메뉴 건너뛰기




Volumn 5, Issue 11, 2010, Pages

Phenotypic complexity, measurement bias, and poor phenotypic resolution contribute to the missing heritability problem in genetic association studies

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HERITABILITY; MEASUREMENT ERROR; PHENOTYPE; PHENOTYPIC VARIATION; PSYCHOMETRY; STATISTICAL ANALYSIS; STATISTICAL MODEL; ANIMAL; BIOLOGICAL MODEL; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HUMAN; MALE; METHODOLOGY;

EID: 78649746026     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0013929     Document Type: Article
Times cited : (101)

References (55)
  • 1
    • 67349199566 scopus 로고    scopus 로고
    • Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
    • Barrett JC, Clayton DG, Concannon P, Akolkar B, Cooper JD, et al. (2009) Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet 41: 703-707.
    • (2009) Nat Genet , vol.41 , pp. 703-707
    • Barrett, J.C.1    Clayton, D.G.2    Concannon, P.3    Akolkar, B.4    Cooper, J.D.5
  • 2
    • 72949091442 scopus 로고    scopus 로고
    • Steroid 5-a-Reductase Type 2 (SRD5a2) gene polymorphism and risk of prostate cancer: A HuGE review Human Genome
    • Li J, Coates RJ, Gwinn M, Khoury MJ (2010) Steroid 5-a-Reductase Type 2 (SRD5a2) gene polymorphism and risk of prostate cancer: a HuGE review Human Genome. Epidemiology 171: 1-13.
    • (2010) Epidemiology , vol.171 , pp. 1-13
    • Li, J.1    Coates, R.J.2    Gwinn, M.3    Khoury, M.J.4
  • 3
    • 73649085197 scopus 로고    scopus 로고
    • Polymorphisms in the promotor region of matrix metalloproteinases 1 and 3 cancer risk: A meta-analysis of 50 case-control studies
    • Peng B, Cao L, Wang W, Xian L, Jiang D, et al. (2010) Polymorphisms in the promotor region of matrix metalloproteinases 1 and 3 cancer risk: a meta-analysis of 50 case-control studies. Mutagenesis 25: 41-48.
    • (2010) Mutagenesis , vol.25 , pp. 41-48
    • Peng, B.1    Cao, L.2    Wang, W.3    Xian, L.4    Jiang, D.5
  • 4
    • 77649237093 scopus 로고    scopus 로고
    • Differential effects of NOD2 polymorphisms on colorectal cancer risk: A meta-analysis
    • Tian Y, Li Y, Hu Z, Wang D, Sum X, et al. (2010) Differential effects of NOD2 polymorphisms on colorectal cancer risk: a meta-analysis. Int J Colorectal Dis 25: 161-168.
    • (2010) Int J Colorectal Dis , vol.25 , pp. 161-168
    • Tian, Y.1    Li, Y.2    Hu, Z.3    Wang, D.4    Sum, X.5
  • 5
    • 67349176205 scopus 로고    scopus 로고
    • ATG16L1 T300A polymorphism and Crohn's disease susceptibility: Evidence from 13022 cases and 17532 controls
    • Zhang HF, Qiu LX, Chen Y, Zu WL, Mao C, et al. (2009) ATG16L1 T300A polymorphism and Crohn's disease susceptibility: evidence from 13022 cases and 17532 controls. Hum Gen 125: 627-631.
    • (2009) Hum Gen , vol.125 , pp. 627-631
    • Zhang, H.F.1    Qiu, L.X.2    Chen, Y.3    Zu, W.L.4    Mao, C.5
  • 6
    • 62849128600 scopus 로고    scopus 로고
    • Genome-wide association for major depressive disorder: A possible role for the presynaptic protein picollo
    • Sullivan PF, de Geus EJC, Willemsen G, James MR, Smit JH, et al. (2009) Genome-wide association for major depressive disorder: a possible role for the presynaptic protein picollo. Mol Psych 14: 359-375.
    • (2009) Mol Psych , vol.14 , pp. 359-375
    • Sullivan, P.F.1    de Geus, E.J.C.2    Willemsen, G.3    James, M.R.4    Smit, J.H.5
  • 7
    • 68449086236 scopus 로고    scopus 로고
    • Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
    • Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, et al. (2009) Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460: 748-752.
    • (2009) Nature , vol.460 , pp. 748-752
    • Purcell, S.M.1    Wray, N.R.2    Stone, J.L.3    Visscher, P.M.4    O'Donovan, M.C.5
  • 9
    • 67651113905 scopus 로고    scopus 로고
    • Genome-wide association studies in ADHD
    • Franke B, Neale BM, Faraone SV (2009) Genome-wide association studies in ADHD. Hum Gen 126: 13-50.
    • (2009) Hum Gen , vol.126 , pp. 13-50
    • Franke, B.1    Neale, B.M.2    Faraone, S.V.3
  • 10
    • 55549147191 scopus 로고    scopus 로고
    • The case of the missing heritability
    • Maher B (2008) The case of the missing heritability. Nature 456: 18-21.
    • (2008) Nature , vol.456 , pp. 18-21
    • Maher, B.1
  • 11
    • 77049105158 scopus 로고    scopus 로고
    • Beyond genome-wide association studies: Genetic heterogeneity and individual predisposition to cancer
    • Galvan A, Ioannidis JPA, Dragani TA (2010) Beyond genome-wide association studies: genetic heterogeneity and individual predisposition to cancer. Trends Genet 26: 132-141.
    • (2010) Trends Genet , vol.26 , pp. 132-141
    • Galvan, A.1    Ioannidis, J.P.A.2    Dragani, T.A.3
  • 13
    • 42349112088 scopus 로고    scopus 로고
    • Genome-wide association studies for complex traits: Consensus, uncertainty, and challenges
    • McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, et al. (2008) Genome-wide association studies for complex traits: consensus, uncertainty, and challenges. Nat Rev Genet 9: 356-369.
    • (2008) Nat Rev Genet , vol.9 , pp. 356-369
    • McCarthy, M.I.1    Abecasis, G.R.2    Cardon, L.R.3    Goldstein, D.B.4    Little, J.5
  • 15
    • 34447129720 scopus 로고    scopus 로고
    • Non-replication and inconsistency in the genome-wide association setting
    • Ioannidis JPA (2007) Non-replication and inconsistency in the genome-wide association setting. Hum Hered 64: 203-213.
    • (2007) Hum Hered , vol.64 , pp. 203-213
    • Ioannidis, J.P.A.1
  • 16
    • 38449117820 scopus 로고    scopus 로고
    • Designing candidate gene and genome-wide case-control association studies
    • Zondervan KT, Cardon LR (2007) Designing candidate gene and genome-wide case-control association studies. Nat Protoc 2: 2492-2501.
    • (2007) Nat Protoc , vol.2 , pp. 2492-2501
    • Zondervan, K.T.1    Cardon, L.R.2
  • 17
    • 77954140531 scopus 로고    scopus 로고
    • Common SNPs explain a large proportion of the heritability for human height
    • Yang J, Benyamin B, McEvoy BP, Gordon S, Henders A, et al. (2010) Common SNPs explain a large proportion of the heritability for human height. Nat Genet 42: 565-569.
    • (2010) Nat Genet , vol.42 , pp. 565-569
    • Yang, J.1    Benyamin, B.2    McEvoy, B.P.3    Gordon, S.4    Henders, A.5
  • 22
    • 0036311279 scopus 로고    scopus 로고
    • Application of hierarchical genetic models to Raven and WASI subtests: A Dutch twin study
    • Rijsdijk FV, Vernon PA, Boomsma DI (2002) Application of hierarchical genetic models to Raven and WASI subtests: a Dutch twin study. Behav Genet 32: 199-210.
    • (2002) Behav Genet , vol.32 , pp. 199-210
    • Rijsdijk, F.V.1    Vernon, P.A.2    Boomsma, D.I.3
  • 23
    • 0035699382 scopus 로고    scopus 로고
    • Perceptual speed and IQ are associated through common genetic factors
    • Posthuma D, de Geus EJC, Boomsma DI (2001) Perceptual speed and IQ are associated through common genetic factors. Behav Genet 31: 593-602.
    • (2001) Behav Genet , vol.31 , pp. 593-602
    • Posthuma, D.1    de Geus, E.J.C.2    Boomsma, D.I.3
  • 24
    • 34447122121 scopus 로고    scopus 로고
    • Longitudinal genetic study of verbal and nonverbal IQ in early childhood to Young adulthood
    • Hoekstra RA, Bartels M, Boomsma DI (2007) Longitudinal genetic study of verbal and nonverbal IQ in early childhood to Young adulthood. Learn and Individ Differ 17: 97-114.
    • (2007) Learn and Individ Differ , vol.17 , pp. 97-114
    • Hoekstra, R.A.1    Bartels, M.2    Boomsma, D.I.3
  • 25
    • 0034230439 scopus 로고    scopus 로고
    • Genetic and environmental covariation between verbal and nonverbal cognitive development in infancy
    • Price TS, Eley TC, Dale PS, Stevenson J, Sausino K, et al. (2000) Genetic and environmental covariation between verbal and nonverbal cognitive development in infancy. Child Dev 71: 948-959.
    • (2000) Child Dev , vol.71 , pp. 948-959
    • Price, T.S.1    Eley, T.C.2    Dale, P.S.3    Stevenson, J.4    Sausino, K.5
  • 26
    • 0028948914 scopus 로고
    • Multivariate genetic analysis of Wechsler Intelligence Scale for Children - Revised (WISC-R) factors
    • Casto SD, DeFries JC, Fulker DW (1995) Multivariate genetic analysis of Wechsler Intelligence Scale for Children - Revised (WISC-R) factors. Behav Genet 25: 25-32.
    • (1995) Behav Genet , vol.25 , pp. 25-32
    • Casto, S.D.1    Defries, J.C.2    Fulker, D.W.3
  • 27
    • 0036532578 scopus 로고    scopus 로고
    • Genetics and general cognitive ability (g)
    • Plomin R, Spinath FM (2002) Genetics and general cognitive ability (g). Trends Cogn Sci 6: 169-176.
    • (2002) Trends Cogn Sci , vol.6 , pp. 169-176
    • Plomin, R.1    Spinath, F.M.2
  • 29
    • 34748901811 scopus 로고    scopus 로고
    • Genetic support for the dual nature of attention deficit hyperactivity disorder: Substantial genetic overlap between the inattentive and hyperactive-impulsive components
    • McLoughlin G, Ronald A, Kuntsi J, Asherson P, Plomin R (2007) Genetic support for the dual nature of attention deficit hyperactivity disorder: substantial genetic overlap between the inattentive and hyperactive-impulsive components. J Abnorm Child Psych 35: 999-1008.
    • (2007) J Abnorm Child Psych , vol.35 , pp. 999-1008
    • McLoughlin, G.1    Ronald, A.2    Kuntsi, J.3    Asherson, P.4    Plomin, R.5
  • 30
    • 33746464878 scopus 로고    scopus 로고
    • Genetic contributions to the development of ADHD subtypes from childhood to adolescence
    • Larsson H, Lichtenstein P, Larsson JO (2006) Genetic contributions to the development of ADHD subtypes from childhood to adolescence. J Am Acad Child Psy 45: 973-981.
    • (2006) J Am Acad Child Psy , vol.45 , pp. 973-981
    • Larsson, H.1    Lichtenstein, P.2    Larsson, J.O.3
  • 31
    • 0002816130 scopus 로고
    • Sufficient statistics and latent trait models
    • Andersen EB (1977) Sufficient statistics and latent trait models. Psychometrika 42: 69-81.
    • (1977) Psychometrika , vol.42 , pp. 69-81
    • Andersen, E.B.1
  • 33
    • 34250748411 scopus 로고    scopus 로고
    • Variance decomposition using an IRT measurement model
    • Van den Berg SM, Glas CAW, Boomsma DI (2007) Variance decomposition using an IRT measurement model. Behav Genet 37: 604-616.
    • (2007) Behav Genet , vol.37 , pp. 604-616
    • Van den, B.S.M.1    Glas, C.A.W.2    Boomsma, D.I.3
  • 34
    • 28544447288 scopus 로고    scopus 로고
    • Problems with using sum-scores for estimating variance components: Contamination and measurement noninvariance
    • Neale MC, Lubke GH, Aggen SH, Dolan CV (2005) Problems with using sum-scores for estimating variance components: contamination and measurement noninvariance. Twin Res Hum Genet 8: 553-568.
    • (2005) Twin Res Hum Genet , vol.8 , pp. 553-568
    • Neale, M.C.1    Lubke, G.H.2    Aggen, S.H.3    Dolan, C.V.4
  • 35
    • 40049106224 scopus 로고    scopus 로고
    • Power calculations using exact data simulation: A useful tool for genetic study designs
    • Van der Sluis S, Dolan CV, Neale MC, Posthuma D (2008) Power calculations using exact data simulation: A useful tool for genetic study designs. Behav Genet 38: 202-211.
    • (2008) Behav Genet , vol.38 , pp. 202-211
    • Van der, S.S.1    Dolan, C.V.2    Neale, M.C.3    Posthuma, D.4
  • 36
    • 0000411479 scopus 로고
    • Item bias and item response theory
    • Mellenbergh GJ (1989) Item bias and item response theory. Int J Educ Res 13: 127-143.
    • (1989) Int J Educ Res , vol.13 , pp. 127-143
    • Mellenbergh, G.J.1
  • 37
    • 34147110831 scopus 로고
    • Measurement invariance, factor analysis, and factorial invariance
    • Meredith W (1993) Measurement invariance, factor analysis, and factorial invariance. Psychometrika 58: 525-543.
    • (1993) Psychometrika , vol.58 , pp. 525-543
    • Meredith, W.1
  • 38
    • 3142780583 scopus 로고    scopus 로고
    • Implications of absence of measurement invariance for detecting sex limitation and genotype by environment interaction
    • Lubke GH, Dolan CV, Neale MC (2004) Implications of absence of measurement invariance for detecting sex limitation and genotype by environment interaction. Twin Res 7: 292-298.
    • (2004) Twin Res , vol.7 , pp. 292-298
    • Lubke, G.H.1    Dolan, C.V.2    Neale, M.C.3
  • 39
    • 77954550343 scopus 로고    scopus 로고
    • Deconstructing major depression: A validation study of the DSM-IV symptomatic criteria
    • Doi: 101017/S0033291709992157
    • Lux V, Kendler KS (2010) Deconstructing major depression: a validation study of the DSM-IV symptomatic criteria. Psych Med doi: 101017/ S0033291709992157.
    • (2010) Psych Med
    • Lux, V.1    Kendler, K.S.2
  • 41
    • 0000298763 scopus 로고    scopus 로고
    • Measurement precision in test score and item response models
    • Mellenbergh GJ (1996) Measurement precision in test score and item response models. Psychol Methods 1: 293-299.
    • (1996) Psychol Methods , vol.1 , pp. 293-299
    • Mellenbergh, G.J.1
  • 43
    • 67650462661 scopus 로고    scopus 로고
    • Group differences in the heritability of item and test scores
    • Wicherts JM, Johnson W (2009) Group differences in the heritability of item and test scores. Proc Royal Soc B - Biol Sci 276: 2675-2683.
    • (2009) Proc Royal Soc B - Biol Sci , vol.276 , pp. 2675-2683
    • Wicherts, J.M.1    Johnson, W.2
  • 46
    • 0000721024 scopus 로고
    • Model modification
    • Sörbom D (1989) Model modification. Psychometrika 54: 371-384.
    • (1989) Psychometrika , vol.54 , pp. 371-384
    • Sörbom, D.1
  • 47
    • 34250748411 scopus 로고    scopus 로고
    • Variance decomposition using an IRT measurement model
    • Van den Berg SM, Glas CAW, Boomsma DI (2007) Variance decomposition using an IRT measurement model. Behav Genet 37: 604-616.
    • (2007) Behav Genet , vol.37 , pp. 604-616
    • Van den, B.S.M.1    Glas, C.A.W.2    Boomsma, D.I.3
  • 48
    • 33750289980 scopus 로고    scopus 로고
    • A Dynamic model of general intelligence: The positive manifold of intelligence by mutualism
    • Van der Maas HLJ, Dolan CV, Grasman RPPP, Wicherts JM, Huizenga HM, et al. (2006) A Dynamic model of general intelligence: the positive manifold of intelligence by mutualism. Psychol Rev 113: 842-861.
    • (2006) Psychol Rev , vol.113 , pp. 842-861
    • Van der, M.H.L.J.1    Dolan, C.V.2    Grasman, R.P.P.P.3    Wicherts, J.M.4    Huizenga, H.M.5
  • 49
    • 77950300106 scopus 로고    scopus 로고
    • Latent variable theory
    • Borsboom D (2008) Latent variable theory. Measurement 6: 25-53.
    • (2008) Measurement , vol.6 , pp. 25-53
    • Borsboom, D.1
  • 50
    • 0347973105 scopus 로고
    • Conventional wisdom on measurement: A structural equation perspective
    • Bollen K, Lennox R (1991) Conventional wisdom on measurement: a structural equation perspective. Psychol Bull 110: 305-314.
    • (1991) Psychol Bull , vol.110 , pp. 305-314
    • Bollen, K.1    Lennox, R.2
  • 51
    • 67651011782 scopus 로고    scopus 로고
    • A New Lease of Life for Thomson's Bonds Model of Intelligence
    • Bartholomew DJ, Deary IJ, Lawn M (2009) A New Lease of Life for Thomson's Bonds Model of Intelligence. Psychol Rev 166: 567-579.
    • (2009) Psychol Rev , vol.166 , pp. 567-579
    • Bartholomew, D.J.1    Deary, I.J.2    Lawn, M.3
  • 52
    • 68549130644 scopus 로고    scopus 로고
    • Dissecting the phenotype in genome-wide association studies of psychiatric illness
    • Craddock N, Kendler K, Neale MC, Numberger J, Purcell S, et al. (2009) Dissecting the phenotype in genome-wide association studies of psychiatric illness. Brit J Psychiat 195: 97-99.
    • (2009) Brit J Psychiat , vol.195 , pp. 97-99
    • Craddock, N.1    Kendler, K.2    Neale, M.C.3    Numberger, J.4    Purcell, S.5
  • 53
    • 74449085002 scopus 로고    scopus 로고
    • An integrated phenomic approach to multivariate allelic association
    • Medland S, Neale MC (2010) An integrated phenomic approach to multivariate allelic association. Eur J Hum Genet 18: 233-239.
    • (2010) Eur J Hum Genet , vol.18 , pp. 233-239
    • Medland, S.1    Neale, M.C.2
  • 54
    • 67649584052 scopus 로고    scopus 로고
    • Gene ontology analysis of GWA study data sets provides insight into the biology of bipolar disorder
    • Holmans P, Green EK, Pahwa JS, Ferreira MAR, Purcell SM, et al. (2009) Gene ontology analysis of GWA study data sets provides insight into the biology of bipolar disorder. Am J Hum Genet 85: 13-24.
    • (2009) Am J Hum Genet , vol.85 , pp. 13-24
    • Holmans, P.1    Green, E.K.2    Pahwa, J.S.3    Ferreira, M.A.R.4    Purcell, S.M.5
  • 55
    • 76049098158 scopus 로고    scopus 로고
    • Functional gene group analysis reveals a role of synaptic heterotrimeric G proteins in cognitive ability
    • Ruano D, Abecasis GR, Glaser B, Lips ES, Cornelisse LN, et al. (2010) Functional gene group analysis reveals a role of synaptic heterotrimeric G proteins in cognitive ability. Am J Hum Genet 86: 113-125.
    • (2010) Am J Hum Genet , vol.86 , pp. 113-125
    • Ruano, D.1    Abecasis, G.R.2    Glaser, B.3    Lips, E.S.4    Cornelisse, L.N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.