1.深圳爱湾医学检验实验室 深圳市罕见病代谢组学精准医学工程研究中心,广东 深圳 518000
2.长江大学 物理与光电工程学院,湖北 荆州 434023
杨琴,博士,副教授,研究方向:化学计量学及其在疾病检测和机理分析中的应用研究,E-mail:yangqin00055@hnu.edu.cn
姜盼盼,硕士,助理研究员,研究方向:化学计量学以及多组学数据分析在疾病检测中的应用研究,E-mail:jiangpanpan@aonebio.com.cn
收稿:2025-02-12,
修回:2025-03-29,
网络出版:2025-09-11,
纸质出版:2025-12-15
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鲁艳,肖雯,惠羽凡,杨琴,吴莉萍,杨江涛,姜盼盼.化学计量学在罕见病与常见复杂疾病代谢组学研究中的应用[J].分析测试学报,2025,44(12):2629-2640.
LU Yan,XIAO Wen,HUI Yu-fan,YANG Qin,WU Li-ping,YANG Jiang-tao,JIANG Pan-pan.Application of Chemometric Techniques in Metabolomic Research on Rare and Common Complex Diseases[J].Journal of Instrumental Analysis,2025,44(12):2629-2640.
鲁艳,肖雯,惠羽凡,杨琴,吴莉萍,杨江涛,姜盼盼.化学计量学在罕见病与常见复杂疾病代谢组学研究中的应用[J].分析测试学报,2025,44(12):2629-2640. DOI: 10.12452/j.fxcsxb.25021284.
LU Yan,XIAO Wen,HUI Yu-fan,YANG Qin,WU Li-ping,YANG Jiang-tao,JIANG Pan-pan.Application of Chemometric Techniques in Metabolomic Research on Rare and Common Complex Diseases[J].Journal of Instrumental Analysis,2025,44(12):2629-2640. DOI: 10.12452/j.fxcsxb.25021284.
罕见病和常见复杂疾病的研究至关重要,这些疾病影响着大量患者的生活质量,且往往面临诊断难度和治疗方案的局限性。罕见疾病通常由于其低发病率和复杂的遗传基础,使得早期诊断和有效治疗变得更加困难。而常见复杂疾病因其多因素致病特性,导致预防、诊断和治疗面临挑战。组学技术,尤其是代谢组学,提供了对生物系统中代谢物的全面评估,能够揭示疾病进展、筛选潜在生物标志物并提供病理生理学的深刻见解。为了解释组学分析所生成的庞大数据,化学计量学作为一个跨学科领域,结合了计算机科学、数学和统计学,展现出强大的数据处理能力。该文综述了化学计量学在罕见疾病和常见复杂疾病组学研究中的应用,重点分析其在生物标志物筛选、疾病诊断和个性化治疗中的重要性,并探讨了机器学习在数据分析中的角色。总体而言,化学计量学为深入理解疾病机制和推动医疗创新提供了重要支持。
Research on rare diseases and common complex diseases is crucial,as these conditions significantly impact the quality of life for many patients and often present challenges in diagnosis and treatment. Rare diseases are typically more challenging for early diagnosis and effective treatment due to their low incidence rates and complex genetic basis. Common complex diseases,characterized by multifactorial etiologies,pose significant challenges for prevention,diagnosis,and treatment. Omics technologies,particularly metabolomics,offer a comprehensive assessment of metabolites within biological systems,revealing disease progression,screening potential biomarkers,and providing profound insights into pathophysiology. To interpret the vast data generated by omics analyses,chemometrics,an interdisciplinary field combining computer science,mathematics,and statistics,demonstrates powerful data processing capabilities. This review discusses the application of chemometrics in the omics research of rare and common complex diseases,highlighting its significance in biomarker discovery,disease diagnosis,and personalized treatment,while also exploring the role of machine learning in data analysis. Overall,chemometrics provides essential support for a deeper understanding of disease mechanisms and the advancement of medical innovation.
Kowalski B R . J. Chem. Inf. Comput. Sci. , 1975 , 15 ( 4 ): 201 - 203 .
Stanimirova I , Daszykowski M , Hopke P K . TrAC , Trends Anal . Chem. , 2024 , 173 : 117642 .
Paul A , Harrington P B . TrAC,Trends Anal. Chem. , 2021 , 135 : 116165 .
Wold S . Chemom. Intell. Lab. Syst. , 1995 , 30 ( 1 ): 109 - 115 .
Xiong X , Zhu Q , Zhou Z , Qian X , Hong R , Dai Y , Hu C . Clin. Radiol. , 2023 , 78 ( 11 ): e839 - e846 .
Dumas M E . Mol. Biosyst. , 2012 , 8 ( 10 ): 2494 - 2502 .
Frédérich M , Pirotte B , Fillet M , de Tullio P . J. Med. Chem. , 2016 , 59 ( 19 ): 8649 - 8666 .
Tebani A , Abily-Donval L , Afonso C , Marret S , Bekri S . Int. J. Mol. Sci. , 2016 , 17 ( 7 ): 1167 .
Bracewell-Milnes T , Saso S , Abdalla H , Nikolau D , Norman-Taylor J , Johnson M , Holmes E , Thum M Y . Hum . Reprod. Update , 2017 , 23 ( 6 ): 723 - 736 .
Puthongkham P , Wirojsaengthong S , Suea-Ngam A . Analyst , 2021 , 146 ( 21 ): 6351 - 6364 .
Fisher R A . Ann. Eugen. , 1936 , 7 ( 2 ): 179 - 188 .
Boulesteix A L . Stat. Appl. Genet. Mol. Biol. , 2004 , 3 ( 1 ): 1 - 30 .
Zhang L , Zhou W D . Inform. Sci. , 2016 , 343/344 : 79 - 93 .
Booker N K , Knights P , Gates J D , Clegg R E . Eng. Fail. Anal. , 2022 , 132 : 105937 .
Schieppati A , Henter J I , Daina E , Aperia A . Lancet (London,England) , 2008 , 371 ( 9629 ): 2039 - 2041 .
Schaefer J , Lehne M , Schepers J , Prasser F , Thun S . Orphanet J . Rare Dis. , 2020 , 15 ( 1 ): 145 .
Ni X , Shi T . Sci . China Life Sci. , 2017 , 60 ( 7 ): 681 - 685 .
Brereton R G , Jansen J , Lopes J , Marini F , Pomerantsev A , Rodionova O , Roger J M , Walczak B , Tauler R . Anal. Bioanal. Chem. , 2018 , 410 ( 26 ): 6691 - 6704 .
Mak C M , Lee H C , Chan A Y , Lam C W . Crit. Rev. Clin. Lab. Sci. , 2013 , 50 ( 6 ): 142 - 162 .
Blekherman G , Laubenbacher R , Cortes D F , Mendes P , Torti F M , Akman S , Torti S V , Shulaev V . Metabolomics , 2011 , 7 ( 3 ): 329 - 343 .
Moreda-Piñeiro J , Cocho J A , Couce M L , Moreda-Pineiro A , Bermejo-Barrera P . Metallomics , 2021 , 13 ( 5 ): mfab020 .
Zaunseder E , Mutze U , Garbade S F , Haupt S , Feyh P , Hoffmann G F , Heuveline V , Kolker S . Metabolites , 2023 , 13 ( 2 ): 304 .
Liu H , Zhu J , Li Q , Wang D , Wan K , Yuan Z , Zhang J , Zou L , He X , Miao J . Funct. Integr. Genomics , 2021 , 21 ( 5/6 ): 645 - 653 .
Kalivodová A , Hron K , Filzmoser P , Najdekr L , Janečková H , Adam T . J. Chemom. , 2015 , 29 ( 1 ): 21 - 28 .
Wang B , Liu G , Fei Q , Zuo Y , Ren Y . Spectrochim. Acta A , 2009 , 71 ( 5 ): 1695 - 1700 .
Weerd J C V , Wegberg A , Boer T S , Engelke U F H , Coene K L M , Wevers R A , Bakker S J L , Blaauw P , Groen J , Spronsen F J V , Heiner-Fokkema M R . Metabolites , 2024 , 14 ( 9 ): 479 .
Yang Q , Lin S S , Yang J T , Tang L J , Yu R Q . Talanta , 2017 , 165 : 545 - 552 .
Chen N , Chen S , Zhang Q , Wang S R , Tang L J , Jiang J H , Yu R Q , Zhou Y P . Microchem. J. , 2023 , 190 : 108600 .
Yang Q , Tan L , Wu B Q , Tian G L , Xu L , Yang J T , Jiang J H , Yu R Q . Chemom. Intell. Lab. Syst. , 2020 , 204 : 104107 .
Zhu Z X , Genchev G Z , Wang Y M , Ji W , Ren Y Y , Tian G L , Sriswasdi S , Lu H . World J . Pediatr. , 2024 , 20 ( 10 ): 1090 - 1101 .
Yang Q , Tian G L , Qin J W , Wu B Q , Tan L , Xu L , Wu S Z , Yang J T , Jiang J H , Yu R Q . Talanta , 2020 , 219 : 121370 .
Yang Q , Shi B H , Tian G L , Niu Q Q , Tang J , Linghu D D , He H Q , Wu B Q , Yang J T , Xu L , Yu R Q . Microchem. J. , 2021 , 168 : 106350 .
Xiao W , Niu Q Q , Sun Z Y , Xiong J , Yang Q , Wu B Q , Xu L , Yang Y L , Yu R Q . Microchem. J. , 2022 , 181 : 107754 .
Trygg J . J. Chemom. , 2002 , 16 ( 6 ): 283 - 293 .
Löfstedt T , Trygg J . J. Chemom. , 2011 , 25 ( 8 ): 441 - 455 .
Löfstedt T , Hoffman D , Trygg J . Anal. Chim. Acta , 2013 , 791 : 13 - 24 .
Singh A , Shannon C P , Gautier B , Rohart F , Vacher M , Tebbutt S J , Le Cao K A . Bioinformatics , 2019 , 35 ( 17 ): 3055 - 3062 .
Li Z Y , Liu X Y , Xiao W , Yang J T , Jiang P P , Wu B Q , Liu X J , Xue M , Lv H J , Zhou S H , Yang Q , Xu L , Yang Y L . Microchem. J. , 2024 , 207 : 112018 .
Usha Rani G , Kadali S , Kurma Reddy B , Shaheena D , Naushad S M . Metabolomics , 2023 , 19 ( 5 ): 49 .
Leal-Witt M J , Rojas-Agurto E , Munoz-Gonzalez M , Penaloza F , Arias C , Fuenzalida K , Bunout D , Cornejo V , Acevedo A . Metabolites , 2023 , 13 ( 6 ): 677 .
Li H , Gao S , Wu D , Zhu M , Hu Z , Fang K , Chen X , Ni Z , Li J , Zhao B , She X , Huang X . Int. J. Med. Inf. , 2025 , 195 : 105765 .
Groen J , de Haan B M , Overduin R J , Haijer-Schreuder A B , Derks T G J , Heiner-Fokkema M R . Orphanet J . Rare Dis. , 2025 , 20 ( 1 ): 15 .
Messa G M , Napolitano F , Elsea S H , di Bernardo D , Gao X . Bioinformatics , 2020 , 36 ( S2 ): i787 - i794 .
Davidson A , Diamond B . N . Engl . J. Med. , 2001 , 345 ( 5 ): 340 - 350 .
Cooper G S , Stroehla B C . Autoimmun. Rev. , 2003 , 2 ( 3 ): 119 - 125 .
Fugger L , Jensen L T , Rossjohn J . Cell , 2020 , 181 ( 1 ): 63 - 80 .
Xiong W , Yeo T , May J T M , Demmers T , Ceronie B , Ramesh A , McGinty R N , Michael S , Torzillo E , Sen A , Anthony D C , Irani S R , Probert F . Ann. Clin. Transl. Neurol. , 2024 , 11 ( 7 ): 1897 - 1908 .
Guo J , Dong R , Zhang R , Yang F , Wang Y , Miao W . J. Affect. Disord. , 2025 , 369 : 352 - 363 .
Zhang Y , Shi X , Fan Z , Tu E , Wu D , Leng X , Wan T , Wang X , Wang X , Lu W , Du F , Jiang W . J . Psychosom. Res. , 2025 , 190 : 112051 .
Mekki A , Dercle L , Lichtenstein P , Nasser G , Marabelle A , Champiat S , Chouzenoux E , Balleyguier C , Ammari S . Eur. J. Cancer , 2019 , 119 : 44 - 56 .
Thomson G , Esposito M S . Trends Genet. , 1999 , 15 ( 12 ): M17 - M20 .
Schork N J . Am . J. Respir. Crit. Care Med. , 1997 , 156 ( 4 ): S103 - S109 .
Peerapen P , Thongboonkerd V . Adv. Nutr. , 2023 , 14 ( 3 ): 555 - 569 .
Moe O W , Pearle M S , Sakhaee K . Kidney Int. , 2011 , 79 ( 4 ): 385 - 392 .
Jr. Scales C D , Tasian G E , Schwaderer A L , Goldfarb D S , Star R A , Kirkali Z . Clin . J. Am. Soc. Nephrol. , 2016 , 11 ( 7 ): 1305 - 1312 .
Yang J , Zhang D , Lu Y , Mai H , Wu S , Yang Q , Zheng H , Yu R , Luo H , Jiang P , Wu L , Zhong C , Zheng C , Yang Y , Cui J , Lei Q , He Z . Kidney Blood Press . Res. , 2024 , 50 ( 1 ): 83 - 96 .
Gao S , Yang R , Peng Z , Lu H , Li N , Ding J , Cui X , Chen W , Dong X . Sci. Rep. , 2016 , 6 : 30142 .
Thongprayoon C , Vuckovic I , Vaughan L E , Macura S , Larson N B , D'Costa M R , Lieske J C , Rule A D , Denic A . J. Am. Soc. Nephrol. , 2022 , 33 ( 11 ): 2071 - 2086 .
Gorrochategui E , Jaumot J , Lacorte S , Tauler R . TrAC , Trends Anal . Chem. , 2016 , 82 : 425 - 442 .
Zhang X Z , Lei X X , Jiang Y L , Zhao L M , Zou C Y , Bai Y J , Li Y X , Wang R , Li Q J , Chen Q Z , Fan M H , Song Y T , Zhang W Q , Zhang Y , Li L J , Xie H Q . Signal Transduction Targeted Ther. , 2023 , 8 ( 1 ): 41 .
Kazemi Y , Mirroshandel S A . Artif. Intell. Med. , 2018 , 84 : 117 - 126 .
Gulhane M , Kumar S , Choudhary S , Rakesh N , Zhu Y , Kaur M , Tandon C , Gadekallu T R . SLAS Technol. , 2024 , 29 ( 4 ): 100159 .
Mahajan P , Uddin S , Hajati F , Moni M A . Healthcare , 2023 , 11 ( 12 ): 1808 .
Krawczyk B , Minku L L , Gama J , Stefanowski J , Woźniak M . Inform. Fusion , 2017 , 37 : 132 - 156 .
Cobelli C . J. Phys. Conf. Ser. , 2010 , 238 ( 1 ): 012003 .
Forouhi N G , Wareham N J . Medicine (Baltimore) , 2014 , 42 ( 12 ): 698 - 702 .
Madsen R , Lundstedt T , Trygg J . Anal. Chim. Acta , 2010 , 659 ( 1/2 ): 23 - 33 .
Furman A E F , Cobre A D F , Stremel D P , Pontarolo R . Chemom. Intell. Lab. Syst. , 2024 , 252 : 105179 .
Al-Akl N S , Khalifa O , Ponirakis G , Parray A , Ramadan M , Khan S , Chandran M , Ayadathil R , Elsotouhy A , Own A , Al Hamad H , Decock J , Alajez N M , Albagha O , Malik R A , El-Agnaf O M A , Arredouani A . Int. J. Mol. Sci. , 2024 , 25 ( 4 ): 2247 .
Bagherzadeh-Khiabani F , Ramezankhani A , Azizi F , Hadaegh F , Steyerberg E W , Khalili D . J. Clin. Epidemiol. , 2016 , 71 : 76 - 85 .
Ahmed U , Issa G F , Khan M A , Aftab S , Khan M F , Said R A T , Ghazal T M , Ahmad M . IEEE Access , 2022 , 10 : 8529 - 8538 .
Polat K , Güneş S , Arslan A . Expert Syst. Appl. , 2008 , 34 ( 1 ): 482 - 487 .
Smith G D , Ebrahim S . Int. J. Epidemiol. , 2003 , 32 ( 1 ): 1 - 22 .
Carrasco-Zanini J , Pietzner M , Wheeler E , Kerrison N D , Langenberg C , Wareham N J . Diabetologia , 2024 , 67 ( 1 ): 102 - 112 .
Dudukcu H V , Taskiran M , Yildirim T . Biocybern. Biomed. Eng. , 2021 , 41 ( 3 ): 1208 - 1223 .
Alhassan Z , McGough A S , Alshammari R , Daghstani T , Budgen D , Al Moubayed N . Artificial Neural Networks and Machine Learning-ICANN 2018 , 2018 , 11141 : 468 - 478 .
Nilashi M , Abumalloh R A , Alyami S , Alghamdi A , Alrizq M . Diagnostics , 2023 , 13 ( 10 ): 1821 .
Beleites C , Salzer R . Anal. Bioanal. Chem. , 2008 , 390 ( 5 ): 1261 - 1271 .
Banerjee J , Taroni J N , Allaway R J , Prasad D V , Guinney J , Greene C . Nat. Meth. , 2023 , 20 ( 6 ): 803 - 814 .
Singh K , Malhotra D . Arch. Comput. Methods Eng. , 2023 , 30 ( 7 ): 4081 - 4112 .
Mi X , Zou B , Zou F , Hu J . Nat. Commun. , 2021 , 12 ( 1 ): 3008 .
Lundberg S M , Nair B , Vavilala M S , Horibe M , Eisses M J , Adams T , Liston D E , Low D K W , Newman S F , Kim J , Lee S I . Nat. Biomed. Eng. , 2018 , 2 ( 10 ): 749 - 760 .
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