메뉴 건너뛰기




Volumn 25, Issue 3, 2014, Pages 427-435

Methodological challenges in Mendelian randomization

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; GENE LINKAGE DISEQUILIBRIUM; GENETIC MARKER; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; INSTRUMENTAL VARIABLE ANALYSIS; MEASUREMENT ERROR; MENDELIAN RANDOMIZATION ANALYSIS; METHODOLOGY; OUTCOME ASSESSMENT; PRIORITY JOURNAL; SAMPLING; SENSITIVITY ANALYSIS; PROCEDURES; RANDOMIZATION; SENSITIVITY AND SPECIFICITY; STATISTICAL BIAS;

EID: 84898050170     PISSN: 10443983     EISSN: 15315487     Source Type: Journal    
DOI: 10.1097/EDE.0000000000000081     Document Type: Article
Times cited : (399)

References (43)
  • 1
    • 0022656494 scopus 로고
    • Apolipoprotein e isoforms, serum cholesterol, and cancer
    • Katan MB. Apolipoprotein E isoforms, serum cholesterol, and cancer. Lancet. 1986;1:507-508.
    • (1986) Lancet , vol.1 , pp. 507-508
    • Katan, M.B.1
  • 2
    • 0141540774 scopus 로고    scopus 로고
    • Mendelian randomisation: A new spin or real progress?
    • Little J, Khoury MJ. Mendelian randomisation: a new spin or real progress? Lancet. 2003;362:930-931.
    • (2003) Lancet , vol.362 , pp. 930-931
    • Little, J.1    Khoury, M.J.2
  • 3
    • 0037322022 scopus 로고    scopus 로고
    • 'Mendelian randomization': Can genetic epidemiology contribute to understanding environmental determinants of disease?
    • Davey Smith G, Ebrahim S. 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease? Int J Epidemiol. 2003;32:1-22.
    • (2003) Int J Epidemiol , vol.32 , pp. 1-22
    • Davey, S.G.1    Ebrahim, S.2
  • 4
    • 1942436221 scopus 로고    scopus 로고
    • Mendelian randomization: Prospects, potentials, and limitations
    • Smith GD, Ebrahim S. Mendelian randomization: prospects, potentials, and limitations. Int J Epidemiol. 2004;33:30-42.
    • (2004) Int J Epidemiol , vol.33 , pp. 30-42
    • Smith, G.D.1    Ebrahim, S.2
  • 5
    • 1942507436 scopus 로고    scopus 로고
    • Commentary: The concept of 'Mendelian Randomization'
    • Thomas DC, Conti DV. Commentary: the concept of 'Mendelian Randomization'. Int J Epidemiol. 2004;33:21-25.
    • (2004) Int J Epidemiol , vol.33 , pp. 21-25
    • Thomas, D.C.1    Conti, D.V.2
  • 6
    • 28244481060 scopus 로고    scopus 로고
    • C-reactive protein and its role in metabolic syndrome: Mendelian randomisation study
    • Timpson NJ, Lawlor DA, Harbord RM, et al. C-reactive protein and its role in metabolic syndrome: mendelian randomisation study. Lancet. 2005;366:1954-1959.
    • (2005) Lancet , vol.366 , pp. 1954-1959
    • Timpson, N.J.1    Lawlor, D.A.2    Harbord, R.M.3
  • 7
    • 21844466219 scopus 로고    scopus 로고
    • Meta- analysis of genetic studies using Mendelian randomization - A multivariate approach
    • Thompson JR, Minelli C, Abrams KR, Tobin MD, Riley RD. Meta- analysis of genetic studies using Mendelian randomization-a multivariate approach. Stat Med. 2005;24:2241-2254.
    • (2005) Stat Med , vol.24 , pp. 2241-2254
    • Thompson, J.R.1    Minelli, C.2    Abrams, K.R.3    Tobin, M.D.4    Riley, R.D.5
  • 8
    • 12344309062 scopus 로고    scopus 로고
    • Homocysteine and stroke: Evidence on a causal link from mendelian randomisation
    • Casas JP, Bautista LE, Smeeth L, Sharma P, Hingorani AD. Homocysteine and stroke: evidence on a causal link from mendelian randomisation. Lancet. 2005;365:224-232.
    • (2005) Lancet , vol.365 , pp. 224-232
    • Casas, J.P.1    Bautista, L.E.2    Smeeth, L.3    Sharma, P.4    Hingorani, A.D.5
  • 9
    • 34547682094 scopus 로고    scopus 로고
    • Mendelian randomization as an instrumental variable approach to causal inference
    • Didelez V, Sheehan N. Mendelian randomization as an instrumental variable approach to causal inference. Stat Methods Med Res. 2007;16: 309-330.
    • (2007) Stat Methods Med Res , vol.16 , pp. 309-330
    • Didelez, V.1    Sheehan, N.2
  • 10
    • 40849083720 scopus 로고    scopus 로고
    • Mendelian randomization: Using genes as instruments for making causal inferences in epidemiology
    • Lawlor DA, Harbord RM, Sterne JA, Timpson N, Davey Smith G. Mendelian randomization: using genes as instruments for making causal inferences in epidemiology. Stat Med. 2008;27:1133-1163.
    • (2008) Stat Med , vol.27 , pp. 1133-1163
    • Lawlor, D.A.1    Harbord, R.M.2    Sterne, J.A.3    Timpson, N.4    Davey Smith, G.5
  • 11
    • 53349140946 scopus 로고    scopus 로고
    • Adjusting for bias and unmeasured confounding in Mendelian randomization studies with binary responses
    • Palmer TM, Thompson JR, Tobin MD, Sheehan NA , Burton PR. Adjusting for bias and unmeasured confounding in Mendelian randomization studies with binary responses. Int J Epidemiol. 2008;37:1161-1168.
    • (2008) Int J Epidemiol , vol.37 , pp. 1161-1168
    • Palmer, T.M.1    Thompson, J.R.2    Tobin, M.D.3    Sheehan, N.A.4    Burton, P.R.5
  • 12
    • 50949134384 scopus 로고    scopus 로고
    • Inflammation, insulin resistance, and diabetes-Mendelian randomization using CRP haplotypes points upstream
    • Brunner EJ, Kivimäki M, Witte DR, et al. Inflammation, insulin resistance, and diabetes-Mendelian randomization using CRP haplotypes points upstream. PLoS Med. 2008;5:e155.
    • (2008) PLoS Med , vol.5
    • Brunner, E.J.1    Kivimäki, M.2    Witte, D.R.3
  • 13
    • 70349235444 scopus 로고    scopus 로고
    • Sex hormone binding globulin and type II diabetes
    • Ding EL, Song Y, Manson JE, et al. Sex hormone binding globulin and type II diabetes. New Engl J Med. 2009;361:1152-1163.
    • (2009) New Engl J Med. , vol.361 , pp. 1152-1163
    • Ding, E.L.1    Song, Y.2    Manson, J.E.3
  • 14
    • 79961185600 scopus 로고    scopus 로고
    • Power and instrument strength requirements for Mendelian randomization studies using multiple genetic variants
    • Pierce BL, Ahsan H, Vanderweele TJ. Power and instrument strength requirements for Mendelian randomization studies using multiple genetic variants. Int J Epidemiol. 2011;40:740-752.
    • (2011) Int J Epidemiol , vol.40 , pp. 740-752
    • Pierce, B.L.1    Ahsan, H.2    Vanderweele, T.J.3
  • 15
    • 79951693616 scopus 로고    scopus 로고
    • Mendelian randomization analysis of case- control data using structural mean models
    • Bowden J, Vansteelandt S. Mendelian randomization analysis of case- control data using structural mean models. Stat Med. 2011;30: 678-694.
    • (2011) Stat Med , vol.30 , pp. 678-694
    • Bowden, J.1    Vansteelandt, S.2
  • 16
    • 84867606063 scopus 로고    scopus 로고
    • The effect of non-differential measurement error on bias, precision and power in Mendelian randomization studies
    • Pierce BL, VanderWeele TJ. The effect of non-differential measurement error on bias, precision and power in Mendelian randomization studies. Int J Epidemiol. 2012;41:1383-1393.
    • (2012) Int J Epidemiol , vol.41 , pp. 1383-1393
    • Pierce, B.L.1    Vanderweele, T.J.2
  • 17
    • 84856718639 scopus 로고    scopus 로고
    • Credible Mendelian randomization studies: Approaches for evaluating the instrumental variable assumptions
    • Glymour MM, Tchetgen EJ, Robins JM. Credible Mendelian randomization studies: approaches for evaluating the instrumental variable assumptions. Am J Epidemiol. 2012;175:332-339.
    • (2012) Am J Epidemiol , vol.175 , pp. 332-339
    • Glymour, M.M.1    Tchetgen, E.J.2    Robins, J.M.3
  • 18
    • 84868143292 scopus 로고    scopus 로고
    • Pancreatic beta-cell function and type 2 diabetes risk: Quantify the causal effect using a Mendelian randomization approach based on meta-analyses
    • Song Y, Yeung E, Liu A, et al. Pancreatic beta-cell function and type 2 diabetes risk: quantify the causal effect using a Mendelian randomization approach based on meta-analyses. Hum Mol Genet. 2012;21: 5010-5018.
    • (2012) Hum Mol Genet , vol.21 , pp. 5010-5018
    • Song, Y.1    Yeung, E.2    Liu, A.3
  • 19
    • 84874962114 scopus 로고    scopus 로고
    • Severity of bias of a simple estimator of the causal odds ratio in Mendelian randomization studies
    • Harbord RM, Didelez V, Palmer TM, Meng S, Sterne JA, Sheehan NA . Severity of bias of a simple estimator of the causal odds ratio in Mendelian randomization studies. Stat Med. 2013;32:1246-1258.
    • (2013) Stat Med , vol.32 , pp. 1246-1258
    • Harbord, R.M.1    Didelez, V.2    Palmer, T.M.3    Meng, S.4    Sterne, J.A.5    Sheehan, N.A.6
  • 20
    • 84861413864 scopus 로고    scopus 로고
    • Genetic variants on 15q25.1, smoking, and lung cancer: An assessment of mediation and interaction
    • VanderWeele TJ, Asomaning K, Tchetgen Tchetgen EJ, et al. Genetic variants on 15q25.1, smoking, and lung cancer: an assessment of mediation and interaction. Am J Epidemiol. 2012;175:1013-1020.
    • (2012) Am J Epidemiol , vol.175 , pp. 1013-1020
    • Vanderweele, T.J.1    Asomaning, K.2    Tchetgen Tchetgen, E.J.3
  • 21
    • 0026556155 scopus 로고
    • Identifiability and exchangeability for direct and indirect effects
    • Robins JM, Greenland S. Identifiability and exchangeability for direct and indirect effects. Epidemiology. 1992;3:143-155.
    • (1992) Epidemiology , vol.3 , pp. 143-155
    • Robins, J.M.1    Greenland, S.2
  • 23
    • 79952117042 scopus 로고    scopus 로고
    • Odds ratios for mediation analysis for a dichotomous outcome
    • Vanderweele TJ, Vansteelandt S. Odds ratios for mediation analysis for a dichotomous outcome. Am J Epidemiol. 2010;172:1339-1348.
    • (2010) Am J Epidemiol , vol.172 , pp. 1339-1348
    • Vanderweele, T.J.1    Vansteelandt, S.2
  • 24
    • 56449101208 scopus 로고    scopus 로고
    • Smokers with the CHRNA lung cancer-associated variants are exposed to higher levels of nicotine equivalents and a carcinogenic tobacco-specific nitrosamine
    • Le Marchand L, Derby KS, Murphy SE, et al. Smokers with the CHRNA lung cancer-associated variants are exposed to higher levels of nicotine equivalents and a carcinogenic tobacco-specific nitrosamine. Cancer Res. 2008;68:9137-9140.
    • (2008) Cancer Res , vol.68 , pp. 9137-9140
    • Le Marchand, L.1    Derby, K.S.2    Murphy, S.E.3
  • 27
    • 84875610283 scopus 로고    scopus 로고
    • Commentary: Building an evidence base for mendelian randomization studies: Assessing the validity and strength of proposed genetic instrumental variables
    • Tchetgen Tchetgen EJ, Walter S, Glymour MM. Commentary: building an evidence base for mendelian randomization studies: assessing the validity and strength of proposed genetic instrumental variables. Int J Epidemiol. 2013;42:328-331.
    • (2013) Int J Epidemiol , vol.42 , pp. 328-331
    • Tchetgen Tchetgen, E.J.1    Walter, S.2    Glymour, M.M.3
  • 28
    • 84870531924 scopus 로고    scopus 로고
    • High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis
    • Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate; Wellcome Trust Case Control Consortium
    • Eyre S, Bowes J, Diogo D, et al; Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate; Wellcome Trust Case Control Consortium. High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet. 2012;44:1336-1340.
    • (2012) Nat Genet. , vol.44 , pp. 1336-1340
    • Eyre, S.1    Bowes, J.2    Diogo, D.3
  • 29
    • 84868337361 scopus 로고    scopus 로고
    • Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
    • Wellcome Trust Case Control Consortium; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC ) Investigators; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; Asian Genetic Epidemiology Network-Type 2 Diabetes (AGEN -T2D) Consortium; South Asian Type 2 Diabetes (SAT 2D) Consortium; DIAbetes Genetics Replication And Meta-analysis (DIAGRA M) Consortium
    • Morris AP, Voight BF, Teslovich TM, et al; Wellcome Trust Case Control Consortium; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC ) Investigators; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; Asian Genetic Epidemiology Network-Type 2 Diabetes (AGEN -T2D) Consortium; South Asian Type 2 Diabetes (SAT 2D) Consortium; DIAbetes Genetics Replication And Meta-analysis (DIAGRA M) Consortium. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet. 2012;44:981-990.
    • (2012) Nat Genet. , vol.44 , pp. 981-990
    • Morris, A.P.1    Voight, B.F.2    Teslovich, T.M.3
  • 30
    • 84865693929 scopus 로고    scopus 로고
    • Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
    • DIAbetes Genetics Replication and Meta-analysis (DIAGRA M) Consortium
    • Scott RA, Lagou V, Welch RP, et al; DIAbetes Genetics Replication and Meta-analysis (DIAGRA M) Consortium. Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet. 2012;44:991-1005.
    • (2012) Nat Genet. , vol.44 , pp. 991-1005
    • Scott, R.A.1    Lagou, V.2    Welch, R.P.3
  • 31
    • 77957947562 scopus 로고    scopus 로고
    • Hundreds of variants clustered in genomic loci and biological pathways affect human height
    • Lango Allen H, Estrada K, Lettre G, et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature. 2010;467:832-838.
    • (2010) Nature , vol.467 , pp. 832-838
    • Lango Allen, H.1    Estrada, K.2    Lettre, G.3
  • 32
    • 78049337953 scopus 로고    scopus 로고
    • Association analyses of 249796 individuals reveal 18 new loci associated with body mass index
    • MAGIC ; Procardis Consortium
    • Speliotes EK, Willer CJ, Berndt SI, et al; MAGIC ; Procardis Consortium. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet. 2010;42:937-948.
    • (2010) Nat Genet. , vol.42 , pp. 937-948
    • Speliotes, E.K.1    Willer, C.J.2    Berndt, S.I.3
  • 33
    • 79953204259 scopus 로고    scopus 로고
    • Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
    • Cardiogenics; CARDIoGRAM Consortium
    • Schunkert H, König IR, Kathiresan S, et al; Cardiogenics; CARDIoGRAM Consortium. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet. 2011;43:333-338.
    • (2011) Nat Genet. , vol.43 , pp. 333-338
    • Schunkert, H.1    König, I.R.2    Kathiresan, S.3
  • 34
    • 67249117049 scopus 로고    scopus 로고
    • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    • Hindorff LA, Sethupathy P, Junkins HA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A. 2009;106:9362-9367.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 9362-9367
    • Hindorff, L.A.1    Sethupathy, P.2    Junkins, H.A.3
  • 35
    • 84875701351 scopus 로고    scopus 로고
    • Genome-wide association studies identify four ER negative-specific breast cancer risk loci
    • Gene ENvironmental Interaction and breast CAncer (GENICA) Network; kConFab Investigators; Familial Breast Cancer Study (FBCS); Australian Breast Cancer Tissue Bank (ABCTB) Investigators, 398e1
    • Garcia-Closas M, Couch FJ, Lindstrom S, et al; Gene ENvironmental Interaction and breast CAncer (GENICA) Network; kConFab Investigators; Familial Breast Cancer Study (FBCS); Australian Breast Cancer Tissue Bank (ABCTB) Investigators. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet. 2013;45:392-398, 398e1.
    • (2013) Nat Genet. , vol.45 , pp. 392-398
    • Garcia-Closas, M.1    Couch, F.J.2    Lindstrom, S.3
  • 38
    • 78650778119 scopus 로고    scopus 로고
    • Bias formulas for sensitivity analysis of unmeasured confounding for general outcomes, treatments, and confounders
    • Vanderweele TJ, Arah OA. Bias formulas for sensitivity analysis of unmeasured confounding for general outcomes, treatments, and confounders. Epidemiology. 2011;22:42-52.
    • (2011) Epidemiology , vol.22 , pp. 42-52
    • Vanderweele, T.J.1    Arah, O.A.2
  • 39
    • 84865786006 scopus 로고    scopus 로고
    • Re "credible mendelian randomization studies: Approaches for evaluating the instrumental variable assumptions"
    • Burgess S. Re: "credible mendelian randomization studies: approaches for evaluating the instrumental variable assumptions". Am J Epidemiol. 2012;176:456-457.
    • (2012) Am J Epidemiol , vol.176 , pp. 456-457
    • Burgess, S.1
  • 40
    • 84865710187 scopus 로고    scopus 로고
    • Re "credible mendelian randomization studies: Approaches for evaluating the instrumental variable assumptions"
    • author reply 458
    • Palmer TM, Ramsahai RR, Lawlor DA, Sheehan NA , Didelez V. Re: "credible mendelian randomization studies: approaches for evaluating the instrumental variable assumptions". Am J Epidemiol. 2012;176:457-458; author reply 458.
    • (2012) Am J Epidemiol. , vol.176 , pp. 457-458
    • Palmer, T.M.1    Ramsahai, R.R.2    Lawlor, D.A.3    Sheehan, N.A.4    Didelez, V.5
  • 41
    • 67649961412 scopus 로고    scopus 로고
    • Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease
    • Elliott P, Chambers JC, Zhang W, et al. Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. JAMA. 2009;302:37-48.
    • (2009) JAMA , vol.302 , pp. 37-48
    • Elliott, P.1    Chambers, J.C.2    Zhang, W.3
  • 42
    • 84874505939 scopus 로고    scopus 로고
    • Causal relationship between obesity and vitamin D status: Bi-directional Mendelian randomization analysis of multiple cohorts
    • Genetic Investigation of Anthropometric Traits-GIANT Consortium
    • Vimaleswaran KS, Berry DJ, Lu C, et al; Genetic Investigation of Anthropometric Traits-GIANT Consortium. Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts. PLoS Med. 2013;10:e1001383.
    • (2013) PLoS Med , vol.10
    • Vimaleswaran, K.S.1    Berry, D.J.2    Lu, C.3
  • 43
    • 77957778209 scopus 로고    scopus 로고
    • Assumptions of IV methods for observational epidemiology
    • Didelez V, Meng S, Sheehan NA. Assumptions of IV methods for observational epidemiology. Statistical Science. 2010;25:22-40.
    • (2010) Statistical Science. , vol.25 , pp. 22-40
    • Didelez, V.1    Meng, S.2    Sheehan, N.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.