The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals

被引：184

作者：

Cao, Yanan ^{[1
,2
]}

Li, Lin ^{[1
,2
]}

Xu, Min ^{[1
]}

Feng, Zhimin ^{[1
]}

Sun, Xiaohui ^{[1
]}

Lu, Jieli ^{[1
]}

Xu, Yu ^{[1
]}

Du, Peina ^{[1
]}

Wang, Tiange ^{[1
]}

Hu, Ruying ^{[3
]}

Ye, Zhen ^{[3
]}

Shi, Lixin ^{[4
]}

Tang, Xulei ^{[5
]}

Yan, Li ^{[6
]}

Gao, Zhengnan ^{[7
]}

Chen, Gang ^{[8
]}

Zhang, Yinfei ^{[9
]}

Chen, Lulu ^{[10
]}

Ning, Guang ^{[1
]}

Bi, Yufang ^{[1
]}

Wang, Weiqing ^{[1
]}

机构：

[1] Shanghai Jiao Tong Univ, Ruijin Hosp, Sch Med,Natl Clin Res Ctr Metab Dis,State Key Lab, Shanghai Inst Endocrine & Metab Dis,Shanghai Clin, Shanghai 200025, Peoples R China

[2] Shanghai Jiao Tong Univ, Natl Res Ctr Translat Med, Natl Key Sci Infrastruct Translat Med Shanghai, Shanghai 200240, Peoples R China

[3] Zhejiang Prov Ctr Dis Control & Prevent, Hangzhou 310006, Zhejiang, Peoples R China

[4] Guiyang Med Coll, Affiliated Hosp, Guiyang 550004, Guizhou, Peoples R China

[5] Lanzhou Univ, Hosp 1, Lanzhou 730000, Gansu, Peoples R China

[6] Sun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R China

[7] Dalian Municipal Cent Hosp, Dalian 116033, Liaoning, Peoples R China

[8] Fujian Med Univ, Fujian Prov Hosp, Fuzhou 350001, Fujian, Peoples R China

[9] Cent Hosp Shanghai Jiading Dist, Shanghai 201800, Peoples R China

[10] Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Wuhan 430022, Hubei, Peoples R China

来源：

CELL RESEARCH | 2020年 / 30卷 / 09期

基金：

中国国家自然科学基金;

关键词：

SINGLE-NUCLEOTIDE POLYMORPHISMS; CHINESE DIABETIC INDIVIDUALS; OF-FUNCTION VARIANTS; ENERGY HOMEOSTASIS; WIDE ASSOCIATION; RISK-EVALUATION; DISEASE; TRANSCRIPTION; GENES; LOCI;

D O I：

10.1038/s41422-020-0322-9

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Metabolic diseases are the most common and rapidly growing health issues worldwide. The massive population-based human genetics is crucial for the precise prevention and intervention of metabolic disorders. The China Metabolic Analytics Project (ChinaMAP) is based on cohort studies across diverse regions and ethnic groups with metabolic phenotypic data in China. Here, we describe the centralized analysis of the deep whole genome sequencing data and the genetic bases of metabolic traits in 10,588 individuals from the ChinaMAP. The frequency spectrum of variants, population structure, pathogenic variants and novel genomic characteristics were analyzed. The individual genetic evaluations of Mendelian diseases, nutrition and drug metabolism, and traits of blood glucose and BMI were integrated. Our study establishes a large-scale and deep resource for the genetics of East Asians and provides opportunities for novel genetic discoveries of metabolic characteristics and disorders.

引用

页码：717 / 731

页数：15

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