Application of population-based studies for precision medicine in chronic non-communicable diseases

Tao WU; Siyue WANG

doi:10.16016/j.1000-5404.202102120

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Application of population-based studies for precision medicine in chronic non-communicable diseases

Monographic Reports: | 更新时间：2026-01-09

- Application of population-based studies for precision medicine in chronic non-communicable diseases
- Journal of Third Military Medical University Vol. 43, Issue 12, Pages: 1089-1096(2021)
- 作者机构：
  
  100191 北京，北京大学公共卫生学院流行病与卫生统计学系
- 作者简介：
- 基金信息：
- DOI：10.16016/j.1000-5404.202102120
  CLC： R181.1;R181.2;R181.3
- Received：25 February 2021，
  
  Revised：2021-03-16，
  
  Published：30 June 2021
- 稿件说明：
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Tao WU, Siyue WANG. Application of population-based studies for precision medicine in chronic non-communicable diseases[J]. Journal of Third Military Medical University, 2021, 43(12): 1089-1096.
DOI：

Tao WU, Siyue WANG. Application of population-based studies for precision medicine in chronic non-communicable diseases[J]. Journal of Third Military Medical University, 2021, 43(12): 1089-1096. DOI： 10.16016/j.1000-5404.202102120.

摘要

精准医学基于个体生物、环境与生活方式暴露特征，探索个体化的疾病预防与治疗策略。常见慢性非传染性疾病大多是受遗传及环境因素共同影响的复杂疾病，多数病因尚不完全清晰。利用多组学技术，人群研究能够为精准医学在慢性病中的应用提供研究证据。人群研究的结果可以辅助揭示疾病发生发展的机制，协助疾病亚型分类，优化疾病风险预测模型，完善差异化的诊断、治疗方案及预防控制策略措施的制定，最终改善人群健康水平。

Abstract

Precision medicine aims at tailored disease prevention and treatment strategies based on individualized exposure

including biological status

environment and lifestyle

etc

. Common chronic non-communicable diseases involve a complex interplay of both genetic and environmental factors

while most of their etiologies remain unknown. With advances in multi-omics

population-based studies can contribute to the practice of precision medicine in control of chronic diseases by providing research evidence. Results from population-based studies can be beneficial to reveal etiology and pathogenesis from a population level

assist in more detailed phenotype classification

optimize disease risk prediction by better identifying high risk populations and improve targeted diagnosis

treatments

prevention and control strategies for different individuals

and ultimately promote public health standard.

关键词

Keywords

references

吴伟旋, 向前, 许军, 等. 精准医学对慢性病防控的作用及发展策略[J]. 卫生经济研究, 2017(7): 44-47.

WU W X, XIANG Q, XU J, et al . The role and development strategy of precision medicine in prevention and control of chronic diseases[J ] . Heal Econ Res, 2017(7): 44-47.

庞元捷, 吕筠, 余灿清, 等. 多组学在慢性病病因学研究中的应用及其进展[J]. 中华流行病学杂志, 2021, 42(1): 1-9.

PANG Y J, LYU J, YU C Q, et al . A multi-omics approach to investigate the etiology of non-communicable diseases: recent advance and applications[J ] . Chin J Epidemiol, 2021, 42(1): 1-9.

王冬, HU F B. 从精准医学到精准公共卫生[J]. 中华内分泌代谢杂志, 2016, 32(9): 711-715.

WANG D, HU F B. From precision medicine to precision public health[J]. Chin J Endocrinol Metab, 2016, 32(9): 711-715.

ASHLEY E A. The precision medicine initiative: a new national effort[J]. JAMA, 2015, 313(21): 2119-2120. DOI: 10.1001/jama.2015.3595.

BUGULISKIS J S. Pharmacogenomics serves as the critical driver for precision medicine[J]. Clin Omics, 2015, 2(6): 12-14, 16. DOI: 10.1089/clinomi.02.06.06.

黄涛, 李立明. 系统流行病学[J]. 中华流行病学杂志, 2018, 39(5): 694-699. DOI: 10.3760/cma.j.issn.0254-6450.2018.05.031.

HUANG T, LI L M. Systematic epidemiology[J]. Chin J Epidemiol, 2018, 39(5): 694-699. DOI: 10.3760/cma.j.issn.0254-6450.2018.05.031.

胡志斌, 顾爱华, 王建明, 等. 新形势下公共卫生与预防医学发展的新机遇[J]. 中华疾病控制杂志, 2018, 22(3): 215-216, 239.

HU Z B, GU A H, WANG J M, et al . The new opportunities of public health and preventive medicine under the new situation[J ] . Chin J Dis Control Prev, 2018, 22(3): 215-216, 239.

CHEN Z, LEE L, CHEN J, et al . Cohort profile: the kadoorie study of chronic disease in China (KSCDC)[J ] . Int J Epidemiol, 2005, 34(6): 1243-1249. DOI: 10.1093/ije/dyi174.

HORTON R. Offline: In defence of precision public health[J]. Lancet, 2018, 392(10157): 1504. DOI: 10.1016/S0140-6736(18)32741-7.

HAFEMAN D M, SCHWARTZ S. Opening the Black Box: a motivation for the assessment of mediation[J]. Int J Epidemiol, 2009, 38(3): 838-845. DOI: 10.1093/ije/dyn372.

BICTASH M, EBBELS T M, CHAN Q, et al . Opening up the "Black Box": metabolic phenotyping and metabolome-wide association studies in epidemiology[J ] . J Clin Epidemiol, 2010, 63(9): 970-979. DOI: 10.1016/j.jclinepi.2009.10.001.

HARING R, WALLASCHOFSKI H. Diving through the "-omics": the case for deep phenotyping and systems epidemiology[J]. OMICS, 2012, 16(5): 231-234. DOI: 10.1089/omi.2011.0108.

BÍRÓ K, DOMBRÁDI V, JANI A, et al . Creating a common language: defining individualized, personalized and precision prevention in public health[J ] . J Public Health (Oxf), 2018, 40(4): e552-e559. DOI: 10.1093/pubmed/fdy066.

NIU H, SHIN H, GAO F, et al . Aurora a functional single nucleotide polymorphism (SNP) correlates with clinical outcome in patients with advanced solid tumors treated with alisertib, an investigational aurora a kinase inhibitor[J ] . E Bio Medicine, 2017, 25: 50-57. DOI: 10.1016/j.ebiom.2017.10.015.

TOMLINSON I, WEBB E, CARVAJAL-CARMONAL, et al . A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21[J ] . Nat Genet, 2007, 39(8): 984-988. DOI: 10.1038/ng2085.

ZANKE B W, GREENWOOD C M T, RANGREJ J, et al . Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24[J ] . Nat Genet, 2007, 39(8): 989-994. DOI: 10.1038/ng2089.

POMERANTZ M M, AHMADIYEH N, JIA L, et al . The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer[J ] . Nat Genet, 2009, 41(8): 882-884. DOI: 10.1038/ng.403.

WHITINGTON T, GAO P, SONG W, et al . Gene regulatory mechanisms underpinning prostate cancer susceptibility[J ] . Nat Genet, 2016(4), 48: 387-397.

SMALL E J, SAAD F, CHOWDHURY S, et al . Apalutamide and overall survival in non-metastatic castration-resistant prostate cancer[J ] . Ann Oncol, 2019, 30(11): 1813-1820. DOI: 10.1093/annonc/mdz397.

OBINATA D, LAWRENCE M G, TAKAYAMA K, et al . Recent discoveries in the androgen receptor pathway in castration-resistant prostate cancer[J ] . Front Oncol, 2020, 10: 581515. DOI: 10.3389/fonc.2020.581515.

NAULT J C, MARTIN Y, CARUSO S, et al . Clinical impact of genomic diversity from early to advanced hepatocellular carcinoma[J ] . Hepatology, 2020, 71(1): 164-182. DOI: 10.1002/hep.30811.

KOPETZ S, DESAI J, CHAN E, et al . Phase Ⅱ pilot study of vemurafenib in patients with metastatic BRAF-mutated colorectal cancer[J ] . J Clin Oncol, 2015, 33(34): 4032-4038. DOI: 10.1200/jco.2015.63.2497.

YE Q H, QIN L X, FORGUES M, et al . Predicting hepatitis B virus-positive metastatic hepatocellular carcinomas using gene expression profiling and supervised machine learning[J ] . Nat Med, 2003, 9(4): 416-423. DOI: 10.1038/nm843.

BOKHMAN J V. Two pathogenetic types of endometrial carcinoma[J]. Gynecol Oncol, 1983, 15(1): 10-17. DOI: 10.1016/0090-8258(83)90111-7.

SCHULTHEIS A M, MARTELOTTO L G, DE FILIPPO M R, et al . TP53 mutational spectrum in endometrioid and serous endometrial cancers[J ] . Int J Gynecol Pathol, 2016, 35(4): 289-300. DOI: 10.1097/pgp.0000000000000243.

TALHOUK A, MCCONECHY M K, LEUNG S, et al . A clinically applicable molecular-based classification for endometrial cancers[J ] . Br J Cancer, 2015, 113(2): 299-310. DOI: 10.1038/bjc.2015.190.

TALHOUK A, HOANG L N, MCCONECHY M K, et al . Molecular classification of endometrial carcinoma on diagnostic specimens is highly concordant with final hysterectomy: earlier prognostic information to guide treatment[J ] . Gynecol Oncol, 2016, 143(1): 46-53. DOI: 10.1016/j.ygyno.2016.07.090.

TALHOUK A, MCCONECHY M K, LEUNG S, et al . Confirmation of ProMisE: a simple, genomics-based clinical classifier for endometrial cancer[J ] . Cancer, 2017, 123(5): 802-813. DOI: 10.1002/cncr.30496.

MARKOWSKA A, PAWAŁOWSKA M, LUBIN J, et al . Signalling pathways in endometrial cancer[J ] . Contemp Oncol (Pozn), 2014, 18(3): 143-148. DOI: 10.5114/wo.2014.43154.

王铭洋, 范文生, 叶明侠, 等. 子宫内膜癌分子分型及临床应用研究进展[J]. 现代妇产科进展, 2021, 30(4): 307-310, 313.

WANG M Y, FAN W S, YE M X, et al . Molecular genotyping of endometrial cancer and its clinical applications[J ] . Prog Obstet Gynecol, 2021, 30(4): 307-310, 313.

JIAN J, LI Y, PICKHARDT P J, et al . MR image-based radiomics to differentiate type Ι and type ΙΙ epithelial ovarian cancers[J ] . Eur Radiol, 2021, 31(1): 403-410. DOI: 10.1007/s00330-020-07091-2.

李娜, 马麟, 詹启敏. 迈向精准医学[J]. 中国肿瘤生物治疗杂志, 2019, 26(1): 3-6.

LI N, MA L, ZHAN Q M. Towards precision medicine[J]. Chin J Cancer Biother, 2019, 26(1): 3-6.

BECKMANN J S, LEW D. Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunities[J]. Genome Med, 2016, 8(1): 134. DOI: 10.1186/s13073-016-0388-7.

MOZAFFARIAN D, BENJAMIN E J, GO A S, et al . 2015 update: a report from the American Heart Association[J ] . Circulation, 2015, 131: e1-e294.

BARRESE V, TAGLIALATELA M. New advances in beta-blocker therapy in heart failure[J]. Front Physiol, 2013, 4: 323. DOI: 10.3389/fphys.2013.00323.

BARSHESHET A, BRENYO A, GOLDENBERG I, et al . Sex-related differences in patients' responses to heart failure therapy[J ] . Nat Rev Cardiol, 2012, 9(4): 234-242. DOI: 10.1038/nrcardio.2012.10.

HUANG J, LI C Z, SONG Y, et al . ADRB2 polymorphism Arg16Gly modifies the natural outcome of heart failure and dictates th erapeutic response to β-blockers in patients with heart failure[J ] . Cell Discov, 2018, 4: 57. DOI: 10.1038/s41421-018-0058-6.

VENTON G, COURTIER F, CHARBONNIER A, et al . Impact of gene mutations on treatment response and prognosis of acute myeloid leukemia secondary to myeloproliferative neoplasms[J ] . Am J Hematol, 2018, 93(3): 330-338. DOI: 10.1002/ajh.24973.

KHOURY M J, IADEMARCO M F, RILEY W T. Precision public health for the era of precision medicine[J]. Am J Prev Med, 2016, 50(3): 398-401. DOI: 10.1016/j.amepre.2015.08.031.

MEIJERS-HEIJBOER M, GEEL B V, PUTTEN W V. Breast cancer after prophylactic bilateral mastectomy in women with BRCA1 or BRCA2 mutation[J]. N Engl J Med, 2001, 345: 154-164.

OTTMAN R. Gene-environment interaction: definitions and study designs[J]. Prev Med, 1996, 25(6): 764-770. DOI: 10.1006/pmed.1996.0117.

HUO S, SUN L, ZONG G, et al . Genetic susceptibility, dietary cholesterol intake, and plasma cholesterol levels in a Chinese population[J ] . J Lipid Res, 2020, 61(11): 1504-1511. DOI: 10.1194/jlr.ra120001009.

LIU D J, PELOSO G M, YU H J, et al . Exome-wide association study of plasma lipids in > 300, 000 individuals[J ] . Nat Genet, 2017, 49(12): 1758-1766. DOI: 10.1038/ng.3977.

ALTMANN S W, DAVIS H R, ZHU L J, et al . Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption[J ] . Science, 2004, 303(5661): 1201-1204. DOI: 10.1126/science.1093131.

YE X W, YU Z J, LI H X, et al . Distributions of C-reactive protein and its association with metabolic syndrome in middle-aged and older Chinese people[J ] . J Am Coll Cardiol, 2007, 49(17): 1798-1805. DOI: 10.1016/j.jacc.2007.01.065.

JIN G, LV J, YANG M, et al . Genetic risk, incident gastric cancer, and healthy lifestyle: a meta-analysis of genome-wide association studies and prospective cohort study[J ] . Lancet Oncol, 2020, 21(10): 1378-1386. DOI: 10.1016/s1470-2045(20)30460-5.

YANG T, CAI B, CAO B, et al . REALizing and improving management of stable COPD in China: a multi-center, prospective, observational study to realize the current situation of COPD patients in China (REAL)-rationale, study design, and protocol[J ] . BMC Pulm Med, 2020, 20(1): 11. DOI: 10.1186/s12890-019-1000-x.

MOULIERE F, THIERRY A R. The importance of examining the proportion of circulating DNA originating from tumor, microenvironment and normal cells in colorectal cancer patients[J]. Expert Opin Biol Ther, 2012, 12(Suppl 1): S209-S215. DOI: 10.1517/14712598.2012.688023.

KHERA A V, CHAFFIN M, ARAGAM K G, et al . Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations[J ] . Nat Genet, 2018, 50(9): 1219-1224. DOI: 10.1038/s41588-018-0183-z.

周珊, 黄民, 王雪丁. 选择性5-羟色胺再摄取抑制药的药物基因组学研究现状[J]. 中国临床药理学杂志, 2018, 34(2): 188-192.

ZHOU S, HUANG M, WANG X D. Advances in pharmacogenomics of selective serotonin reuptake inhibitors[J]. Chin J Clin Pharmacol, 2018, 34(2): 188-192.

JIANG Y, SUN A H, ZHAO Y, et al . Proteomics identifies new therapeutic targets of early-stage hepatocellular carcinoma[J ] . Nature, 2019, 567(7747): 257-261. DOI: 10.1038/s41586-019-0987-8.

TIMMERMAN N, DE KLEIJN D P V, DE BORST G J, et al . Fam ily history and polygenic risk of cardiovascular disease: Independent factors associated with secondary cardiovascular events in patients undergoing carotid endarterectomy[J ] . Atherosclerosis, 2020, 307: 121-129. DOI: 10.1016/j.atherosclerosis.2020.04.013.

RAMASWAMI R, BAYER R, GALEA S. Precision medicine from a public health perspective[J]. Annu Rev Public Health, 2018, 39: 153-168. DOI: 10.1146/annurev-publhealth-040617-014158.

杨瑛莹, 傅传喜. 精准公共卫生研究进展及挑战[J]. 中国公共卫生, 2021, 37(2): 371-374.

YANG Y Y, FU C X. Advances and challenges in researches on precision public health[J]. Chin J Public Heal, 2021, 37(2): 371-374.

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