메뉴 건너뛰기




Volumn 13, Issue 10, 2017, Pages

Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges

Author keywords

[No Author keywords available]

Indexed keywords

DISEASE COURSE; GENE IDENTIFICATION; GENETIC EPIDEMIOLOGY; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; HUMAN; MENDELIAN RANDOMIZATION ANALYSIS; PHENOTYPE; REVIEW; STAGING; CORONARY DISEASE; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION; GENETICS; PATHOLOGY; RISK FACTOR;

EID: 85030785935     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1006944     Document Type: Review
Times cited : (214)

References (35)
  • 1
    • 0036301480 scopus 로고    scopus 로고
    • The human genome project and its impact on psychiatry
    • 1205290
    • Cowan WM, Kopnisky KL, Hyman SE, The human genome project and its impact on psychiatry. Annu Rev Neurosci. 2002;25:1–50. doi: 10.1146/annurev.neuro.25.112701.142853 12052903
    • (2002) Annu Rev Neurosci , vol.25 , pp. 1-50
    • Cowan, W.M.1    Kopnisky, K.L.2    Hyman, S.E.3
  • 2
    • 79953694196 scopus 로고    scopus 로고
    • Genetics of complex respiratory diseases: implications for pathophysiology and pharmacology studies
    • 2123205
    • Obeidat M, Hall IP, Genetics of complex respiratory diseases: implications for pathophysiology and pharmacology studies. British journal of pharmacology. 2011;163(1):96–105. doi: 10.1111/j.1476-5381.2011.01222.x 21232051
    • (2011) British journal of pharmacology , vol.163 , Issue.1 , pp. 96-105
    • Obeidat, M.1    Hall, I.P.2
  • 3
    • 66349121862 scopus 로고    scopus 로고
    • The HapMap and genome-wide association studies in diagnosis and therapy
    • 1963058
    • Manolio TA, Collins FS, The HapMap and genome-wide association studies in diagnosis and therapy. Annual review of medicine. 2009;60:443–56. doi: 10.1146/annurev.med.60.061907.093117 19630580
    • (2009) Annual review of medicine , vol.60 , pp. 443-456
    • Manolio, T.A.1    Collins, F.S.2
  • 4
    • 85014878617 scopus 로고    scopus 로고
    • Genetic risk variants as therapeutic targets for Crohn's disease
    • 2828190
    • Gabbani T, Deiana S, Marocchi M, Annese V, Genetic risk variants as therapeutic targets for Crohn's disease. Expert opinion on therapeutic targets. 2017;21(4):381–90. doi: 10.1080/14728222.2017.1296431 28281904
    • (2017) Expert opinion on therapeutic targets , vol.21 , Issue.4 , pp. 381-390
    • Gabbani, T.1    Deiana, S.2    Marocchi, M.3    Annese, V.4
  • 5
    • 85033207707 scopus 로고    scopus 로고
    • National Human Genome Research Institute-European Bioinformatics Institute. Genome-Wide Association Studies catalog
    • National Human Genome Research Institute-European Bioinformatics Institute. Genome-Wide Association Studies catalog. http://www.ebi.ac.uk/gwas/.
  • 7
    • 85008689993 scopus 로고    scopus 로고
    • Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease
    • 2806791
    • Lee JC, Biasci D, Roberts R, Gearry RB, Mansfield JC, Ahmad T, et al. Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease. Nat Genet. 2017;49(2):262–8. doi: 10.1038/ng.3755 28067912
    • (2017) Nat Genet , vol.49 , Issue.2 , pp. 262-268
    • Lee, J.C.1    Biasci, D.2    Roberts, R.3    Gearry, R.B.4    Mansfield, J.C.5    Ahmad, T.6
  • 8
    • 0242610825 scopus 로고    scopus 로고
    • Role of folate in colon cancer development and progression
    • 1460810
    • Kim YI, Role of folate in colon cancer development and progression. J Nutr. 2003;133(11 Suppl 1):3731S–9S. 14608107
    • (2003) J Nutr , vol.133 , pp. 3731S-9731S
    • Kim, Y.I.1
  • 10
    • 0035205559 scopus 로고    scopus 로고
    • Multiple sclerosis in sibling pairs: an analysis of 250 families
    • 1172319
    • Chataway J., et al. Multiple sclerosis in sibling pairs: an analysis of 250 families. J. Neurol. Neurosurg. Psychiatry2001; 71, 757–761. doi: 10.1136/jnnp.71.6.757 11723196
    • (2001) J. Neurol. Neurosurg. Psychiatry , vol.71 , pp. 757-761
    • Chataway, J.1
  • 11
    • 0037322022 scopus 로고    scopus 로고
    • 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease?
    • 1268999
    • Davey Smith G, Ebrahim S, 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease?Int J Epidemiol. 2003;32(1):1–22. 12689998
    • (2003) Int J Epidemiol , vol.32 , Issue.1 , pp. 1-22
    • Davey Smith, G.1    Ebrahim, S.2
  • 12
    • 84906838227 scopus 로고    scopus 로고
    • Mendelian randomization: genetic anchors for causal inference in epidemiological studies
    • 2506437
    • Davey Smith G, Hemani G, Mendelian randomization: genetic anchors for causal inference in epidemiological studies. Human molecular genetics. 2014;23(R1):R89–98. doi: 10.1093/hmg/ddu328 25064373
    • (2014) Human molecular genetics , vol.23 , Issue.R1 , pp. R89-98
    • Davey Smith, G.1    Hemani, G.2
  • 13
    • 79960664419 scopus 로고    scopus 로고
    • Type II secretory phospholipase A2 and prognosis in patients with stable coronary heart disease: mendelian randomization study
    • 2179982
    • Breitling LP, Koenig W, Fischer M, Mallat Z, Hengstenberg C, Rothenbacher D, et al. Type II secretory phospholipase A2 and prognosis in patients with stable coronary heart disease: mendelian randomization study. PLoS ONE. 2011;6(7):e22318. doi: 10.1371/journal.pone.0022318 21799821
    • (2011) PLoS ONE , vol.6 , Issue.7 , pp. e22318
    • Breitling, L.P.1    Koenig, W.2    Fischer, M.3    Mallat, Z.4    Hengstenberg, C.5    Rothenbacher, D.6
  • 14
    • 40849083720 scopus 로고    scopus 로고
    • Mendelian randomization: using genes as instruments for making causal inferences in epidemiology
    • 1788623
    • Lawlor DA, Harbord RM, Sterne JA, Timpson N, Davey Smith G, Mendelian randomization: using genes as instruments for making causal inferences in epidemiology. Statistics in medicine. 2008;27(8):1133–63. doi: 10.1002/sim.3034 17886233
    • (2008) Statistics in medicine , vol.27 , Issue.8 , pp. 1133-1163
    • Lawlor, D.A.1    Harbord, R.M.2    Sterne, J.A.3    Timpson, N.4    Davey Smith, G.5
  • 15
    • 84936745507 scopus 로고    scopus 로고
    • Mendelian randomization studies: a review of the approaches used and the quality of reporting
    • 2595378
    • Boef AG, Dekkers OM, le Cessie S, Mendelian randomization studies: a review of the approaches used and the quality of reporting. Int J Epidemiol. 2015;44(2):496–511. doi: 10.1093/ije/dyv071 25953784
    • (2015) Int J Epidemiol , vol.44 , Issue.2 , pp. 496-511
    • Boef, A.G.1    Dekkers, O.M.2    le Cessie, S.3
  • 16
    • 84884973036 scopus 로고    scopus 로고
    • Efficient design for Mendelian randomization studies: subsample and 2-sample instrumental variable estimators
    • 2386376
    • Pierce BL, Burgess S, Efficient design for Mendelian randomization studies: subsample and 2-sample instrumental variable estimators. Am J Epidemiol. 2013;178(7):1177–84. doi: 10.1093/aje/kwt084 23863760
    • (2013) Am J Epidemiol , vol.178 , Issue.7 , pp. 1177-1184
    • Pierce, B.L.1    Burgess, S.2
  • 17
    • 85014708940 scopus 로고    scopus 로고
    • Genetic Association of Waist-to-Hip Ratio With Cardiometabolic Traits, Type 2 Diabetes, and Coronary Heart Disease
    • 2819625
    • Emdin CA, Khera AV, Natarajan P, Klarin D, Zekavat SM, Hsiao AJ, et al. Genetic Association of Waist-to-Hip Ratio With Cardiometabolic Traits, Type 2 Diabetes, and Coronary Heart Disease. Jama. 2017;317(6):626–34. doi: 10.1001/jama.2016.21042 28196256
    • (2017) Jama , vol.317 , Issue.6 , pp. 626-634
    • Emdin, C.A.1    Khera, A.V.2    Natarajan, P.3    Klarin, D.4    Zekavat, S.M.5    Hsiao, A.J.6
  • 18
    • 84924212419 scopus 로고    scopus 로고
    • Remnant cholesterol, low-density lipoprotein cholesterol, and blood pressure as mediators from obesity to ischemic heart disease
    • 2541105
    • Varbo A, Benn M, Davey Smith G, Timpson NJ, Tybjaerg-Hansen A, Nordestgaard BG, Remnant cholesterol, low-density lipoprotein cholesterol, and blood pressure as mediators from obesity to ischemic heart disease. Circulation research. 2015;116(4):665–73. doi: 10.1161/CIRCRESAHA.116.304846 25411050
    • (2015) Circulation research , vol.116 , Issue.4 , pp. 665-673
    • Varbo, A.1    Benn, M.2    Davey Smith, G.3    Timpson, N.J.4    Tybjaerg-Hansen, A.5    Nordestgaard, B.G.6
  • 19
    • 84908114915 scopus 로고    scopus 로고
    • Causal associations of tobacco smoking with cardiovascular risk factors: a Mendelian randomization analysis of the HUNT Study in Norway
    • 2486730
    • Asvold BO, Bjorngaard JH, Carslake D, Gabrielsen ME, Skorpen F, Davey Smith G, et al. Causal associations of tobacco smoking with cardiovascular risk factors: a Mendelian randomization analysis of the HUNT Study in Norway. International journal of epidemiology. 2014;43(5):1458–70. doi: 10.1093/ije/dyu113 24867305
    • (2014) International journal of epidemiology , vol.43 , Issue.5 , pp. 1458-1470
    • Asvold, B.O.1    Bjorngaard, J.H.2    Carslake, D.3    Gabrielsen, M.E.4    Skorpen, F.5    Davey Smith, G.6
  • 20
    • 79951990503 scopus 로고    scopus 로고
    • Association between C reactive protein and coronary heart disease: mendelian randomisation analysis based on individual participant data
    • 2132500
    • C Reactive Protein Coronary Heart Disease Genetics CollaborationWensley F, Gao P, Burgess S, Kaptoge S, Di Angelantonio E, et al. Association between C reactive protein and coronary heart disease: mendelian randomisation analysis based on individual participant data. BMJ. 2011;342:d548. doi: 10.1136/bmj.d548 21325005
    • (2011) BMJ , vol.342 , pp. d548
    • Wensley, F.1    Gao, P.2    Burgess, S.3    Kaptoge, S.4    Di Angelantonio, E.5
  • 21
    • 50949134384 scopus 로고    scopus 로고
    • Inflammation, insulin resistance, and diabetes—Mendelian randomization using CRP haplotypes points upstream
    • 1870081
    • Brunner EJ, Kivimaki M, Witte DR, Lawlor DA, Davey Smith G, Cooper JA, et al. Inflammation, insulin resistance, and diabetes—Mendelian randomization using CRP haplotypes points upstream. PLoS Med. 2008;5(8):e155. doi: 10.1371/journal.pmed.0050155 18700811
    • (2008) PLoS Med , vol.5 , Issue.8 , pp. e155
    • Brunner, E.J.1    Kivimaki, M.2    Witte, D.R.3    Lawlor, D.A.4    Davey Smith, G.5    Cooper, J.A.6
  • 23
    • 84904064886 scopus 로고    scopus 로고
    • Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data
    • 2501145
    • Holmes MV, Dale CE, Zuccolo L, Silverwood RJ, Guo Y, Ye Z, et al. Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data. Bmj. 2014;349:g4164. doi: 10.1136/bmj.g4164 25011450
    • (2014) Bmj , vol.349 , pp. g4164
    • Holmes, M.V.1    Dale, C.E.2    Zuccolo, L.3    Silverwood, R.J.4    Guo, Y.5    Ye, Z.6
  • 24
    • 85021159943 scopus 로고    scopus 로고
    • Leveraging human genetics to guide drug target discovery
    • Stitziel NO, Kathiresan S, Leveraging human genetics to guide drug target discovery. Trends in cardiovascular medicine. 2016;S1050-1738(16):30128–1.
    • (2016) Trends in cardiovascular medicine , vol.S1050-1738 , Issue.16 , pp. 30121-30128
    • Stitziel, N.O.1    Kathiresan, S.2
  • 25
    • 84999053643 scopus 로고    scopus 로고
    • Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes
    • 2795976
    • Ference BA, Robinson JG, Brook RD, Catapano AL, Chapman MJ, Neff DR, et al. Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes. N Engl J Med. 2016;375(22):2144–53. doi: 10.1056/NEJMoa1604304 27959767
    • (2016) N Engl J Med , vol.375 , Issue.22 , pp. 2144-2153
    • Ference, B.A.1    Robinson, J.G.2    Brook, R.D.3    Catapano, A.L.4    Chapman, M.J.5    Neff, D.R.6
  • 26
    • 84930650718 scopus 로고    scopus 로고
    • Mendelian randomisation applied to drug development in cardiovascular disease: a review
    • 2551507
    • Mokry LE, Ahmad O, Forgetta V, Thanassoulis G, Richards JB, Mendelian randomisation applied to drug development in cardiovascular disease: a review. Journal of medical genetics. 2015;52(2):71–9. doi: 10.1136/jmedgenet-2014-102438 25515070
    • (2015) Journal of medical genetics , vol.52 , Issue.2 , pp. 71-79
    • Mokry, L.E.1    Ahmad, O.2    Forgetta, V.3    Thanassoulis, G.4    Richards, J.B.5
  • 28
    • 85019081055 scopus 로고    scopus 로고
    • Quantifying the extent to which index event biases influence large genetic association studies
    • 2804073
    • Yaghootkar H, Bancks MP, Jones SE, McDaid A, Beaumont R, Donnelly L, et al. Quantifying the extent to which index event biases influence large genetic association studies. Human molecular genetics. 2017;26(5):1018–30. doi: 10.1093/hmg/ddw433 28040731
    • (2017) Human molecular genetics , vol.26 , Issue.5 , pp. 1018-1030
    • Yaghootkar, H.1    Bancks, M.P.2    Jones, S.E.3    McDaid, A.4    Beaumont, R.5    Donnelly, L.6
  • 29
    • 84992144057 scopus 로고    scopus 로고
    • Association of Genetic Risk for Schizophrenia With Nonparticipation Over Time in a Population-Based Cohort Study
    • 2718893
    • Martin J, Tilling K, Hubbard L, Stergiakouli E, Thapar A, Davey Smith G, et al. Association of Genetic Risk for Schizophrenia With Nonparticipation Over Time in a Population-Based Cohort Study. Am J Epidemiol. 2016;183(12):1149–58. doi: 10.1093/aje/kww009 27188935
    • (2016) Am J Epidemiol , vol.183 , Issue.12 , pp. 1149-1158
    • Martin, J.1    Tilling, K.2    Hubbard, L.3    Stergiakouli, E.4    Thapar, A.5    Davey Smith, G.6
  • 30
    • 85033201460 scopus 로고    scopus 로고
    • Disease as collider: a new case-only method to discover environmental factors in complex diseases with genetic risk estimation
    • Balazard F, Le Fur S, Bougnères P, Valleron A-J, the Isis-Diab collaborative groupDisease as collider: a new case-only method to discover environmental factors in complex diseases with genetic risk estimation. BioRxivdoi: 10.1101/1245602017
    • (2017) BioRxiv
    • Balazard, F.1    Le Fur, S.2    Bougnères, P.3    Valleron, A.-J.4
  • 32
    • 84907811279 scopus 로고    scopus 로고
    • Robustness of the linear mixed effects model to error distribution assumptions and the consequences for genome-wide association studies
    • 2515360
    • Warrington NM, Tilling K, Howe LD, Paternoster L, Pennell CE, Wu YY, et al. Robustness of the linear mixed effects model to error distribution assumptions and the consequences for genome-wide association studies. Statistical applications in genetics and molecular biology. 2014;13(5):567–87. doi: 10.1515/sagmb-2013-0066 25153607
    • (2014) Statistical applications in genetics and molecular biology , vol.13 , Issue.5 , pp. 567-587
    • Warrington, N.M.1    Tilling, K.2    Howe, L.D.3    Paternoster, L.4    Pennell, C.E.5    Wu, Y.Y.6
  • 34
    • 85013693170 scopus 로고    scopus 로고
    • When Will Mendelian Randomization Become Relevant for Clinical Practice and Public Health?
    • 2819623
    • Davey Smith G, Paternoster L, Relton C, When Will Mendelian Randomization Become Relevant for Clinical Practice and Public Health?Jama. 2017;317(6):589–91. doi: 10.1001/jama.2016.21189 28196238
    • (2017) Jama , vol.317 , Issue.6 , pp. 589-591
    • Davey Smith, G.1    Paternoster, L.2    Relton, C.3
  • 35
    • 85017142324 scopus 로고    scopus 로고
    • MR-Base: a platform for systematic causal inference across the phenome using billions of genetic associations
    • Hemani G, Zheng J, Wade K, Laurin C, Elsworth B, Burgess S, et al. MR-Base: a platform for systematic causal inference across the phenome using billions of genetic associations. BioRxivhttps://doi.org/10.1101/0789722016
    • BioRxiv
    • Hemani, G.1    Zheng, J.2    Wade, K.3    Laurin, C.4    Elsworth, B.5    Burgess, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.