메뉴 건너뛰기




Volumn 33, Issue 5, 2009, Pages 406-418

Unbiased estimation of odds ratios: Combining genomewide association scans with replication studies

Author keywords

Genomewide scans; Selection bias; UMVUE; Winner's curse; WTCCC

Indexed keywords

ARTICLE; BOOTSTRAPPING; CONFIDENCE INTERVAL; CROHN DISEASE; EFFECT SIZE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; INSULIN DEPENDENT DIABETES MELLITUS; MAXIMUM LIKELIHOOD METHOD; SAMPLE SIZE; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; ALGORITHM; ALLELE; BIOLOGICAL MODEL; EPIDEMIOLOGY; GENETIC PREDISPOSITION; HUMAN; HUMAN GENOME; METHODOLOGY; REGRESSION ANALYSIS; REPRODUCIBILITY; RISK; STATISTICAL MODEL; STATISTICS;

EID: 70149111937     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.20394     Document Type: Article
Times cited : (57)

References (31)
  • 1
    • 54349104178 scopus 로고    scopus 로고
    • Unbiased estimation of selected treatment means in two-stage trials
    • Bowden J, Glimm E. 2008. Unbiased estimation of selected treatment means in two-stage trials. Biometrical J 50:515-527.
    • (2008) Biometrical J , vol.50 , pp. 515-527
    • Bowden, J.1    Glimm, E.2
  • 2
    • 34249997024 scopus 로고    scopus 로고
    • Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, Fraumeni JF, Jr, Freimer NB, Gerhard DS, Gunter C, Guttmacher AE, Guyer MS, Harris EL, Hoh J, Hoover R, Kong CA, Merikangas Kr, Morton CC, Palmer LF, Phimister EG, Rice JP, Robert J, Rotimi C, Tucker Ma, Vogan KJ, Wacholder S, Wijsman EM, Winn DM, Collins FS, NCI-NHGRI Working Group on Replication in Association Studies 2007. Replicating genotype-phenotype associations. Nature 447:655-660.
    • Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, Fraumeni JF, Jr, Freimer NB, Gerhard DS, Gunter C, Guttmacher AE, Guyer MS, Harris EL, Hoh J, Hoover R, Kong CA, Merikangas Kr, Morton CC, Palmer LF, Phimister EG, Rice JP, Robert J, Rotimi C, Tucker Ma, Vogan KJ, Wacholder S, Wijsman EM, Winn DM, Collins FS, NCI-NHGRI Working Group on Replication in Association Studies 2007. Replicating genotype-phenotype associations. Nature 447:655-660.
  • 3
    • 38249007218 scopus 로고
    • Two stage conditionally unbiased estimators of the selected mean
    • Cohen A, Sackrowitz H. 1989. Two stage conditionally unbiased estimators of the selected mean. Stat Probability Lett 8:273-278.
    • (1989) Stat Probability Lett , vol.8 , pp. 273-278
    • Cohen, A.1    Sackrowitz, H.2
  • 4
    • 0033475004 scopus 로고    scopus 로고
    • What works? Selectivity models in meta-analysis
    • Copas J. 1999. What works? Selectivity models in meta-analysis. J R Stat Soc Ser A 162:95-109.
    • (1999) J R Stat Soc Ser A , vol.162 , pp. 95-109
    • Copas, J.1
  • 5
    • 85172068615 scopus 로고    scopus 로고
    • Easton DF, Pooley KA, Dunning AM, Pharoah PDP, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R; SEARCH collaborators, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, Nordestgaard BG, Axelsson CK, Garcia-Closas M, Brinton L, Chanock S, Lissowska J, Peplonska B, Nevanlinna H, Pagerholm R, Eerola H, Kang D, Yoo KY, Noh DY, Ahn SH, Hunter DJ, Hankinson SE, Cox DG, Hall P, Wedren S, Liu J, Low YL, Bogdanova N, Schurmann P, Dork T, Tollenaar RA, Jacobi CE, Devilee P, Klijn JG, Sigurdson AJ, Doody MM, Alexander BH, Zhang J, Cox A, Brock IW, MacPherson G, Reed MW, Couch FJ, Goode EL, Olson JE, Meijers-Heijboer H, van den Puweland A, Uitterlinden A, Rivadeneira F, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Hopper JL, McCredie MM
    • Easton DF, Pooley KA, Dunning AM, Pharoah PDP, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R; SEARCH collaborators, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, Nordestgaard BG, Axelsson CK, Garcia-Closas M, Brinton L, Chanock S, Lissowska J, Peplonska B, Nevanlinna H, Pagerholm R, Eerola H, Kang D, Yoo KY, Noh DY, Ahn SH, Hunter DJ, Hankinson SE, Cox DG, Hall P, Wedren S, Liu J, Low YL, Bogdanova N, Schurmann P, Dork T, Tollenaar RA, Jacobi CE, Devilee P, Klijn JG, Sigurdson AJ, Doody MM, Alexander BH, Zhang J, Cox A, Brock IW, MacPherson G, Reed MW, Couch FJ, Goode EL, Olson JE, Meijers-Heijboer H, van den Puweland A, Uitterlinden A, Rivadeneira F, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Hopper JL, McCredie MM, Southey M, Giles GG, Schroen C, Justenhoven C, Brauch H, Hamann U, Ko YD, Spurdle AB, Beesley J, Chen X, kConFab; AOCS Management Group, Mannermaa A, Kosma VM, Kataja V, Hartikainen J, et al. 2007. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447:1087-1093.
  • 6
    • 34247386214 scopus 로고    scopus 로고
    • Upward bias in odds ratio estimates from genome-wide association studies
    • Garner C. 2007. Upward bias in odds ratio estimates from genome-wide association studies. Genet Epidemiol 31:288-295.
    • (2007) Genet Epidemiol , vol.31 , pp. 288-295
    • Garner, C.1
  • 7
    • 42749087766 scopus 로고    scopus 로고
    • Estimating odds ratios in genome scans: An approximate conditional likelihood approach
    • Ghosh A, Zou F, Wright FA. 2008. Estimating odds ratios in genome scans: an approximate conditional likelihood approach. Am J Hum Genet 82:1064-1074.
    • (2008) Am J Hum Genet , vol.82 , pp. 1064-1074
    • Ghosh, A.1    Zou, F.2    Wright, F.A.3
  • 8
    • 0035209177 scopus 로고    scopus 로고
    • Large upward bias in estimation of locus-specific effects from genome wide scans
    • Göring HHH, Terwilliger JD, Blangero J. 2001. Large upward bias in estimation of locus-specific effects from genome wide scans. Am J Hum Genet 69:1357-1369.
    • (2001) Am J Hum Genet , vol.69 , pp. 1357-1369
    • Göring, H.H.H.1    Terwilliger, J.D.2    Blangero, J.3
  • 9
    • 84972487962 scopus 로고
    • Modeling publication selection effects in meta-analysis
    • Hedges LV. 1992. Modeling publication selection effects in meta-analysis. Stat Sci 7:246-255.
    • (1992) Stat Sci , vol.7 , pp. 246-255
    • Hedges, L.V.1
  • 10
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • Hirschhorn JN, Daly MJ. 2005. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6:95-108.
    • (2005) Nat Rev Genet , vol.6 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 11
    • 0034366413 scopus 로고    scopus 로고
    • Bias in meta-analysis due to outcome variable selection within studies
    • Hutton JL, Williamson PR. 2000. Bias in meta-analysis due to outcome variable selection within studies. Appl Stat 49:359-370.
    • (2000) Appl Stat , vol.49 , pp. 359-370
    • Hutton, J.L.1    Williamson, P.R.2
  • 12
    • 41149120561 scopus 로고    scopus 로고
    • A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions
    • Janssens AC, Gwinn M, Bradley LA, Oostra BA, van Duijn CM, Khoury MJ. 2008. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet 82:593-599.
    • (2008) Am J Hum Genet , vol.82 , pp. 593-599
    • Janssens, A.C.1    Gwinn, M.2    Bradley, L.A.3    Oostra, B.A.4    van Duijn, C.M.5    Khoury, M.J.6
  • 13
    • 0037312921 scopus 로고    scopus 로고
    • Meta analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease
    • Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. 2003. Meta analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 33:177-182.
    • (2003) Nat Genet , vol.33 , pp. 177-182
    • Lohmueller, K.E.1    Pearce, C.L.2    Pike, M.3    Lander, E.S.4    Hirschhorn, J.N.5
  • 14
    • 34347338690 scopus 로고    scopus 로고
    • Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA, Fisher Sa, Roberts RG, Nimmo Er, Cummings FR, Soars D, Drummond H, Lees CW, Khawaja SA, Bagnall R, Burke DA, Todhunter CE, Ahmad T, Onnie CM, McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC, Wellcome Trust Case Control Consortium, Cardon L, Mathew CG. 2007. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Gen 39:830-832.
    • Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA, Fisher Sa, Roberts RG, Nimmo Er, Cummings FR, Soars D, Drummond H, Lees CW, Khawaja SA, Bagnall R, Burke DA, Todhunter CE, Ahmad T, Onnie CM, McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC, Wellcome Trust Case Control Consortium, Cardon L, Mathew CG. 2007. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Gen 39:830-832.
  • 15
    • 30944469129 scopus 로고    scopus 로고
    • Testing and estimation in flexible group sequential designs with adaptive treatment selection
    • Posch M, Koenig F, Branson M, Brannath W, Dunger-Baldauf C, Bauer P. 2005. Testing and estimation in flexible group sequential designs with adaptive treatment selection. Stat Med 24:3697-3714.
    • (2005) Stat Med , vol.24 , pp. 3697-3714
    • Posch, M.1    Koenig, F.2    Branson, M.3    Brannath, W.4    Dunger-Baldauf, C.5    Bauer, P.6
  • 16
    • 70349392074 scopus 로고    scopus 로고
    • Putter J, Rubinstein D. 1968. Technical report TR165: on estimating the mean of a selected population. University of Wisconsin statistics department, Wisconsin.
    • Putter J, Rubinstein D. 1968. Technical report TR165: on estimating the mean of a selected population. University of Wisconsin statistics department, Wisconsin.
  • 17
    • 22144453601 scopus 로고    scopus 로고
    • Drop-the-losers design: Normal case
    • Sampson AR, Sill MW. 2005. Drop-the-losers design: normal case. Biometrical J 47:257-268.
    • (2005) Biometrical J , vol.47 , pp. 257-268
    • Sampson, A.R.1    Sill, M.W.2
  • 18
    • 0031466983 scopus 로고    scopus 로고
    • From genotypes to genes: Doubling the sample size
    • Sasieni PD. 1997. From genotypes to genes: doubling the sample size. Biometrics 53:1253-1261.
    • (1997) Biometrics , vol.53 , pp. 1253-1261
    • Sasieni, P.D.1
  • 19
    • 4444317393 scopus 로고    scopus 로고
    • Two-stage designs for gene-disease association studies with sample size constraints
    • Satagopan JM, Venkatraman ES, Begg CB. 2004. Two-stage designs for gene-disease association studies with sample size constraints. Biometrics 60:589-597.
    • (2004) Biometrics , vol.60 , pp. 589-597
    • Satagopan, J.M.1    Venkatraman, E.S.2    Begg, C.B.3
  • 20
    • 33947600693 scopus 로고    scopus 로고
    • Extension of a two-stage conditionally unbiased estimator of the selected population to the bivariate normal case
    • Sill MW, Sampson AR. 2007. Extension of a two-stage conditionally unbiased estimator of the selected population to the bivariate normal case. Commun Stat Theory Methods 36:801-813.
    • (2007) Commun Stat Theory Methods , vol.36 , pp. 801-813
    • Sill, M.W.1    Sampson, A.R.2
  • 21
    • 0037445466 scopus 로고    scopus 로고
    • Sequential designs for phase III clinical trials incorporating treatment selection
    • Stallard N, Todd S. 2003. Sequential designs for phase III clinical trials incorporating treatment selection. Stat Med 22:689-703.
    • (2003) Stat Med , vol.22 , pp. 689-703
    • Stallard, N.1    Todd, S.2
  • 22
    • 39449090973 scopus 로고    scopus 로고
    • Estimation following selection of the largest of two normal means
    • Stallard N, Todd S, Whitehead J. 2008. Estimation following selection of the largest of two normal means. J Stat Plann Inference 138:1629-1638.
    • (2008) J Stat Plann Inference , vol.138 , pp. 1629-1638
    • Stallard, N.1    Todd, S.2    Whitehead, J.3
  • 23
    • 17644422198 scopus 로고    scopus 로고
    • Reduction of selection bias in genomewide studies by resampling
    • Sun L, Bull SB. 2005. Reduction of selection bias in genomewide studies by resampling. Genet Epidemiol 28:352-367.
    • (2005) Genet Epidemiol , vol.28 , pp. 352-367
    • Sun, L.1    Bull, S.B.2
  • 24
    • 0001520893 scopus 로고
    • Anomalies: The winner's curse
    • Thaler R. 1988. Anomalies: the winner's curse. J Econ Perspect 2:191-202.
    • (1988) J Econ Perspect , vol.2 , pp. 191-202
    • Thaler, R.1
  • 25
    • 0000466114 scopus 로고
    • Two-stage selection and testing designs for comparative clinical trials
    • Thall PJ, Simon R, Ellenberg SS. 1988. Two-stage selection and testing designs for comparative clinical trials. Biometrika 75:303-310.
    • (1988) Biometrika , vol.75 , pp. 303-310
    • Thall, P.J.1    Simon, R.2    Ellenberg, S.S.3
  • 26
    • 34347341846 scopus 로고    scopus 로고
    • Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, Lowe CE, Szesko JS, Hafler JP, Zeitels L, Yang JH, Vella A, Nutland S, Stevents HE, Schuilenburg H, Coleman G, Maisuria M, MeadowsW, Smink LJ, Healy B, Burren OS, Lam AA, Ovington NR, Allen J, Adlem E, Leung HT, Wallace C, Howson JM, Guja C, Ionescu-Tirgoviste C; Genetics of Type 1 Diabetes in Finland, Simmonds MJ, Heward JM, Gough SC; Wellcome Trust Case Control Consortium, Dunger DB, Wicker LS, Clatyton DG. 2007. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 39:857-864.
    • Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, Lowe CE, Szesko JS, Hafler JP, Zeitels L, Yang JH, Vella A, Nutland S, Stevents HE, Schuilenburg H, Coleman G, Maisuria M, MeadowsW, Smink LJ, Healy B, Burren OS, Lam AA, Ovington NR, Allen J, Adlem E, Leung HT, Wallace C, Howson JM, Guja C, Ionescu-Tirgoviste C; Genetics of Type 1 Diabetes in Finland, Simmonds MJ, Heward JM, Gough SC; Wellcome Trust Case Control Consortium, Dunger DB, Wicker LS, Clatyton DG. 2007. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 39:857-864.
  • 28
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    • Wellcome Trust Case Control Consortium
    • Wellcome Trust Case Control Consortium. 2007. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007:661-678.
    • (2007) Nature 2007 , pp. 661-678
  • 30
    • 52449107055 scopus 로고    scopus 로고
    • Bias-reduced estimators and confidence intervals for odds ratios in genome-wide association studies
    • Zhong H, Prentice RL. 2008. Bias-reduced estimators and confidence intervals for odds ratios in genome-wide association studies. Biostatistics 9:621-634.
    • (2008) Biostatistics , vol.9 , pp. 621-634
    • Zhong, H.1    Prentice, R.L.2
  • 31
    • 34147119077 scopus 로고    scopus 로고
    • Overcoming the winner's curse: Estimating penetrance parameters from case-control data
    • Zöllner S, Pritchard JK. 2007. Overcoming the winner's curse: estimating penetrance parameters from case-control data. Am J Hum Genet 80:605-615.
    • (2007) Am J Hum Genet , vol.80 , pp. 605-615
    • Zöllner, S.1    Pritchard, J.K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.