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孟德尔随机化分析方法在非酒精性脂肪性肝病病因探索中的应用

郭紫薇 武庆娟 叶永安 陈兰羽 吕文良

引用本文:
Citation:

孟德尔随机化分析方法在非酒精性脂肪性肝病病因探索中的应用

DOI: 10.12449/JCH240325
基金项目: 

中国中医科学院科技创新工程 (CI2021A00801);

中国中医科学院科技创新工程 (CI2021A00802)

利益冲突声明:本文不存在任何利益冲突。
作者贡献声明:郭紫薇参与选题,撰写论文;武庆娟参与检索文献,数据提取,修改论文;叶永安、陈兰羽、吕文良负责拟定写作思路,指导撰写文章并最后定稿。
详细信息
    通信作者:

    吕文良, lvwenliang@sohu.com (ORCID: 0000-0002-6866-4394)

Application of Mendelian randomization analysis in exploring the etiology of nonalcoholic fatty liver disease

Research funding: 

Science and Technology Innovation Project of the Chinese Academy of Traditional Chinese Medicine (CI2021A00801);

Science and Technology Innovation Project of the Chinese Academy of Traditional Chinese Medicine (CI2021A00802)

More Information
  • 摘要: 非酒精性脂肪性肝病(NAFLD)是以肝内脂质大量堆积为特点的肝脂质代谢异常类疾病,是目前世界范围内最常见的肝脏疾病。孟德尔随机化(MR)将基因组数据纳入传统的流行病学研究设计中,以推断暴露因素与疾病风险之间的因果关系。近年来,MR在NAFLD的病因推断研究中得到了较为广泛的应用,本文将系统总结MR在NAFLD研究中的应用进展,为认识疾病本质和科学化干预提供新思路。

     

  • [1] POWELL EE, WONG VW, RINELLA M. Non-alcoholic fatty liver disease[J]. Lancet, 2021, 397( 10290): 2212- 2224. DOI: 10.1016/S0140-6736(20)32511-3.
    [2] PATERNOSTRO R, TRAUNER M. Current treatment of non-alcoholic fatty liver disease[J]. J Intern Med, 2022, 292( 2): 190- 204. DOI: 10.1111/joim.13531.
    [3] TIAN AP, YANG YF. Diagnosis of nonalcoholic fatty liver disease: The importance of pathology[J]. J Clin Hepatol, 2023, 39( 3): 491- 497. DOI: 10.3969/j.issn.1001-5256.2023.03.002.

    田爱平, 杨永峰. 非酒精性脂肪性肝病诊断——病理的重要性[J]. 临床肝胆病杂志, 2023, 39( 3): 491- 497. DOI: 10.3969/j.issn.1001-5256.2023.03.002.
    [4] LE MH, LE DM, BAEZ TC, et al. Global incidence of non-alcoholic fatty liver disease: A systematic review and meta-analysis of 63 studies and 1,201,807 persons[J]. J Hepatol, 2023, 79( 2): 287- 295. DOI: 10.1016/j.jhep.2023.03.040.
    [5] ESLAM M, NEWSOME PN, SARIN SK, et al. A new definition for metabolic dysfunction-associated fatty liver disease: An international expert consensus statement[J]. J Hepatol, 2020, 73( 1): 202- 209. DOI: 10.1016/j.jhep.2020.03.039.
    [6] MA L, HAO AH, HU XX, et al. Association of fat mass-and obesity-associated gene(FTO)polymorphisms with susceptibility to nonalcoholic fatty liver disease[J]. J Clin Hepatol, 2022, 38( 12): 2723- 2727. DOI: 10.3969/j.issn.1001-5256.2022.12.009.

    马磊, 郝岸华, 胡欣欣, 等. 脂肪量和肥胖相关基因多态性与非酒精性脂肪性肝病易感性的关系[J]. 临床肝胆病杂志, 2022, 38( 12): 2723- 2727. DOI: 10.3969/j.issn.1001-5256.2022.12.009.
    [7] RICHMOND RC, DAVEY SMITH G. Mendelian randomization: concepts and scope[J]. Cold Spring Harb Perspect Med, 2022, 12( 1): a040501. DOI: 10.1101/cshperspect.a040501.
    [8] EMDIN CA, KHERA AV, KATHIRESAN S. Mendelian randomization[J]. JAMA, 2017, 318( 19): 1925- 1926. DOI: 10.1001/jama.2017.17219.
    [9] JONES DS, PODOLSKY SH. The history and fate of the gold standard[J]. Lancet, 2015, 385( 9977): 1502- 1503. DOI: 10.1016/S0140-6736(15)60742-5.
    [10] GAO X, XUE FZ, HUANG LH, et al. Statistical consensus on Mendelian randomization models and their normative applications[J]. Chin J Health Statistics, 2021, 38( 3): 471- 475. DOI: 10.3969/j.issn.1002-3674.2021.03.042.

    高雪, 薛付忠, 黄丽红, 等. 孟德尔随机化模型及其规范化应用的统计学共识[J]. 中国卫生统计, 2021, 38( 3): 471- 475. DOI: 10.3969/j.issn.1002-3674.2021.03.042.
    [11] HE SM, ZHANG Y, PENG LQ, et al. Research progress of propensity score and Mendelian randomization in China[J]. Chin J Dis Control Prev, 2022, 26( 3): 325- 330. DOI: 10.16462/j.cnki.zhjbkz.2022.03.014.

    和思敏, 张雨, 彭刘庆, 等. 倾向性评分与孟德尔随机化国内研究现状[J]. 中华疾病控制杂志, 2022, 26( 3): 325- 330. DOI: 10.16462/j.cnki.zhjbkz.2022.03.014.
    [12] HARPER S. A future for observational epidemiology: clarity, credibility, transparency[J]. Am J Epidemiol, 2019, 188( 5): 840- 845. DOI: 10.1093/aje/kwy280.
    [13] DAVEY SMITH G, HEMANI G. Mendelian randomization: genetic anchors for causal inference in epidemiological studies[J]. Hum Mol Genet, 2014, 23( R1): R89- R98. DOI: 10.1093/hmg/ddu328.
    [14] KATAN MB. Apolipoprotein E isoforms, serum cholesterol, and cancer[J]. Lancet, 1986, 1( 8479): 507- 508. DOI: 10.1016/s0140-6736(86)92972-7.
    [15] THOMAS DC, CONTI DV. Commentary: the concept of‘Mendelian Randomization’[J]. Int J Epidemiol, 2004, 33( 1): 21- 25. DOI: 10.1093/ije/dyh048.
    [16] YU TQ, XU WT, SU YN, et al. Mendelian randomization: the basic principles, methods and limitations[J]. Chin J Evid-based Med, 2021, 21( 10): 1227- 1234. DOI: 10.7507/1672-2531.202107008.

    于天琦, 徐文涛, 苏雅娜, 等. 孟德尔随机化研究基本原理、方法和局限性[J]. 中国循证医学杂志, 2021, 21( 10): 1227- 1234. DOI: 10.7507/1672-2531.202107008.
    [17] CHEN GQ, GU CZ, WANG QL, et al. Advances in Mendelian randomization analysis methods in schizophrenia[J]. J Int Psychiatry, 2022, 49( 3): 385- 387. DOI: 10.13479/j.cnki.jip.2022.03.046.

    陈国庆, 谷传正, 王秋玲, 等. 孟德尔随机化分析方法在精神分裂症中的应用进展[J]. 国际精神病学杂志, 2022, 49( 3): 385- 387. DOI: 10.13479/j.cnki.jip.2022.03.046.
    [18] LAURIDSEN BK, STENDER S, KRISTENSEN TS, et al. Liver fat content, non-alcoholic fatty liver disease, and ischaemic heart disease: Mendelian randomization and meta-analysis of 279,013 individuals[J]. Eur Heart J, 2018, 39( 5): 385- 393. DOI: 10.1093/eurheartj/ehx662.
    [19] PARK S, LEE S, KIM Y, et al. Causal effects from non-alcoholic fatty liver disease on kidney function: A Mendelian randomization study[J]. Liver Int, 2022, 42( 2): 412- 418. DOI: 10.1111/liv.15118.
    [20] LIU Z, SUO C, FAN H, et al. Dissecting causal relationships between nonalcoholic fatty liver disease proxied by chronically elevated alanine transaminase levels and 34 extrahepatic diseases[J]. Metabolism, 2022, 135: 155270. DOI: 10.1016/j.metabol.2022.155270.
    [21] REN Z, SIMONS P, WESSELIUS A, et al. Relationship between NAFLD and coronary artery disease: A Mendelian randomization study[J]. Hepatology, 2023, 77( 1): 230- 238. DOI: 10.1002/hep.32534.
    [22] PETERMANN-ROCHA F, GRAY SR, FORREST E, et al. Associations of muscle mass and grip strength with severe NAFLD: A prospective study of 333,295 UK Biobank participants[J]. J Hepatol, 2022, 76( 5): 1021- 1029. DOI: 10.1016/j.jhep.2022.01.010.
    [23] LIU D, GAO X, PAN XF, et al. The hepato-ovarian axis: genetic evidence for a causal association between non-alcoholic fatty liver disease and polycystic ovary syndrome[J]. BMC Med, 2023, 21( 1): 62. DOI: 10.1186/s12916-023-02775-0.
    [24] LI J, TIAN A, ZHU H, et al. Mendelian randomization analysis reveals no causal relationship between nonalcoholic fatty liver disease and severe COVID-19[J]. Clin Gastroenterol Hepatol, 2022, 20( 7): 1553- 1560. e 78. DOI: 10.1016/j.cgh.2022.01.045.
    [25] WU M, ZHA M, LV Q, et al. Non-alcoholic fatty liver disease and stroke: A Mendelian randomization study[J]. Eur J Neurol, 2022, 29( 5): 1534- 1537. DOI: 10.1111/ene.15277.
    [26] YU Y, YU Y, WANG Y, et al. Nonalcoholic fatty liver disease and type 2 diabetes: an observational and Mendelian randomization study[J]. Front Endocrinol(Lausanne), 2023, 14: 1156381. DOI: 10.3389/fendo.2023.1156381.
    [27] QIU S, CAO P, GUO Y, et al. Exploring the causality between hypothyroidism and non-alcoholic fatty liver: a mendelian randomization study[J]. Front Cell Dev Biol, 2021, 9: 643582. DOI: 10.3389/fcell.2021.643582.
    [28] NÄSLUND-KOCH C, BOJESEN SE, GLUUD LL, et al. Non-alcoholic fatty liver disease is not a causal risk factor for psoriasis: A Mendelian randomization study of 108,835 individuals[J]. Front Immunol, 2022, 13: 1022460. DOI: 10.3389/fimmu.2022.1022460.
    [29] LIU Y, XU H, ZHAO Z, et al. No evidence for a causal link between Helicobacter pylori infection and nonalcoholic fatty liver disease: A bidirectional Mendelian randomization study[J]. Front Microbiol, 2022, 13: 1018322. DOI: 10.3389/fmicb.2022.1018322.
    [30] KING SD, VELIGINTI S, BROUWERS M, et al. Genetic susceptibility to nonalcoholic fatty liver disease and risk for pancreatic cancer: mendelian randomization[J]. Cancer Epidemiol Biomarkers Prev, 2023, 32( 9): 1265- 1269. DOI: 10.1158/1055-9965.EPI-23-0453.
    [31] HARRING M, GOLABI P, PAIK JM, et al. Sarcopenia among patients with nonalcoholic fatty liver disease(nafld) is associated with advanced fibrosis[J]. Clin Gastroenterol Hepatol, 2023, 21( 11): 2876- 2888.e5. DOI: 10.1016/j.cgh.2023.02.013.
    [32] ANDERSSON DP, KERR AG, DAHLMAN I, et al. Relationship between a sedentary lifestyle and adipose insulin resistance[J]. Diabetes, 2023, 72( 3): 316- 325. DOI: 10.2337/db22-0612.
    [33] XIE J, HUANG H, LIU Z, et al. The associations between modifiable risk factors and nonalcoholic fatty liver disease: A comprehensive Mendelian randomization study[J]. Hepatology, 2023, 77( 3): 949- 964. DOI: 10.1002/hep.32728.
    [34] LI S, FU Y, LIU Y, et al. Serum uric acid levels and nonalcoholic fatty liver disease: a 2-sample bidirectional mendelian randomization study[J]. J Clin Endocrinol Metab, 2022, 107( 8): e3497, e 3503. DOI: 10.1210/clinem/dgac190.
    [35] YUAN S, LARSSON SC. Inverse association between serum 25-hydroxyvitamin D and nonalcoholic fatty liver disease[J]. Clin Gastroenterol Hepatol, 2023, 21( 2): 398- 405. e 4. DOI: 10.1016/j.cgh.2022.01.021.
    [36] CHEN J, RUAN X, SUN Y, et al. Plasma phospholipid arachidonic acid in relation to non-alcoholic fatty liver disease: Mendelian randomization study[J]. Nutrition, 2023, 106: 111910. DOI: 10.1016/j.nut.2022.111910
    [37] LI L, HUANG L, YANG A, et al. Causal relationship between complement C3, C4, and nonalcoholic fatty liver disease: bidirectional mendelian randomization analysis[J]. Phenomics, 2021, 1( 5): 211- 221. DOI: 10.1007/s43657-021-00023-0.
    [38] ZHANG Y, LIU Z, CHOUDHURY T, et al. Habitual coffee intake and risk for nonalcoholic fatty liver disease: a two-sample Mendelian randomization study[J]. Eur J Nutr, 2021, 60( 4): 1761- 1767. DOI: 10.1007/s00394-020-02369-z.
    [39] SUN Z, JI J, ZUO L, et al. Causal relationship between nonalcoholic fatty liver disease and different sleep traits: a bidirectional Mendelian randomized study[J]. Front Endocrinol(Lausanne), 2023, 14: 1159258. DOI: 10.3389/fendo.2023.1159258.
    [40] WANG X, LIU Z, LIU W. Does cannabis intake protect against non-alcoholic fatty liver disease? a two-sample mendelian randomization study[J]. Front Genet, 2020, 11: 949. DOI: 10.3389/fgene.2020.00949.
    [41] GUO Z, ZHANG T, YUN Z, et al. Assessing the causal relationships between human blood metabolites and the risk of NAFLD: A comprehensive mendelian randomization study[J]. Front Genet, 2023, 14: 1108086. DOI: 10.3389/fgene.2023.1108086.
    [42] YUAN S, CHEN J, DAN L, et al. Homocysteine, folate, and nonalcoholic fatty liver disease: a systematic review with meta-analysis and Mendelian randomization investigation[J]. Am J Clin Nutr, 2022, 116( 6): 1595- 1609. DOI: 10.1093/ajcn/nqac285.
    [43] TREMBLAY M, PERROT N, GHODSIAN N, et al. Circulating Galectin-3 levels are not associated with nonalcoholic fatty liver disease: a mendelian randomization study[J]. J Clin Endocrinol Metab, 2021, 106( 8): e3178, e 3184. DOI: 10.1210/clinem/dgab144.
    [44] KONG L, YE C, WANG Y, et al. Causal effect of lower birthweight on non-alcoholic fatty liver disease and mediating roles of insulin resistance and metabolites[J]. Liver Int, 2023, 43( 4): 829- 839. DOI: 10.1111/liv.15532.
    [45] RUAN X, CHEN J, SUN Y, et al. Depression and 24 gastrointestinal diseases: a Mendelian randomization study[J]. Transl Psychiatry, 2023, 13( 1): 146. DOI: 10.1038/s41398-023-02459-6.
    [46] TILLMANN T, VAUCHER J, OKBAY A, et al. Education and coronary heart disease: mendelian randomisation study[J]. BMJ(Clinical research ed), 2017, 358: j3542. DOI: 10.1136/bmj.j3542
    [47] LI GH, LAM SK, WONG IC, et al. Education attainment, intelligence and COVID-19: A mendelian randomization study[J]. J Clin Med, 2021, 10( 21): 4870. DOI: 10.3390/jcm10214870.
    [48] LI Z, ZHANG B, LIU Q, et al. Genetic association of lipids and lipid-lowering drug target genes with non-alcoholic fatty liver disease[J]. EBioMedicine, 2023, 90: 104543. DOI: 10.1016/j.ebiom.2023.104543.
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出版历程
  • 收稿日期:  2023-06-28
  • 录用日期:  2023-07-20
  • 出版日期:  2024-03-20
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