메뉴 건너뛰기




Volumn 37, Issue 4, 2013, Pages 559-567

Challenges in reproducibility of genetic association studies: Lessons learned from the obesity field

Author keywords

false positive association; genetic epidemiology; guidelines; replication

Indexed keywords

GENE REPLICATION; GENETIC ASSOCIATION; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; OBESITY; PHENOTYPE; PRIORITY JOURNAL; QUALITY CONTROL; REVIEW; SAMPLE SIZE; STATISTICAL ANALYSIS;

EID: 84876176442     PISSN: 03070565     EISSN: 14765497     Source Type: Journal    
DOI: 10.1038/ijo.2012.82     Document Type: Review
Times cited : (54)

References (108)
  • 1
    • 79951558318 scopus 로고    scopus 로고
    • National regional and global trends in body-mass index since 1980: Systematic analysis of health examination surveys and epidemiological studies with 960 country-years and 9.1 million participants
    • Finucane MM, Stevens GA, Cowan MJ, Danaei G, Lin JK, Paciorek CJ et al. National, regional, and global trends in body-mass index since 1980: systematic analysis of health examination surveys and epidemiological studies with 960 country-years and 9.1 million participants. Lancet 2011; 377: 557-567.
    • (2011) Lancet , vol.377 , pp. 557-567
    • Finucane, M.M.1    Stevens, G.A.2    Cowan, M.J.3    Danaei, G.4    Lin, J.K.5    Paciorek, C.J.6
  • 2
    • 38949187953 scopus 로고    scopus 로고
    • Evidence for a strong genetic influence on childhood adiposity despite the force of the obesogenic environment
    • Wardle J, Carnell S, Haworth CM, Plomin R. Evidence for a strong genetic influence on childhood adiposity despite the force of the obesogenic environment. Am J Clin Nutr 2008; 87: 398-404.
    • (2008) Am J Clin Nutr , vol.87 , pp. 398-404
    • Wardle, J.1    Carnell, S.2    Haworth, C.M.3    Plomin, R.4
  • 5
    • 25144501575 scopus 로고    scopus 로고
    • Genetic association studies
    • Cordell HJ, Clayton DG. Genetic association studies. Lancet 2005; 366: 1121-1131.
    • (2005) Lancet , vol.366 , pp. 1121-1131
    • Cordell, H.J.1    Clayton, D.G.2
  • 6
    • 58149163142 scopus 로고    scopus 로고
    • Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
    • Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 2009; 41: 25-34.
    • (2009) Nat Genet , vol.41 , pp. 25-34
    • Willer, C.J.1    Speliotes, E.K.2    Loos, R.J.3    Li, S.4    Lindgren, C.M.5    Heid, I.M.6
  • 7
    • 79956274938 scopus 로고    scopus 로고
    • Molecular basis of obesity: Current status and future prospects
    • Choquet H, Meyre D. Molecular basis of obesity: current status and future prospects. Curr Genomics 2011; 12: 154-168.
    • (2011) Curr Genomics , vol.12 , pp. 154-168
    • Choquet, H.1    Meyre, D.2
  • 9
    • 40849097776 scopus 로고    scopus 로고
    • Heritability in the genomics era-concepts and misconceptions
    • Visscher PM, Hill WG, Wray NR. Heritability in the genomics era-concepts and misconceptions. Nat Rev Genet 2008; 9: 255-266.
    • (2008) Nat Rev Genet , vol.9 , pp. 255-266
    • Visscher, P.M.1    Hill, W.G.2    Wray, N.R.3
  • 10
    • 24644460685 scopus 로고    scopus 로고
    • Key concepts in genetic epidemiology
    • Burton PR, Tobin MD, Hopper JL. Key concepts in genetic epidemiology. Lancet 2005; 366: 941-951.
    • (2005) Lancet , vol.366 , pp. 941-951
    • Burton, P.R.1    Tobin, M.D.2    Hopper, J.L.3
  • 11
    • 46249128314 scopus 로고    scopus 로고
    • Childhood obesity: Genetic and environmental overlap with normal-range BMI
    • Haworth CM, Plomin R, Carnell S, Wardle J. Childhood obesity: genetic and environmental overlap with normal-range BMI. Obesity 2008; 16: 1585-1590.
    • (2008) Obesity , vol.16 , pp. 1585-1590
    • Haworth, C.M.1    Plomin, R.2    Carnell, S.3    Wardle, J.4
  • 12
    • 77954142147 scopus 로고    scopus 로고
    • Genetic epidemiology of BMI and body mass change from adolescence to young adulthood
    • North KE, Graff M, Adair LS, Lange EM, Lange LA, Guo G et al. Genetic epidemiology of BMI and body mass change from adolescence to young adulthood. Obesity 2010; 18: 1474-1476.
    • (2010) Obesity , vol.18 , pp. 1474-1476
    • North, K.E.1    Graff, M.2    Adair, L.S.3    Lange, E.M.4    Lange, L.A.5    Guo, G.6
  • 13
    • 33645075488 scopus 로고    scopus 로고
    • Total and regional fat distribution is strongly influenced by genetic factors in young and elderly twins
    • Malis C, Rasmussen EL, Poulsen P, Petersen I, Christensen K, Beck-Nielsen H et al. Total and regional fat distribution is strongly influenced by genetic factors in young and elderly twins. Obes Res 2005; 13: 2139-2145.
    • (2005) Obes Res , vol.13 , pp. 2139-2145
    • Malis, C.1    Rasmussen, E.L.2    Poulsen, P.3    Petersen, I.4    Christensen, K.5    Beck-Nielsen, H.6
  • 17
    • 34547839796 scopus 로고    scopus 로고
    • Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: The two facets of a Janus obesity gene
    • Stutzmann F, Vatin V, Cauchi S, Morandi A, Jouret B, Landt O et al. Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene. Hum Mol Genet 2007; 16: 1837-1844.
    • (2007) Hum Mol Genet , vol.16 , pp. 1837-1844
    • Stutzmann, F.1    Vatin, V.2    Cauchi, S.3    Morandi, A.4    Jouret, B.5    Landt, O.6
  • 19
    • 59149097625 scopus 로고    scopus 로고
    • Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations
    • Meyre D, Delplanque J, Chevre JC, Lecoeur C, Lobbens S, Gallina S et al. Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. Nat Genet 2009; 41: 157-159.
    • (2009) Nat Genet , vol.41 , pp. 157-159
    • Meyre, D.1    Delplanque, J.2    Chevre, J.C.3    Lecoeur, C.4    Lobbens, S.5    Gallina, S.6
  • 20
    • 77952405825 scopus 로고    scopus 로고
    • Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups
    • Scherag A, Dina C, Hinney A, Vatin V, Scherag S, Vogel CI et al. Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. PLoS Genet 2010; 6: e1000916.
    • (2010) PLoS Genet , vol.6
    • Scherag, A.1    Dina, C.2    Hinney, A.3    Vatin, V.4    Scherag, S.5    Vogel, C.I.6
  • 24
    • 33645825830 scopus 로고    scopus 로고
    • A common genetic variant is associated with adult and childhood obesity
    • Herbert A, Gerry NP, McQueen MB, Heid IM, Pfeufer A, Illig T et al. A common genetic variant is associated with adult and childhood obesity. Science 2006; 312: 279-283.
    • (2006) Science , vol.312 , pp. 279-283
    • Herbert, A.1    Gerry, N.P.2    McQueen, M.B.3    Heid, I.M.4    Pfeufer, A.5    Illig, T.6
  • 25
    • 33846903056 scopus 로고    scopus 로고
    • Comment on 'A common genetic variant is associated with adult and childhood obesity'
    • author reply 187
    • Dina C, Meyre D, Samson C, Tichet J, Marre M, Jouret B et al. Comment on 'A common genetic variant is associated with adult and childhood obesity'. Science 2007; 315: 187 author reply 187.
    • (2007) Science , vol.315 , pp. 187
    • Dina, C.1    Meyre, D.2    Samson, C.3    Tichet, J.4    Marre, M.5    Jouret, B.6
  • 26
    • 33846903056 scopus 로고    scopus 로고
    • Comment on 'A common genetic variant is associated with adult and childhood obesity'
    • author reply 187
    • Loos RJ, Barroso I, O'Rahilly S, Wareham NJ. Comment on 'A common genetic variant is associated with adult and childhood obesity'. Science 2007; 315: 187 author reply 187.
    • (2007) Science , vol.315 , pp. 187
    • Loos, R.J.1    Barroso, I.2    O'Rahilly, S.3    Wareham, N.J.4
  • 27
    • 33846903056 scopus 로고    scopus 로고
    • Comment on 'A common genetic variant is associated with adult and childhood obesity'
    • author reply 187
    • Rosskopf D, Bornhorst A, Rimmbach C, Schwahn C, Kayser A, Kruger A et al. Comment on 'A common genetic variant is associated with adult and childhood obesity'. Science 2007; 315: 187 author reply 187.
    • (2007) Science , vol.315 , pp. 187
    • Rosskopf, D.1    Bornhorst, A.2    Rimmbach, C.3    Schwahn, C.4    Kayser, A.5    Kruger, A.6
  • 28
    • 73449085512 scopus 로고    scopus 로고
    • Meta-analysis of the INSIG2 association with obesity including 74, 345 individuals: Does heterogeneity of estimates relate to study design?
    • Heid IM, Huth C, Loos RJ, Kronenberg F, Adamkova V, Anand SS et al. Meta-analysis of the INSIG2 association with obesity including 74, 345 individuals: does heterogeneity of estimates relate to study design? PLoS Genet 2009; 5: e1000694.
    • (2009) PLoS Genet , vol.5
    • Heid, I.M.1    Huth, C.2    Loos, R.J.3    Kronenberg, F.4    Adamkova, V.5    Anand, S.S.6
  • 29
  • 30
    • 34247576412 scopus 로고    scopus 로고
    • The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts
    • Lyon HN, Emilsson V, Hinney A, Heid IM, Lasky-Su J, Zhu X et al. The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts. PLoS Genet 2007; 3: e61.
    • (2007) PLoS Genet , vol.3
    • Lyon, H.N.1    Emilsson, V.2    Hinney, A.3    Heid, I.M.4    Lasky-Su, J.5    Zhu, X.6
  • 31
    • 0037426052 scopus 로고    scopus 로고
    • Problems of reporting genetic associations with complex outcomes
    • Colhoun HM, McKeigue PM, Davey Smith G. Problems of reporting genetic associations with complex outcomes. Lancet 2003; 361: 865-872.
    • (2003) Lancet , vol.361 , pp. 865-872
    • Colhoun, H.M.1    McKeigue, P.M.2    Davey Smith, G.3
  • 32
    • 34247583983 scopus 로고    scopus 로고
    • Ethnic differences in the frequency of ENPP1/PC1 121Q genetic variant in the Dallas Heart Study cohort
    • Chandalia M, Grundy SM, Adams-Huet B, Abate N. Ethnic differences in the frequency of ENPP1/PC1 121Q genetic variant in the Dallas Heart Study cohort. J Diabetes Complications 2007; 21: 143-148.
    • (2007) J Diabetes Complications , vol.21 , pp. 143-148
    • Chandalia, M.1    Grundy, S.M.2    Adams-Huet, B.3    Abate, N.4
  • 33
    • 79953831476 scopus 로고    scopus 로고
    • Natural selection at genomic regions associated with obesity and type-2 diabetes: East Asians and sub-Saharan Africans exhibit high levels of differentiation at type-2 diabetes regions
    • Klimentidis YC, Abrams M, Wang J, Fernandez JR, Allison DB. Natural selection at genomic regions associated with obesity and type-2 diabetes: East Asians and sub-Saharan Africans exhibit high levels of differentiation at type-2 diabetes regions. Hum Genet 2011; 129: 407-418.
    • (2011) Hum Genet , vol.129 , pp. 407-418
    • Klimentidis, Y.C.1    Abrams, M.2    Wang, J.3    Fernandez, J.R.4    Allison, D.B.5
  • 34
    • 77950663235 scopus 로고    scopus 로고
    • European lactase persistence genotype shows evidence of association with increase in body mass index
    • Kettunen J, Silander K, Saarela O, Amin N, Muller M, Timpson N et al. European lactase persistence genotype shows evidence of association with increase in body mass index. Hum Mol Genet 2010; 19: 1129-1136.
    • (2010) Hum Mol Genet , vol.19 , pp. 1129-1136
    • Kettunen, J.1    Silander, K.2    Saarela, O.3    Amin, N.4    Muller, M.5    Timpson, N.6
  • 36
    • 0037442092 scopus 로고    scopus 로고
    • Population stratification and spurious allelic association
    • Cardon LR, Palmer LJ. Population stratification and spurious allelic association. Lancet 2003; 361: 598-604.
    • (2003) Lancet , vol.361 , pp. 598-604
    • Cardon, L.R.1    Palmer, L.J.2
  • 37
    • 63449093892 scopus 로고    scopus 로고
    • Hardy-Weinberg analysis of a large set of published association studies reveals genotyping error and a deficit of heterozygotes across multiple loci
    • Sen S, Burmeister M. Hardy-Weinberg analysis of a large set of published association studies reveals genotyping error and a deficit of heterozygotes across multiple loci. Hum Genomics 2008; 3: 36-52.
    • (2008) Hum Genomics , vol.3 , pp. 36-52
    • Sen, S.1    Burmeister, M.2
  • 38
    • 1842859051 scopus 로고    scopus 로고
    • Power and sample size calculations for case-control genetic association tests when errors are present: Application to single nucleotide polymorphisms
    • Gordon D, Finch SJ, Nothnagel M, Ott J. Power and sample size calculations for case-control genetic association tests when errors are present: application to single nucleotide polymorphisms. Hum Hered 2002; 54: 22-33.
    • (2002) Hum Hered , vol.54 , pp. 22-33
    • Gordon, D.1    Finch, S.J.2    Nothnagel, M.3    Ott, J.4
  • 39
    • 44449128208 scopus 로고    scopus 로고
    • INS VNTR is not associated with childhood obesity in 1, 023 families: A family-based study
    • Bouatia-Naji N, De Graeve F, Bronner G, Lecoeur C, Vatin V, Durand E et al. INS VNTR is not associated with childhood obesity in 1, 023 families: a family-based study. Obesity 2008; 16: 1471-1475.
    • (2008) Obesity , vol.16 , pp. 1471-1475
    • Bouatia-Naji, N.1    De Graeve, F.2    Bronner, G.3    Lecoeur, C.4    Vatin, V.5    Durand, E.6
  • 40
    • 0033662314 scopus 로고    scopus 로고
    • The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesity
    • Le Stunff C, Fallin D, Schork NJ, Bougneres P. The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesity. Nat Genet 2000; 26: 444-446.
    • (2000) Nat Genet , vol.26 , pp. 444-446
    • Le Stunff, C.1    Fallin, D.2    Schork, N.J.3    Bougneres, P.4
  • 41
    • 0038047591 scopus 로고    scopus 로고
    • Methodologic quality and genotyping reproducibility in studies of tumor necrosis factor-308G-4A single nucleotide polymorphism and bacterial sepsis: Implications for studies of complex traits
    • Peters DL, Barber Rl, Flood EM, Garner HR, O'Keefe GE. Methodologic quality and genotyping reproducibility in studies of tumor necrosis factor-308G-4A single nucleotide polymorphism and bacterial sepsis: implications for studies of complex traits. Crit Care Med 2003; 31: 1691-1696.
    • (2003) Crit Care Med , vol.31 , pp. 1691-1696
    • Peters, D.L.1    Rl, B.2    Flood, E.M.3    Garner, H.R.4    O'Keefe, G.E.5
  • 42
    • 33744800860 scopus 로고    scopus 로고
    • Case-control genetic association studies in gastrointestinal disease: Review and recommendations
    • Saito YA, Talley NJ, de Andrade M, Petersen GM. Case-control genetic association studies in gastrointestinal disease: review and recommendations. Am J Gastro-enterol 2006; 101: 1379-1389.
    • (2006) Am J Gastro-enterol , vol.101 , pp. 1379-1389
    • Saito, Y.A.1    Talley, N.J.2    De Andrade, M.3    Petersen, G.M.4
  • 43
    • 34248594090 scopus 로고    scopus 로고
    • A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    • Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007; 316: 889-894.
    • (2007) Science , vol.316 , pp. 889-894
    • Frayling, T.M.1    Timpson, N.J.2    Weedon, M.N.3    Zeggini, E.4    Freathy, R.M.5    Lindgren, C.M.6
  • 44
    • 0142059667 scopus 로고    scopus 로고
    • 'Are we there yet?': Deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits
    • Page GP, George V, Go RC, Page PZ, Allison DB. 'Are we there yet?': Deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits. Am J Hum Genet 2003; 73: 711-719.
    • (2003) Am J Hum Genet , vol.73 , pp. 711-719
    • Page, G.P.1    George, V.2    Go, R.C.3    Page, P.Z.4    Allison, D.B.5
  • 45
    • 27644554698 scopus 로고    scopus 로고
    • Framework for a fully powered risk engine
    • Framework for a fully powered risk engine. Nat Genet 2005; 37: 1153.
    • (2005) Nat Genet , vol.37 , pp. 1153
  • 46
    • 34249777814 scopus 로고    scopus 로고
    • Variation in FTO contributes to childhood obesity and severe adult obesity
    • Dina C, Meyre D, Gallina S, Durand E, Korner A, Jacobson P et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nat Genet 2007; 39: 724-726.
    • (2007) Nat Genet , vol.39 , pp. 724-726
    • Dina, C.1    Meyre, D.2    Gallina, S.3    Durand, E.4    Korner, A.5    Jacobson, P.6
  • 47
    • 34547625955 scopus 로고    scopus 로고
    • Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits
    • Scuteri A, Sanna S, Chen WM, Uda M, Albai G, Strait J et al. Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet 2007; 3: e115.
    • (2007) PLoS Genet , vol.3
    • Scuteri, A.1    Sanna, S.2    Chen, W.M.3    Uda, M.4    Albai, G.5    Strait, J.6
  • 48
    • 41749090524 scopus 로고    scopus 로고
    • Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants
    • Hinney A, Nguyen TT, Scherag A, Friedel S, Bronner G, Muller TD et al. Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants. PLoS One 2007; 2: e1361.
    • (2007) PLoS One , vol.2
    • Hinney, A.1    Nguyen, T.T.2    Scherag, A.3    Friedel, S.4    Bronner, G.5    Muller, T.D.6
  • 49
    • 26244444318 scopus 로고    scopus 로고
    • What makes a good genetic association study?
    • Hattersley AT, McCarthy MI. What makes a good genetic association study? Lancet 2005; 366: 1315-1323.
    • (2005) Lancet , vol.366 , pp. 1315-1323
    • Hattersley, A.T.1    McCarthy, M.I.2
  • 50
  • 51
    • 81855221882 scopus 로고    scopus 로고
    • Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans
    • Zhao J, Bradfield JP, Zhang H, Sleiman PM, Kim CE, Glessner JT et al. Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans. Obesity 2011; 19: 2436-2439.
    • (2011) Obesity , vol.19 , pp. 2436-2439
    • Zhao, J.1    Bradfield, J.P.2    Zhang, H.3    Sleiman, P.M.4    Kim, C.E.5    Glessner, J.T.6
  • 52
    • 38649101531 scopus 로고    scopus 로고
    • Required sample size and non-replicability thresholds for heterogeneous genetic associations
    • Moonesinghe R, Khoury MJ, Liu T, Ioannidis JP. Required sample size and non-replicability thresholds for heterogeneous genetic associations. Proc Natl Acad Sci USA 2008; 105: 617-622.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 617-622
    • Moonesinghe, R.1    Khoury, M.J.2    Liu, T.3    Ioannidis, J.P.4
  • 53
    • 60149102060 scopus 로고    scopus 로고
    • Size matters: Just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology
    • Burton PR, Hansell AL, Fortier I, Manolio TA, Khoury MJ, Little J et al. Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology. Int J Epidemiol 2009; 38: 263-273.
    • (2009) Int J Epidemiol , vol.38 , pp. 263-273
    • Burton, P.R.1    Hansell, A.L.2    Fortier, I.3    Manolio, T.A.4    Khoury, M.J.5    Little, J.6
  • 54
    • 79551567086 scopus 로고    scopus 로고
    • Genome-wide meta-analysis of joint tests for genetic and gene-environment interaction effects
    • Aschard H, Hancock DB, London SJ, Kraft P. Genome-wide meta-analysis of joint tests for genetic and gene-environment interaction effects. Hum Hered 2010; 70: 292-300.
    • (2010) Hum Hered , vol.70 , pp. 292-300
    • Aschard, H.1    Hancock, D.B.2    London, S.J.3    Kraft, P.4
  • 55
    • 0035172743 scopus 로고    scopus 로고
    • Sample size determination for studies of gene-environment interaction
    • Luan JA, Wong MY, Day NE, Wareham NJ. Sample size determination for studies of gene-environment interaction. Int J Epidemiol 2001; 30: 1035-1040.
    • (2001) Int J Epidemiol , vol.30 , pp. 1035-1040
    • Luan, J.A.1    Wong, M.Y.2    Day, N.E.3    Wareham, N.J.4
  • 56
    • 0036499241 scopus 로고    scopus 로고
    • Sample size requirements for association studies of gene-gene interaction
    • Gauderman WJ. Sample size requirements for association studies of gene-gene interaction. Am J Epidemiol 2002; 155: 478-484.
    • (2002) Am J Epidemiol , vol.155 , pp. 478-484
    • Gauderman, W.J.1
  • 57
    • 53249113155 scopus 로고    scopus 로고
    • Gene-environment interactions for complex traits: Definitions, methodological requirements and challenges
    • Dempfle A, Scherag A, Hein R, Beckmann L, Chang-Claude J, Schafer H. Gene-environment interactions for complex traits: definitions, methodological requirements and challenges. Eur J Hum Genet 2008; 16: 1164-1172.
    • (2008) Eur J Hum Genet , vol.16 , pp. 1164-1172
    • Dempfle, A.1    Scherag, A.2    Hein, R.3    Beckmann, L.4    Chang-Claude, J.5    Schafer, H.6
  • 58
    • 42249109208 scopus 로고    scopus 로고
    • Sample size requirements for indirect association studies of gene-environment interactions (G x E)
    • Hein R, Beckmann L, Chang-Claude J. Sample size requirements for indirect association studies of gene-environment interactions (G x E). Genet Epidemiol 2008; 32: 235-245.
    • (2008) Genet Epidemiol , vol.32 , pp. 235-245
    • Hein, R.1    Beckmann, L.2    Chang-Claude, J.3
  • 59
    • 82455175773 scopus 로고    scopus 로고
    • Physical activity attenuates the influence of FTO variants on obesity risk: A meta-analysis of 218, 166 adults and 19, 268 children
    • Kilpelainen TO, Qi L, Brage S, Sharp SJ, Sonestedt E, Demerath E et al. Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218, 166 adults and 19, 268 children. PLoS Med 2011; 8: e1001116.
    • (2011) PLoS Med , vol.8
    • Kilpelainen, T.O.1    Qi, L.2    Brage, S.3    Sharp, S.J.4    Sonestedt, E.5    Demerath, E.6
  • 60
    • 84862822438 scopus 로고    scopus 로고
    • Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations
    • Okada Y, Kubo M, Ohmiya H, Takahashi A, Kumasaka N, Hosono N et al. Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. Nat Genet 2012; 44: 302-306.
    • (2012) Nat Genet , vol.44 , pp. 302-306
    • Okada, Y.1    Kubo, M.2    Ohmiya, H.3    Takahashi, A.4    Kumasaka, N.5    Hosono, N.6
  • 61
    • 0034700892 scopus 로고    scopus 로고
    • Association studies of genetic polymorphisms and complex disease
    • Gambaro G, Anglani F, D'Angelo A. Association studies of genetic polymorphisms and complex disease. Lancet 2000; 355: 308-311.
    • (2000) Lancet , vol.355 , pp. 308-311
    • Gambaro, G.1    Anglani, F.2    D'Angelo, A.3
  • 62
    • 79958076981 scopus 로고    scopus 로고
    • FTO gene polymorphisms and obesity risk: A meta-analysis
    • Peng S, Zhu Y, Xu F, Ren X, Li X, Lai M. FTO gene polymorphisms and obesity risk: a meta-analysis. BMC Med 2011; 9: 71.
    • (2011) BMC Med , vol.9 , pp. 71
    • Peng, S.1    Zhu, Y.2    Xu, F.3    Ren, X.4    Li, X.5    Lai, M.6
  • 63
    • 33748316505 scopus 로고    scopus 로고
    • Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate
    • Groves CJ, Zeggini E, Walker M, Hitman GA, Levy JC, O'Rahilly S et al. Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate. Diabetes 2006; 55: 1884-1889.
    • (2006) Diabetes , vol.55 , pp. 1884-1889
    • Groves, C.J.1    Zeggini, E.2    Walker, M.3    Hitman, G.A.4    Levy, J.C.5    O'Rahilly, S.6
  • 64
    • 79952262429 scopus 로고    scopus 로고
    • Association between common variation at the FTO locus and changes in body mass index from infancy to late childhood: The complex nature of genetic association through growth and development
    • Sovio U, Mook-Kanamori DO, Warrington NM, Lawrence R, Briollais L, Palmer CN et al. Association between common variation at the FTO locus and changes in body mass index from infancy to late childhood: the complex nature of genetic association through growth and development. PLoS Genet 2011; 7: e1001307.
    • (2011) PLoS Genet , vol.7
    • Sovio, U.1    Mook-Kanamori, D.O.2    Warrington, N.M.3    Lawrence, R.4    Briollais, L.5    Palmer, C.N.6
  • 65
    • 70249146533 scopus 로고    scopus 로고
    • Underlying genetic models of inheritance in established type 2 diabetes associations
    • Salanti G, Southam L, Altshuler D, Ardlie K, Barroso I, Boehnke M et al. Underlying genetic models of inheritance in established type 2 diabetes associations. Am J Epidemiol 2009; 170: 537-545.
    • (2009) Am J Epidemiol , vol.170 , pp. 537-545
    • Salanti, G.1    Southam, L.2    Altshuler, D.3    Ardlie, K.4    Barroso, I.5    Boehnke, M.6
  • 66
    • 23044493861 scopus 로고    scopus 로고
    • Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes
    • Meyre D, Bouatia-Naji N, Tounian A, Samson C, Lecoeur C, Vatin V et al. Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. Nat Genet 2005; 37: 863-867.
    • (2005) Nat Genet , vol.37 , pp. 863-867
    • Meyre, D.1    Bouatia-Naji, N.2    Tounian, A.3    Samson, C.4    Lecoeur, C.5    Vatin, V.6
  • 67
    • 42449116149 scopus 로고    scopus 로고
    • The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: Evidence from an updated meta-analysis in 42, 042 subjects
    • McAteer JB, Prudente S, Bacci S, Lyon HN, Hirschhorn JN, Trischitta V et al. The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42, 042 subjects. Diabetes 2008; 57: 1125-1130.
    • (2008) Diabetes , vol.57 , pp. 1125-1130
    • McAteer, J.B.1    Prudente, S.2    Bacci, S.3    Lyon, H.N.4    Hirschhorn, J.N.5    Trischitta, V.6
  • 68
    • 33846563409 scopus 로고    scopus 로고
    • Why most published research findings are false
    • Ioannidis JP. Why most published research findings are false. PLoS Med 2005; 2: e124.
    • (2005) PLoS Med , vol.2
    • Ioannidis, J.P.1
  • 69
    • 18844423324 scopus 로고    scopus 로고
    • Early extreme contradictory estimates may appear in published research: The Proteus phenomenon in molecular genetics research and randomized trials
    • Ioannidis JP, Trikalinos TA. Early extreme contradictory estimates may appear in published research: the Proteus phenomenon in molecular genetics research and randomized trials. J Clin Epidemiol 2005; 58: 543-549.
    • (2005) J Clin Epidemiol , vol.58 , pp. 543-549
    • Ioannidis, J.P.1    Trikalinos, T.A.2
  • 70
    • 79959378465 scopus 로고    scopus 로고
    • Family-based designs for genome-wide association studies
    • Ott J, Kamatani Y, Lathrop M. Family-based designs for genome-wide association studies. Nat Rev Genet 2011; 12: 465-474.
    • (2011) Nat Rev Genet , vol.12 , pp. 465-474
    • Ott, J.1    Kamatani, Y.2    Lathrop, M.3
  • 71
    • 0029741063 scopus 로고    scopus 로고
    • The future of genetic studies of complex human diseases
    • Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273: 1516-1517.
    • (1996) Science , vol.273 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 72
    • 77949789670 scopus 로고    scopus 로고
    • Comparing apples and oranges: Equating the power of case-control and quantitative trait association studies
    • Yang J, Wray NR, Visscher PM. Comparing apples and oranges: equating the power of case-control and quantitative trait association studies. Genet Epidemiol 2010; 34: 254-257.
    • (2010) Genet Epidemiol , vol.34 , pp. 254-257
    • Yang, J.1    Wray, N.R.2    Visscher, P.M.3
  • 73
    • 82255183115 scopus 로고    scopus 로고
    • Missing heritability in the tails of quantitative traits? A simulation study on the impact of slightly altered true genetic models
    • Putter C, Pechlivanis S, Nothen MM, Jockel KH, Wichmann HE, Scherag A. Missing heritability in the tails of quantitative traits? A simulation study on the impact of slightly altered true genetic models. Hum Hered 2011; 72: 172-180.
    • (2011) Hum Hered , vol.72 , pp. 172-180
    • Putter, C.1    Pechlivanis, S.2    Nothen, M.M.3    Jockel, K.H.4    Wichmann, H.E.5    Scherag, A.6
  • 74
    • 38449117820 scopus 로고    scopus 로고
    • Designing candidate gene and genome-wide case-control association studies
    • Zondervan KT, Cardon LR. Designing candidate gene and genome-wide case-control association studies. Nat Protoc 2007; 2: 2492-2501.
    • (2007) Nat Protoc , vol.2 , pp. 2492-2501
    • Zondervan, K.T.1    Cardon, L.R.2
  • 75
    • 84856278653 scopus 로고    scopus 로고
    • Common variants in FTO, MC4R, TMEM18, PRL, AIF1, and PCSK1 show evidence of association with adult obesity in the Greek population
    • Rouskas K, Kouvatsi A, Paletas K, Papazoglou D, Tsapas A, Lobbens S et al. Common variants in FTO, MC4R, TMEM18, PRL, AIF1, and PCSK1 show evidence of association with adult obesity in the Greek population. Obesity 2012; 20: 389-395.
    • (2012) Obesity , vol.20 , pp. 389-395
    • Rouskas, K.1    Kouvatsi, A.2    Paletas, K.3    Papazoglou, D.4    Tsapas, A.5    Lobbens, S.6
  • 76
    • 0030854317 scopus 로고    scopus 로고
    • Selected methodological issues in meiotic mapping of obesity genes in humans: Issues of power and efficiency
    • Allison DB, Schork NJ. Selected methodological issues in meiotic mapping of obesity genes in humans: issues of power and efficiency. Behav Genet 1997; 27: 401-421.
    • (1997) Behav Genet , vol.27 , pp. 401-421
    • Allison, D.B.1    Schork, N.J.2
  • 77
    • 33846291740 scopus 로고    scopus 로고
    • Underreporting of BMI in adults and its effect on obesity prevalence estimations in the period 1998 to 2001
    • Visscher TL, Viet AL, Kroesbergen IH, Seidell JC. Underreporting of BMI in adults and its effect on obesity prevalence estimations in the period 1998 to 2001. Obesity 2006; 14: 2054-2063.
    • (2006) Obesity , vol.14 , pp. 2054-2063
    • Visscher, T.L.1    Viet, A.L.2    Kroesbergen, I.H.3    Seidell, J.C.4
  • 78
    • 77954738662 scopus 로고    scopus 로고
    • Genetic studies of common types of obesity: A critique of the current use of phenotypes
    • Muller MJ, Bosy-Westphal A, Krawczak M. Genetic studies of common types of obesity: a critique of the current use of phenotypes. Obes Rev 2010; 11: 612-618.
    • (2010) Obes Rev , vol.11 , pp. 612-618
    • Muller, M.J.1    Bosy-Westphal, A.2    Krawczak, M.3
  • 79
    • 77956220614 scopus 로고    scopus 로고
    • Computed tomography-based validation of abdominal adiposity measurements from ultrasonography, dual-energy X-ray absorptiometry and anthropometry
    • Gradmark AM, Rydh A, Renstrom F, De Lucia-Rolfe E, Sleigh A, Nordstrom P et al. Computed tomography-based validation of abdominal adiposity measurements from ultrasonography, dual-energy X-ray absorptiometry and anthropometry. Br J Nutr 2010; 104: 582-588.
    • (2010) Br J Nutr , vol.104 , pp. 582-588
    • Gradmark, A.M.1    Rydh, A.2    Renstrom, F.3    De Lucia-Rolfe, E.4    Sleigh, A.5    Nordstrom, P.6
  • 80
    • 34547152772 scopus 로고    scopus 로고
    • Heritability of hyperphagic eating behavior and appetite-related hormones among Hispanic children
    • Fisher JO, Cai G, Jaramillo SJ, Cole SA, Comuzzie AG, Butte NF. Heritability of hyperphagic eating behavior and appetite-related hormones among Hispanic children. Obesity 2007; 15: 1484-1495.
    • (2007) Obesity , vol.15 , pp. 1484-1495
    • Fisher, J.O.1    Cai, G.2    Jaramillo, S.J.3    Cole, S.A.4    Comuzzie, A.G.5    Butte, N.F.6
  • 81
    • 41649090385 scopus 로고    scopus 로고
    • 'Deep phenotyping': Characterizing populations in the era of genomics and systems biology
    • Tracy RP. 'Deep phenotyping': characterizing populations in the era of genomics and systems biology. Curr Opin Lipidol 2008; 19: 151-157.
    • (2008) Curr Opin Lipidol , vol.19 , pp. 151-157
    • Tracy, R.P.1
  • 83
    • 70349085767 scopus 로고    scopus 로고
    • Functional body composition: Insights into the regulation of energy metabolism and some clinical applications
    • Muller MJ, Bosy-Westphal A, Later W, Haas V, Heller M. Functional body composition: insights into the regulation of energy metabolism and some clinical applications. Eur J Clin Nutr 2009; 63: 1045-1056.
    • (2009) Eur J Clin Nutr , vol.63 , pp. 1045-1056
    • Muller, M.J.1    Bosy-Westphal, A.2    Later, W.3    Haas, V.4    Heller, M.5
  • 84
    • 2542500627 scopus 로고    scopus 로고
    • Genetic dissection of diseases: Design and methods
    • Hoh J, Ott J. Genetic dissection of diseases: design and methods. Curr Opin Genet Dev 2004; 14: 229-232.
    • (2004) Curr Opin Genet Dev , vol.14 , pp. 229-232
    • Hoh, J.1    Ott, J.2
  • 87
    • 78649912197 scopus 로고    scopus 로고
    • Biological pathway-based genome-wide association analysis identified the vasoactive intestinal peptide (VIP) pathway important for obesity
    • Liu YJ, Guo YF, Zhang LS, Pei YF, Yu N, Yu P et al. Biological pathway-based genome-wide association analysis identified the vasoactive intestinal peptide (VIP) pathway important for obesity. Obesity 2010; 18: 2339-2346.
    • (2010) Obesity , vol.18 , pp. 2339-2346
    • Liu, Y.J.1    Guo, Y.F.2    Zhang, L.S.3    Pei, Y.F.4    Yu, N.5    Yu, P.6
  • 88
    • 77950188611 scopus 로고    scopus 로고
    • Linkage and genome-wide association analysis of obesity-related phenotypes: Association of weight with the MGAT1 gene
    • Johansson A, Marroni F, Hayward C, Franklin CS, Kirichenko AV, Jonasson I et al. Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene. Obesity 2010; 18: 803-808.
    • (2010) Obesity , vol.18 , pp. 803-808
    • Johansson, A.1    Marroni, F.2    Hayward, C.3    Franklin, C.S.4    Kirichenko, A.V.5    Jonasson, I.6
  • 89
    • 79952097156 scopus 로고    scopus 로고
    • Genetic polymorphisms in the hypothalamic pathway in relation to subsequent weight change - The DiOGenes study
    • Du H, Vimaleswaran KS, Angquist L, Hansen RD, van der AD, Holst C et al. Genetic polymorphisms in the hypothalamic pathway in relation to subsequent weight change-the DiOGenes study. PLoS One 2011; 6: e17436.
    • (2011) PLoS One , vol.6
    • Du, H.1    Vimaleswaran, K.S.2    Angquist, L.3    Hansen, R.D.4    Van Der, A.D.5    Holst, C.6
  • 90
    • 79959916375 scopus 로고    scopus 로고
    • A survey of the genetics of stomach, liver, and adipose gene expression from a morbidly obese cohort
    • Greenawalt DM, Dobrin R, Chudin E, Hatoum IJ, Suver C, Beaulaurier J et al. A survey of the genetics of stomach, liver, and adipose gene expression from a morbidly obese cohort. Genome Res 2011; 21: 1008-1016.
    • (2011) Genome Res , vol.21 , pp. 1008-1016
    • Greenawalt, D.M.1    Dobrin, R.2    Chudin, E.3    Hatoum, I.J.4    Suver, C.5    Beaulaurier, J.6
  • 92
    • 0032231375 scopus 로고    scopus 로고
    • Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus
    • Nielsen DM, Ehm MG, Weir BS. Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus. Am J Hum Genet 1998; 63: 1531-1540.
    • (1998) Am J Hum Genet , vol.63 , pp. 1531-1540
    • Nielsen, D.M.1    Ehm, M.G.2    Weir, B.S.3
  • 93
    • 1642295096 scopus 로고    scopus 로고
    • Assessing the probability that a positive report is false: An approach for molecular epidemiology studies
    • Wacholder S, Chanock S, Garcia-Closas M, El Ghormli L, Rothman N. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J Natl Cancer Inst 2004; 96: 434-442.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 434-442
    • Wacholder, S.1    Chanock, S.2    Garcia-Closas, M.3    El Ghormli, L.4    Rothman, N.5
  • 94
    • 15944388957 scopus 로고    scopus 로고
    • An efficient Monte Carlo approach to assessing statistical significance in genomic studies
    • Lin DY. An efficient Monte Carlo approach to assessing statistical significance in genomic studies. Bioinformatics 2005; 21: 781-787.
    • (2005) Bioinformatics , vol.21 , pp. 781-787
    • Lin, D.Y.1
  • 95
    • 31744435871 scopus 로고    scopus 로고
    • Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies
    • Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006; 38: 209-213.
    • (2006) Nat Genet , vol.38 , pp. 209-213
    • Skol, A.D.1    Scott, L.J.2    Abecasis, G.R.3    Boehnke, M.4
  • 96
    • 38949113135 scopus 로고    scopus 로고
    • Correction of population stratification in large multi-ethnic association studies
    • Serre D, Montpetit A, Pare G, Engert JC, Yusuf S, Keavney B et al. Correction of population stratification in large multi-ethnic association studies. PLoS One 2008; 3: e1382.
    • (2008) PLoS One , vol.3
    • Serre, D.1    Montpetit, A.2    Pare, G.3    Engert, J.C.4    Yusuf, S.5    Keavney, B.6
  • 98
    • 79954585465 scopus 로고    scopus 로고
    • A comparison of association methods correcting for population stratification in case-control studies
    • Wu C, DeWan A, Hoh J, Wang Z. A comparison of association methods correcting for population stratification in case-control studies. Ann Hum Genet 2011; 75: 418-427.
    • (2011) Ann Hum Genet , vol.75 , pp. 418-427
    • Wu, C.1    Dewan, A.2    Hoh, J.3    Wang, Z.4
  • 100
    • 57549090341 scopus 로고    scopus 로고
    • Accounting for ancestry: Population substructure and genome-wide association studies
    • Tian C, Gregersen PK, Seldin MF. Accounting for ancestry: population substructure and genome-wide association studies. Hum Mol Genet 2008; 17(R2): R143-R150.
    • (2008) Hum Mol Genet , vol.17 , Issue.R2
    • Tian, C.1    Gregersen, P.K.2    Seldin, M.F.3
  • 101
    • 79953045460 scopus 로고    scopus 로고
    • Overview of techniques to account for confounding due to population stratification and cryptic relatedness in genomic data association analyses
    • Sillanpaa MJ. Overview of techniques to account for confounding due to population stratification and cryptic relatedness in genomic data association analyses. Heredity 2011; 106: 511-519.
    • (2011) Heredity , vol.106 , pp. 511-519
    • Sillanpaa, M.J.1
  • 102
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
    • Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52: 506-516.
    • (1993) Am J Hum Genet , vol.52 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 103
    • 34147119077 scopus 로고    scopus 로고
    • Overcoming the winner's curse: Estimating penetrance parameters from case-control data
    • Zollner S, Pritchard JK. Overcoming the winner's curse: estimating penetrance parameters from case-control data. Am J Hum Genet 2007; 80: 605-615.
    • (2007) Am J Hum Genet , vol.80 , pp. 605-615
    • Zollner, S.1    Pritchard, J.K.2
  • 104
    • 41049087605 scopus 로고    scopus 로고
    • Heterogeneity in meta-analyses of genome-wide association investigations
    • Ioannidis JP, Patsopoulos NA, Evangelou E. Heterogeneity in meta-analyses of genome-wide association investigations. PLoS One 2007; 2: e841.
    • (2007) PLoS One , vol.2
    • Ioannidis, J.P.1    Patsopoulos, N.A.2    Evangelou, E.3
  • 105
    • 80055049197 scopus 로고    scopus 로고
    • STrengthening the Reporting of OBservational studies in Epidemiology-Molecular Epidemiology (STROBE-ME): An Extension of the STROBE Statement
    • Gallo V, Egger M, McCormack V, Farmer PB, Ioannidis JP, Kirsch-Volders M et al. STrengthening the Reporting of OBservational studies in Epidemiology-Molecular Epidemiology (STROBE-ME): An Extension of the STROBE Statement. PLoS Med 2011; 8: e1001117.
    • (2011) PLoS Med , vol.8
    • Gallo, V.1    Egger, M.2    McCormack, V.3    Farmer, P.B.4    Ioannidis, J.P.5    Kirsch-Volders, M.6
  • 106
    • 70849136674 scopus 로고    scopus 로고
    • The quality of meta-analyses of genetic association studies: A review with recommendations
    • Minelli C, Thompson JR, Abrams KR, Thakkinstian A, Attia J. The quality of meta-analyses of genetic association studies: a review with recommendations. Am J Epidemiol 2009; 170: 1333-1343.
    • (2009) Am J Epidemiol , vol.170 , pp. 1333-1343
    • Minelli, C.1    Thompson, J.R.2    Abrams, K.R.3    Thakkinstian, A.4    Attia, J.5
  • 107
    • 34447329000 scopus 로고    scopus 로고
    • On the synthesis and interpretation of consistent but weak gene-disease associations in the era of genome-wide association studies
    • Khoury MJ, Little J, Gwinn M, Ioannidis JP. On the synthesis and interpretation of consistent but weak gene-disease associations in the era of genome-wide association studies. Int J Epidemiol 2007; 36: 439-445.
    • (2007) Int J Epidemiol , vol.36 , pp. 439-445
    • Khoury, M.J.1    Little, J.2    Gwinn, M.3    Ioannidis, J.P.4
  • 108
    • 79956266403 scopus 로고    scopus 로고
    • Genetics of obesity: What have we learned?
    • Choquet H, Meyre D. Genetics of obesity: what have we learned? Curr Genomics 2011; 12: 169-179.
    • (2011) Curr Genomics , vol.12 , pp. 169-179
    • Choquet, H.1    Meyre, D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.