基于“中国慢性病前瞻性研究”的遗传资源建设与应用

doi:10.16288/j.yczz.21-257

遗传 ›› 2021, Vol. 43 ›› Issue (10): 972-979.doi: 10.16288/j.yczz.21-257

基于“中国慢性病前瞻性研究”的遗传资源建设与应用

王文秀¹(), 黄涛¹(), 李立明^1,²

1. 北京大学公共卫生学院流行病与卫生统计学系,北京 100191
2. 北京大学公众健康与重大疫情防控战略研究中心,北京 100191

收稿日期:2021-07-19 修回日期:2021-09-07 出版日期:2021-10-20 发布日期:2021-09-13
通讯作者: 黄涛 E-mail:wwenxiu1996@126.com;huang.tao@pku.edu.cn
作者简介:王文秀,在读硕士研究生,专业方向：流行病与卫生统计学。E-mail: wwenxiu1996@126.com
基金资助:
国家重点研发计划项目资助编号(2020YFC2003401)

Construction and application of human genetic resources in the China Kadoorie Biobank

Wenxiu Wang¹(), Tao Huang¹(), Liming Li^1,²

1. Department of Epidemiology & Biostatistics, School of Public Health, Peking University, Beijing 100191, China;
2. Peking University Center for Public Health and Epidemic Preparedness & Response, Beijing 100191, China;

Received:2021-07-19 Revised:2021-09-07 Online:2021-10-20 Published:2021-09-13
Contact: Huang Tao E-mail:wwenxiu1996@126.com;huang.tao@pku.edu.cn
Supported by:
Supported by the National Key R&D Program of China No(2020YFC2003401)

摘要/Abstract

摘要：

目前中国慢性病负担沉重,加快推进慢性病早期预防的研究迫在眉睫。大型人群队列是慢性病病因学研究的首要设计之一,有助于人们寻找到切实可行的慢性病干预措施。同时,从大型人群队列的基因水平阐明危险因素与疾病的遗传关联,也可开辟一条研究流行病学中因果关系的新途径。本文对由中国医学科学院、北京大学和英国牛津大学联合开展的“中国慢性病前瞻性研究”项目China Kadoorie Biobank (CKB)进行了推介,重点介绍了该项目遗传数据资源的建设进展以及近年来发表的遗传学研究成果,以期为我国大型人群队列遗传资源的深入挖掘与利用提供参考。

关键词: 中国慢性病前瞻性研究, 遗传资源, 生物样本库, 大型人群队列

Abstract:

China is facing a heavy burden of chronic diseases, so it is urgent to promote the relevant researches for early prevention of chronic diseases. Large population cohorts are one of the primary study designs for etiology evidence of chronic diseases, which are helpful to explore feasible intervention measures. Moreover, clarifying the genetic associations between risk factors and diseases from the genetic level of large population cohort can also open up a new way to the exploration of causality. This article aimed to introduce the study “China Kadoorie Biobank (CKB)” jointly carried out by the Chinese Academy of Medical Sciences, Peking University and University of Oxford, with emphasis on the construction progress of genetic resources and the recent published genetic studies, in order to provide reference for the in-depth mining and utilization of genetic resources in large population cohort in China.

Key words: China Kadoorie Biobank, genetic resources, biobank, large population cohort

王文秀, 黄涛, 李立明. 基于“中国慢性病前瞻性研究”的遗传资源建设与应用[J]. 遗传, 2021, 43(10): 972-979.

Wenxiu Wang, Tao Huang, Liming Li. Construction and application of human genetic resources in the China Kadoorie Biobank[J]. Hereditas(Beijing), 2021, 43(10): 972-979.

图/表 1

参考文献 27

[1]	National Health Commission of the People's Republic of China. Report on the nutrition and chronic diseases status of Chinese residents 2020. Beijing: Peking University Medical Press, 2020.
	国家卫生健康委员会. 中国居民营养与慢性病状况报告(2020年). 北京: 北京大学医学出版社, 2020.
[2]	Li LM, Lv J. Large prospective cohort studies: a review and update. Chin J Epidemiol, 2015,36(11):1187-1189.
	李立明, 吕筠. 大型前瞻性人群队列研究进展. 中华流行病学杂志, 2015,36(11):1187-1189.
[3]	Chen ZM, Chen JS, Collins R, Guo Y, Peto R, Wu F, Li LM . China Kadoorie Biobank of 0.5 million people: survey methods, baseline characteristics and long-term follow-up. Int J Epidemiol, 2011,40(6):1652-1666.
[4]	Zheng W, Chow WH, Yang G, Jin F, Rothman N, Blair A, Li HL, Wen WQ, Ji BT, Li Q, Shu XO, Gao YT . The Shanghai Women's Health Study: rationale, study design, and baseline characteristics. Am J Epidemiol, 2005,162(11):1123-1131.
[5]	Shu XO, Li HL, Yang G, Gao J, Cai H, Takata Y, Zheng W, Xiang YB . Cohort profile: the Shanghai Men's Health Study. Int J Epidemiol, 2015,44(3):810-818.
[6]	Wang XF, Lu M, Qian J, Yang YJ, Li SL, Lu D, Yu SZ, Meng W, Ye WM, Jin L . Rationales, design and recruitment of the Taizhou Longitudinal Study. BMC Public Health, 2009,9:223.
[7]	Huang T, Li LM. Systems epidemiology. Chin J Epidemiol, 2018,39(05):694-699.
	黄涛, 李立明. 系统流行病学. 中华流行病学杂志, 2018,39(05):694-699.
[8]	Chen ZM, Lee L, Chen JS, Collins R, Wu F, Guo Y, Linksted P, Peto R . Cohort profile: the Kadoorie Study of Chronic Disease in China (KSCDC). Int J Epidemiol, 2005,34(6):1243-1249.
[9]	Chinese Preventive Medicine Association. Technical specification of management for field survey in large population-based cohort study (T/CPMA 001-2019). Chin J Epidemiol, 2019,40(7):739-747.
	中华预防医学会. 大型人群队列现场调查管理技术规范(T/CPMA 001-2019). 中华流行病学杂志, 2019,40(7):739-747.
[10]	Chinese Preventive Medicine Association. Technical specification of data security for large population-based cohort study (T/CPMA 002-2018). Chin J Epidemiol, 2019,40(1):12-16.
	中华预防医学会. 大型人群队列研究数据安全技术规范(T/CPMA 002-2018). 中华流行病学杂志, 2019,40(1):12-16.
[11]	Wood AM, Kaptoge S, Butterworth AS, Willeit P, Warnakula S, Bolton T, Paige E, Paul DS, Sweeting M, Burgess S, Bell S, Astle W, Stevens D, Koulman A, Selmer RM, Verschuren WMM, Sato S, Njølstad I, Woodward M, Salomaa V, Nordestgaard BG, Yeap BB, Fletcher A, Melander O, Kuller LH, Balkau B, Marmot M, Koenig W, Casiglia E, Cooper C, Arndt V, Franco OH, Wennberg P, Gallacher J, De La Cámara AG, Völzke H, Dahm CC, Dale CE, Bergmann MM, Crespo CJ, Van Der Schouw YT, Kaaks R, Simons LA, Lagiou P, Schoufour JD, Boer JMA, Key TJ, Rodriguez B, Moreno-Iribas C, Davidson KW, Taylor JO, Sacerdote C, Wallace RB, Quiros JR, Tumino R, Blazer 2nd DG, Linneberg A, Daimon M, Panico S, Howard B, Skeie G, Strandberg T, Weiderpass E, Nietert PJ, Psaty BM, Kromhout D, Salamanca-Fernandez E, Kiechl S, Krumholz HM, Grioni S, Palli D, Huerta JM, Price J, Sundstrom J, Arriola L, Arima H, Travis RC, Panagiotakos DB, Karakatsani A, Trichopoulou A, Kuhn T, Grobbee DE, Barrett-Connor E, Van Schoor N, Boeing H, Overvad K, Kauhanen J, Wareham N, Langenberg C, Forouhi N, Wennberg M, Despres JP, Cushman M, Cooper JA, Rodriguez CJ, Sakurai M, Shaw JE, Knuiman M, Voortman T, Meisinger C, Tjonneland A, Brenner H, Palmieri L, Dallongeville J, Brunner EJ, Assmann G, Trevisan M, Gillum RF, Ford I, Sattar N, Lazo M, Thompson SG, Ferrari P, Leon DA, Smith GD, Peto R, Jackson R, Banks E, Di Angelantonio E, Danesh J. Risk thresholds for alcohol consumption: combined analysis of individual-participant data for 599 912 current drinkers in 83 prospective studies. Lancet, 2018,391(10129):1513-1523.
[12]	Millwood IY, Walters RG, Mei XW, Guo Y, Yang L, Bian Z, Bennett DA, Chen YP, Dong CX, Hu RY, Zhou G, Yu B, Jia WF, Parish S, Clarke R, Davey Smith G, Collins R, Holmes MV, Li LM, Peto R, Chen ZM . Conventional and genetic evidence on alcohol and vascular disease aetiology: a prospective study of 500 000 men and women in China. Lancet, 2019,393(10183):1831-1842.
[13]	Baigent C, Blackwell L, Emberson J, Holland LE, Reith C, Bhala N, Peto R, Barnes EH, Keech A, Simes J, Collins R . Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials. Lancet, 2010,376(9753):1670-1681.
[14]	Di Angelantonio E, Sarwar N, Perry P, Kaptoge S, Ray KK, Thompson A, Wood AM, Lewington S, Sattar N, Packard CJ, Collins R, Thompson SG, Danesh J . Major lipids, apolipoproteins, and risk of vascular disease. JAMA, 2009,302(18):1993-2000.
[15]	Zhou MM, Wang HD, Zhu J, Chen WQ, Wang LH, Liu SW, Li YC, Wang LJ, Liu YN, Yin P, Liu JM, Yu SC, Tan F, Barber RM, Coates MM, Dicker D, Fraser M, González- Medina D, Hamavid H, Hao YT, Hu GH, Jiang GH, Kan HD, Lopez AD, Phillips MR, She J, Vos T, Wan X, Xu GL, Yan LLJ, Yu CH, Zhao Y, Zheng YF, Zou XN, Naghavi M, Wang Y, Murray CJL, Yang GH, Liang XF . Cause-specific mortality for 240 causes in China during 1990-2013: a systematic subnational analysis for the Global Burden of Disease Study 2013. Lancet, 2016,387(10015):251-272.
[16]	Sun LL, Clarke R, Bennett D, Guo Y, Walters RG, Hill M, Parish S, Millwood IY, Bian Z, Chen YP, Yu CQ, Lv J, Collins R, Chen JS, Peto R, Li LM, Chen ZM . Causal associations of blood lipids with risk of ischemic stroke and intracerebral hemorrhage in Chinese adults. Nat Med, 2019,25(4):569-574.
[17]	Millwood IY, Bennett DA, Holmes MV, Boxall R, Guo Y, Bian Z, Yang L, Sansome S, Chen YP, Du HD, Yu CQ, Hacker A, Reilly DF, Tan YL, Hill MR, Chen JS, Peto R, Shen HB, Collins R, Clarke R, Li LM, Walters RG, Chen ZM . Association of CETP gene variants with risk for vascular and nonvascular diseases among Chinese adults. JAMA Cardiol, 2018,3(1):34-43.
[18]	Al Mheid I, Quyyumi AA . Vitamin D and cardiovascular disease: controversy unresolved. J Am Coll Cardiol, 2017,70(1):89-100.
[19]	Huang T, Afzal S, Yu CQ, Guo Y, Bian Z, Yang L, Millwood IY, Walters RG, Chen YP, Chen NY, Gao RQ, Chen JS, Clarke R, Chen ZM, Ellervik C, Nordestgaard BG, Lv J, Li LM . Vitamin D and cause-specific vascular disease and mortality: a Mendelian randomisation study involving 99,012 Chinese and 106,911 European adults. BMC Med, 2019,17(1):160.
[20]	Gan W, Walters RG, Holmes MV, Bragg F, Millwood IY, Banasik K, Chen YP, Du HD, Iona A, Mahajan A, Yang L, Bian Z, Guo Y, Clarke RJ, Li LM, Mccarthy MI, Chen ZM . Evaluation of type 2 diabetes genetic risk variants in Chinese adults: findings from 93,000 individuals from the China Kadoorie Biobank. Diabetologia, 2016,59(7):1446-1457.
[21]	Li HX, Khor CC, Fan JN, Lv J, Yu CQ, Guo Y, Bian Z, Yang L, Millwood IY, Walters RG, Chen YP, Yuan JM, Yang Y, Hu C, Chen JS, Chen ZM, Koh WP, Huang T, Li LM . Genetic risk, adherence to a healthy lifestyle, and type 2 diabetes risk among 550,000 Chinese adults: results from 2 independent Asian cohorts. Am J Clin Nutr, 2020,111(3):698-707.
[22]	Chen WQ, Zheng RS, Baade PD, Zhang SW, Zeng HM, Bray F, Jemal A, Yu XQ, He J . Cancer statistics in China, 2015. CA Cancer J Clin, 2016,66(2):115-132.
[23]	Alberg AJ, Brock MV, Ford JG, Samet JM, Spivack SD . Epidemiology of lung cancer: Diagnosis and management of lung cancer, 3rd ed: American College of Chest Physicians evidence-based clinical practice guidelines. Chest, 2013,143(Suppl 5):e1S-e29S.
[24]	Dai JC, Lv J, Zhu M, Wang YZ, Qin N, Ma HX, He YQ, Zhang RX, Tan W, Fan JY, Wang TP, Zheng H, Sun Q, Wang LJ, Huang MT, Ge ZJ, Yu CQ, Guo Y, Wang TM, Wang J, Xu L, Wu WB, Chen L, Bian Z, Walters R, Millwood IY, Li XZ, Wang X, Hung RJ, Christiani DC, Chen HQ, Wang MY, Wang C, Jiang Y, Chen KX, Chen ZM, Jin GF, Wu TC, Lin DX, Hu ZB, Amos CI, Wu C, Wei QY, Jia WH, Li LM, Shen HB . Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations. Lancet Respir Med, 2019,7(10):881-891.
[25]	Jin GF, Lv J, Yang M, Wang MY, Zhu M, Wang TP, Yan CW, Yu CQ, Ding YB, Li G, Ren CL, Ni J, Zhang RX, Guo Y, Bian Z, Zheng Y, Zhang NS, Jiang Y, Chen JP, Wang YN, Xu DZ, Zheng H, Yang L, Chen YP, Walters R, Millwood IY, Dai JC, Ma HX, Chen KX, Chen ZM, Hu ZB, Wei QY, Shen HB, Li LM . Genetic risk, incident gastric cancer, and healthy lifestyle: a meta-analysis of genome-wide association studies and prospective cohort study. Lancet Oncol, 2020,21(10):1378-1386.
[26]	Zhu ZZ, Li JC, Si JH, Ma BS, Shi HWB, Lv J, Cao WH, Guo Y, Millwood IY, Walters RG, Lin K, Yang L, Chen YP, Du HD, Yu B, Hasegawa K, Camargo Jr CA, Moffatt MF, Cookson WOC, Chen JS, Chen ZM, Li LM, Yu CQ, Liang LM . A large-scale genome-wide association analysis of lung function in the Chinese population identifies novel loci and highlights shared genetic etiology with obesity. Eur Respir J, 2021.
[27]	Pang YJ, Kartsonaki C, Lv J, Millwood IY, Yu CQ, Guo Y, Chen YP, Bian Z, Yang L, Chen JS, Clarke R, Walters R, Wu SK, Li HM, Holmes MV, Li LM, Chen ZM . Observational and genetic associations of body mass index and hepatobiliary diseases in a relatively lean Chinese population. JAMA Netw Open, 2020,3(10):e2018721.

编辑推荐

Metrics

www.chinagene.cn
备案号：京ICP备09063187号-4
总访问:,今日访问:,当前在线:

基于“中国慢性病前瞻性研究”的遗传资源建设与应用

Construction and application of human genetic resources in the China Kadoorie Biobank

RichHTML

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

图/表 1

参考文献 27

相关文章 4

编辑推荐

Metrics

[1]	陈晓, 陆健, 于福清. 国外畜禽遗传资源保护及对我国的启示[J]. 遗传, 2023, 45(7): 545-552.
[2]	陈兴栋, 蒋艳峰, 徐萍, 金力. 大型人群队列遗传资源建设与利用[J]. 遗传, 2021, 43(10): 980-987.
[3]	张思思, 陈旭, 陈婷婷, 朱军伟, 唐碧霞, 王安可, 董丽莉, 张哲文, 孙艳玲, 俞彩霞, 翟爽, 孙玉彬, 陈焕新, 杜政霖, 肖景发, 章张, 鲍一明, 王彦青, 赵文明. GSA-Human：人类遗传资源数据管理的公共系统[J]. 遗传, 2021, 43(10): 988-993.
[4]	曹宗富，曹彦荣，马立广，彭左旗，胡序怀，王媛媛，徐玖瑾，马旭. 中国人类遗传资源共享利用的标准化研究[J]. 遗传, 2008, 30(1): 51-58.