传背景的多样性和复杂性。

研究团队首次揭示了汉族人群可显著分成7个亚群:北方汉族、西北汉族、东部汉族、中部汉族、南方汉族、东南汉族、和岭南汉族。

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少数民族中,藏族、彝族、蒙古族、苗族和壮族都有着独特的人群聚类,而满族和北方汉族相近,回族和西北、北方汉族相近。不同地域人群的变异特征也与中国历史上的人口迁徙和变迁相关,例如河西走廊是丝绸之路中不同民族迁徙的交通要道,历史上包括粟特人等许多民族曾在此经商生活。

瑞金医院内分泌科主任王卫庆教授介绍,研究团队对队列中代表中国不同地区和民族的10588人DNA样本进行了40×深度全基因组测序,完成了高质量的中国人群遗传变异数据构建、中国人群体结构分析、基因组特征比较以及变异频谱和致病性变异解析。在ChinaMAP一期数据库中,包含1.36亿个基因多态性位点SNP和1千万个插入或缺失位点(NDEL),其中一半是在国际通用的多个数据库中均没有的新位点。

不少遗传性疾病是写在基因密码中的。疾病相关变异位点在中国人群与欧美人群中的频率存在差异,因此,中国的遗传咨询和解读,对重要性不确定的基因变异(VUS)的研究,以及相关临床指南和路径制定,需要依据中国人自己的大样本和高质量数据。

研究揭示,现代河西走廊地区的人们具有的基因多态性位点数量更多更复杂。与全世界其他人群相比,中国人的遗传特征与欧洲、非洲、南亚和拉丁美洲人群之间存在着巨大差异,与非洲人群差距最大,而与东亚人群非常相似。研究者在成分分析中发现,日本人群与中国北方汉族人群聚类完全重叠。

山东人酒量并不突出

ChinaMAP对中国人的营养代谢和药物代谢相关遗传特征也进行了分析比较。

对受到广泛关注的酒精代谢能力,从总体上看,北方人比南方人酒量相对更好,藏族、蒙古族、彝族人民和河南人酒量居于全国前列,山东人酒量并不突出,福建人和广东人排在最后。

ChinaMAP证实,导致喝酒脸红和酒精代谢能力差的乙醛脱氢酶2基因rs671变异是东亚人特异性的,在中国人群中的携带者(纯合子比例4.50%,杂合子比例34.27%)远高于全球其他人群。rs671变异也是诱发食管癌发生的重要风险因素,所以喝酒脸红应少喝酒。

代谢性疾病,特别是Ⅱ型糖尿病和肥胖,已成为中国和世界范围内发病率最高的重大慢病。但是,欧洲人群中最显著的Ⅱ型糖尿病遗传风险TCF7L2基因变异(如rs7903146)在中国人中的频率却很低,可见在代谢特征和疾病研究中,仅参考和验证欧美人群的结果是不行的。

另外,一个人携带的某个基因变异产生的疾病风险可能并不大,但综合多个基因变异的作用后对个体特征有重大影响。因此,基于特定人群的大规模基因型和表型数据库,通过多基因风险评分(PRS)评估个体的疾病风险是一种比较准确的方法。

在ChinaMAP研究中,研究者对Ⅱ型糖尿病遗传风险进行了多基因风险评分,以量化评分、年龄和血糖值的排序三维显示了每个人在整个群体中的精确位置。多基因风险评分排名显示了Ⅱ型糖尿病高风险和低风险的个体之间存在非常显著的血糖差异,高风险个体随着年龄的增加,空腹和餐后2小时血糖都显著高于中风险和低风险者。

此外对比证实,基于东亚人群的基础数据比基于欧洲人群的数据结果更加准确。这些结果提示,基于中国人群基础数据对Ⅱ型糖尿病及其他代谢性疾病进行精确风险评估的重要性,对重大慢病的预防、个体化健康管理和公共卫生决策具有价值。

综上所述,ChinaMAP以覆盖中国各地区的研究队列为基础建立了高质量中国人群数据库,通过高深度全基因组数据和精细表型分析,可为疾病机制研究、预防、遗传咨询和公共卫生管理提供依据。

(本文来自澎湃新闻,更多原创资讯请下载“澎湃新闻”APP)返回搜狐,查看更多


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The results of the largest Chinese gene bank research are published for the first time, the Han nationality can be divided into 7 subgroups
2020-05-11 22:24

Visiting Fanjing Mountain, the "biological resource gene bank"

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 Chinese population genetic variation data, analysis of Chinese population structure, comparison of genomic characteristics, and variation spectrum 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 people , 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 pictures in this article are the WeChat public account of "Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine"

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 the Chinese population and the European and American populations. Therefore, China ’s genetic counseling and interpretation, 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 in the Chinese population (the proportion of homozygotes is 4.50% and the proportion of heterozygotes is 34.27%) is 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 only refer to and verify the results of European and American populations. .

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 multigene 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.

(This article is from Peng Pao News, for more original information, please download the "Peng Pao News" APP) Back to Sohu, see more
 

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May not be...northern chinese dont resemble the Japanese...esp the height...more likely the early dynasty china kings have been giving the more inferior genetic boys and girls to them on diplomacy grounds...even the jap av girls look chinese
 
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