大型人群队列遗传资源建设与利用

doi:10.16288/j.yczz.21-195

遗传 ›› 2021, Vol. 43 ›› Issue (10): 980-987.doi: 10.16288/j.yczz.21-195

大型人群队列遗传资源建设与利用

陈兴栋^1,²(), 蒋艳峰^1,², 徐萍^3,⁴, 金力^1,²()

1. 复旦大学人类表型组研究院,遗传工程国家重点实验室,生命科学学院,上海 200433
2. 复旦大学泰州健康科学研究院,泰州 225300
3. 中国科学院上海生命科学信息中心,上海 200031
4. 中国科学院上海营养与健康研究所,上海 200031

收稿日期:2021-06-01 修回日期:2021-07-28 出版日期:2021-10-20 发布日期:2021-09-10
通讯作者: 陈兴栋,金力 E-mail:xingdongchen@fudan.edu.cn;lijin@fudan.edu.cn
基金资助:
国家重点研发计划项目编号(2017YFC0907000);国家重点研发计划项目编号(2017YFC0907500);国家重点研发计划项目编号(2016YFC1201700);国家自然科学基金重大研究计划编号(91846302);上海市重大科技项目资助编号(2017SHZDZX01)

Construction and utilization of human genetic resources in large population cohorts

Xingdong Chen^1,²(), Yanfeng Jiang^1,², Ping Xu^3,⁴, Li Jin^1,²()

1. State Key Laboratory of Genetic Engineering, Human Phenome Institute, School of Life Sciences, Fudan University, Shanghai 200433, China
2. Fudan University Taizhou Institute of Health Sciences, Taizhou 225300, China
3. Shanghai Information Center for Life Sciences, Chinese Academy of Sciences, Shanghai 200031, China
4. Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai 200031, China

Received:2021-06-01 Revised:2021-07-28 Online:2021-10-20 Published:2021-09-10
Contact: Chen Xingdong,Jin Li E-mail:xingdongchen@fudan.edu.cn;lijin@fudan.edu.cn
Supported by:
Supported by the National Key Research and Development Program of China Nos(2017YFC0907000);Supported by the National Key Research and Development Program of China Nos(2017YFC0907500);Supported by the National Key Research and Development Program of China Nos(2016YFC1201700);the National Natural Science Foundation of China No(91846302);the Shanghai Municipal Science and Technology Major Project No(2017SHZDZX01)

摘要/Abstract

摘要：

在大数据和精准医学的时代,大型人群队列研究是慢性病病因研究的首选设计之一,队列遗传资源已成为我国重要的战略资源。推动队列遗传资源的标准化建设与利用可有效促进生物医药领域研究与技术开发的原始创新。本文以“泰州队列”为例,介绍大型人群队列遗传资源建设过程中采集、保藏和共享利用的原则、方法、标准体系和具体实践经验等,以期为我国大型人群队列研究的遗传资源建设和利用提供参考与借鉴。

关键词: 大型人群队列, 遗传资源, 标准化, 共享利用

Abstract:

In the era of big data and precision medicine, large population cohort studies are one of the preferred designs for studying the etiology of chronic diseases, and cohort genetic resources have become important strategic resources of China. Promoting the standardized construction and utilization of cohort genetic resources can effectively promote the original innovation of research and technological development in the field of biomedicine, and make full use of the rich genetic resources of China. To provide a reference for the construction and utilization of genetic resources in the cohort research in China, we took the Taizhou Longitudinal Study (TZL) as an example and introduced the principles, methods, standard system, and practical experience of the collection, preservation, and shared utilization of genetic resources in the process of the cohort construction.

Key words: large population cohort, genetic resource, standardization, shared utilization

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.

Xingdong Chen, Yanfeng Jiang, Ping Xu, Li Jin. Construction and utilization of human genetic resources in large population cohorts[J]. Hereditas(Beijing), 2021, 43(10): 980-987.

图/表 2

参考文献 20

[1]	Wang XF, Jin L. Large population-based cohort studies. Sci Sin Vitae, 2016,46(4):406-412.
	王笑峰, 金力. 大型人群队列研究. 中国科学: 生命科学, 2016,46(4):406-12.
[2]	Li LM, Lyu 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]	Slimani N, Kaaks R, Ferrari P, Casagrande C, Clavel- Chapelon F, Lotze G, Kroke A, Trichopoulos D, Trichopoulou A, Lauria C, Bellegotti M, Ocké MC, Peeters PHM, Engeset D, Lund E, Agudo A, Larrañaga N, Mattisson I, Andren C, Johansson I, Davey G, Welch AA, Overvad K, Tjønneland A, Van Staveren WA, Saracci R, Riboli E . European Prospective Investigation into Cancer and Nutrition (EPIC) calibration study: rationale, design and population characteristics. Public Health Nutr, 2002,5(6b):1125-1145.
[4]	Sudlow C, Gallacher J, Allen N, Beral V, Burton P, Danesh J, Downey P, Elliott P, Green J, Landray M, Liu B, Matthews P, Ong G, Pell J, Silman A, Young A, Sprosen T, Peakman T, Collins R . UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med, 2015,12(3):e1001779.
[5]	Colditz GA, Hankinson SE . The Nurses' Health Study: lifestyle and health among women. Nat Rev Cancer, 2005,5(5):388-396.
[6]	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.
[7]	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.
[8]	Chen ZM, Chen JS, Collins R, Guo Y, Peto R, Wu F, Li L, China Kadoorie Biobank (CKB) collaborative group . 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.
[9]	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.
[10]	Xu P, Gui YH, Jin L. Speed up the development of precision medicine with Chinese characteristics. Chin J Pediatr, 2016,54(5):321-322.
	徐萍, 桂永浩, 金力. 加快中国特色的精准医学的发展. 中华儿科杂志, 2016,54(5):321-322.
[11]	Jiang YF, Cui M, Tian WZ, Zhu SB, Chen JH, Suo C, Liu ZQ, Lu M, Xu KL, Fan M, Wang JC, Dong Q, Ye WM, Jin L, Chen X, Taizhou Imaging Study Group. Lifestyle, multi-omics features, and preclinical dementia among Chinese: The Taizhou Imaging Study. Alzheimers Dement, 2021,17(1):18-28.
[12]	Tang YT, Wang XF, Wang JC, Huang W, Gao YP, Luo Y, Lu Y . Prevalence and causes of visual impairment in a Chinese adult population: The Taizhou Eye Study. Ophthalmology, 2015,122(7):1480-1488.
[13]	Cao ZF, Cao YR, Ma LG, Peng ZQ, Hu XH, Wang YY, Xu JJ, Ma X. Standardization for sharing and utilization of Chinese genetic resources. Hereditas(Beijing), 2008,30(1):51-58.
	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. 遗传, 2008,30(1):51-58.
[14]	Jin L, Wang XF, eds. Thinking and practice on the construction of large cohorts of population health. Beijing: Peopleʼs Medical Publishing House, 2015.
	金力, 王笑峰, 主编. 人群健康大型队列建设的思考与实践. 北京: 人民卫生出版社, 2015.
[15]	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.
[16]	Regulation of the Peopleʼs Republic of China on the administration of human genetic resources.(2019-06-10)[2021-05-07].(2019-06-10)http://qikan.cqvip.com/Qikan/Article/Detail?id=71878966504849574956484857.
	《中华人民共和国人类遗传资源管理条例》. (2019-06-10)[2021-05-07].http://qikan.cqvip.com/Qikan/Article/Detail?id=71878966504849574956484857.
[17]	She QY, Zheng CX. Standardized management and operation of biobank. Chin J Nephrol Dial Transpl, 2019,28(5):494-498.
	佘琴英, 郑春霞. 生物样本库的规范化管理和标准化操作. 肾脏病与透析肾移植杂志, 2019,28(5):494-8.
[18]	Fudan University Taizhou Institute of Health Sciences. Resource sharing process of Taizhou Longitudinal Study. (2020-06-20)[2021-05-10]. http://fdtzihs.org.cn/zygxlc .
	复旦大学泰州健康科学研究院. 泰州队列资源共享流程. (2020-06-20)[2021-05-10].http://fdtzihs.org.cn/zygxlc .
[19]	Chen XD, Gole J, Gore A, He QY, Lu M, Min J, Yuan ZY, Yang XR, Jiang YF, Zhang TJ, Suo C, Li XJ, Cheng L, Zhang ZH, Niu HY, Li ZY, Xie Z, Shi H, Zhang X, Fan M, Wang XF, Yang YJ, Dang J, McConnell C, Zhang J, Wang JC, Yu SZ, Ye WM, Gao Y, Zhang K, Liu R, Jin L. Non-invasive early detection of cancer four years before conventional diagnosis using a blood test. Nat Commun, 2020,11(1):3475.
[20]	Suo C, Yang YJ, Yuan ZY, Zhang TJ, Yang XR, Qing T, Gao P, Shi LM, Fan M, Cheng HW, Lu M, Jin L, Chen XD, Ye WM . Alcohol intake interacts with functional genetic polymorphisms of aldehyde dehydrogenase (ALDH2) and alcohol dehydrogenase (ADH) to increase esophageal squamous cell cancer risk. J Thorac Oncol, 2019,14(4):712-725.

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:

大型人群队列遗传资源建设与利用

Construction and utilization of human genetic resources in large population cohorts

RichHTML

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

图/表 2

参考文献 20

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]	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.
[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.