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Volumn 14, Issue 4, 2006, Pages 426-437

An utter refutation of the 'Fundamental Theorem of the HapMap'

Author keywords

Association studies; Correlation coefficients; HapMap; Linkage disequilibrium

Indexed keywords

DNA;

EID: 33645775067     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201583     Document Type: Article
Times cited : (125)

References (66)
  • 1
    • 0032403973 scopus 로고    scopus 로고
    • Linkage disequilibrium mapping of complex disease: Fantasy or reality?
    • Terwilliger JD, Weiss KM: Linkage disequilibrium mapping of complex disease: Fantasy or reality? Curr Opin Biotechnol 1998; 9: 578-594.
    • (1998) Curr Opin Biotechnol , vol.9 , pp. 578-594
    • Terwilliger, J.D.1    Weiss, K.M.2
  • 2
    • 0035220163 scopus 로고    scopus 로고
    • On the resolution and feasiblity of genome scanning approaches
    • Terwilliger JD: On the resolution and feasiblity of genome scanning approaches. Adv Genet 2001; 42: 351-391.
    • (2001) Adv Genet , vol.42 , pp. 351-391
    • Terwilliger, J.D.1
  • 3
    • 0242660361 scopus 로고    scopus 로고
    • Confounding, ascertainment bias, and the blind quest for a genetic 'fountain of youth'
    • Terwilliger JD, Weiss KM: Confounding, ascertainment bias, and the blind quest for a genetic 'fountain of youth'. Ann Med 2003; 35: 532-544.
    • (2003) Ann Med , vol.35 , pp. 532-544
    • Terwilliger, J.D.1    Weiss, K.M.2
  • 4
    • 0033780104 scopus 로고    scopus 로고
    • How many diseases does it take to map a gene with SNPs?
    • Weiss KM, Terwilliger JD: How many diseases does it take to map a gene with SNPs? Nat Genet 2000; 26: 151-157.
    • (2000) Nat Genet , vol.26 , pp. 151-157
    • Weiss, K.M.1    Terwilliger, J.D.2
  • 5
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Consortium: The International HapMap Project
    • The International HapMap Consortium: The International HapMap Project. Nature 2003; 426: 789-796.
    • (2003) Nature , vol.426 , pp. 789-796
  • 6
    • 0035546072 scopus 로고    scopus 로고
    • Genome-wide variation in the human and fruitfly: A comparison
    • Aquadro CF, DuMont VB, Reed FA: Genome-wide variation in the human and fruitfly: A comparison. Curr Opin Genet Dev 2001; 11: 627-634.
    • (2001) Curr Opin Genet Dev , vol.11 , pp. 627-634
    • Aquadro, C.F.1    DuMont, V.B.2    Reed, F.A.3
  • 7
    • 0034753547 scopus 로고    scopus 로고
    • Rethinking genetic strategies to study complex diseases
    • Brookes AJ: Rethinking genetic strategies to study complex diseases. Trends Mol Med 2001; 7: 512-516.
    • (2001) Trends Mol Med , vol.7 , pp. 512-516
    • Brookes, A.J.1
  • 8
    • 0035257236 scopus 로고    scopus 로고
    • Association study designs for complex diseases
    • Cardon LR, Bell JI: Association study designs for complex diseases. Nat Rev Genet 2001; 2: 91-99.
    • (2001) Nat Rev Genet , vol.2 , pp. 91-99
    • Cardon, L.R.1    Bell, J.I.2
  • 9
    • 0029875956 scopus 로고    scopus 로고
    • The geneticist's approach to complex disease
    • Ghosh S, Collins FS: The geneticist's approach to complex disease. Ann Rev Med 1996; 47: 333-353.
    • (1996) Ann Rev Med , vol.47 , pp. 333-353
    • Ghosh, S.1    Collins, F.S.2
  • 10
    • 0027485968 scopus 로고
    • The Human Genome Project and the future of medicine
    • Guyer MS, Collins FS: The Human Genome Project and the future of medicine. Am J Dis Children 1993; 147: 1145-1152.
    • (1993) Am J Dis Children , vol.147 , pp. 1145-1152
    • Guyer, M.S.1    Collins, F.S.2
  • 11
    • 0035094764 scopus 로고    scopus 로고
    • Variation is the spice of life
    • Kruglyak L, Nickerson DA: Variation is the spice of life. Nat Genet 2001; 27: 234-236.
    • (2001) Nat Genet , vol.27 , pp. 234-236
    • Kruglyak, L.1    Nickerson, D.A.2
  • 12
    • 0034969437 scopus 로고    scopus 로고
    • Are rare variants responsible for susceptibility to complex diseases?
    • Pritchard JK: Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001; 69: 124-137.
    • (2001) Am J Hum Genet , vol.69 , pp. 124-137
    • Pritchard, J.K.1
  • 13
    • 0036799545 scopus 로고    scopus 로고
    • The allelic architecture of human disease genes: Common disease-common variant or not?
    • Pritchard JK, Cox NJ: The allelic architecture of human disease genes: common disease-common variant or not? Hum Mol Genet 2002; 11: 2417-2423.
    • (2002) Hum Mol Genet , vol.11 , pp. 2417-2423
    • Pritchard, J.K.1    Cox, N.J.2
  • 14
    • 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
  • 16
    • 0036208832 scopus 로고    scopus 로고
    • Patterns of linkage disequilibrium in the human genome
    • Ardlie KG, Kruglyak L, Seielstad M: Patterns of linkage disequilibrium in the human genome. Nat Rev Genet 2002; 3: 299-309.
    • (2002) Nat Rev Genet , vol.3 , pp. 299-309
    • Ardlie, K.G.1    Kruglyak, L.2    Seielstad, M.3
  • 17
    • 0034930262 scopus 로고    scopus 로고
    • The relative power of SNPs and haplotype as genetic markers for association tests
    • Bader JS: The relative power of SNPs and haplotype as genetic markers for association tests. Pharmacogenomics 2001; 2: 11-24.
    • (2001) Pharmacogenomics , vol.2 , pp. 11-24
    • Bader, J.S.1
  • 18
    • 0034796890 scopus 로고    scopus 로고
    • The single-nucleotide polymorphism lottery: How useful are a few common SNPs in identifying disease-associated alleles?
    • Barton A, Chapman P, Myerscough A et al: The single-nucleotide polymorphism lottery: How useful are a few common SNPs in identifying disease-associated alleles? Genet Epidemiol 2001; 21: S384-S389.
    • (2001) Genet Epidemiol , vol.21
    • Barton, A.1    Chapman, P.2    Myerscough, A.3
  • 19
    • 0035045933 scopus 로고    scopus 로고
    • Population genomics: Genome-wide sampling of insect populations
    • Black WC, Baer CF, Antolin MF, DuTeau NM: Population genomics: genome-wide sampling of insect populations. Annu Rev Entomol 2001; 46: 441-469.
    • (2001) Annu Rev Entomol , vol.46 , pp. 441-469
    • Black, W.C.1    Baer, C.F.2    Antolin, M.F.3    DuTeau, N.M.4
  • 20
    • 0032231888 scopus 로고    scopus 로고
    • Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase
    • Clark AG, Weiss KM, Nickerson DA et al: Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet 1998; 63: 595-612.
    • (1998) Am J Hum Genet , vol.63 , pp. 595-612
    • Clark, A.G.1    Weiss, K.M.2    Nickerson, D.A.3
  • 21
    • 0035073185 scopus 로고    scopus 로고
    • Allelic association with SNPs: Metrics, populations, and the linkage disequilibrium map
    • Collins A, Ennis S, Taillon-Miller P, Kwok PY, Morton NE: Allelic association with SNPs: Metrics, populations, and the linkage disequilibrium map. Hum Mutat 2001; 17: 255-262.
    • (2001) Hum Mutat , vol.17 , pp. 255-262
    • Collins, A.1    Ennis, S.2    Taillon-Miller, P.3    Kwok, P.Y.4    Morton, N.E.5
  • 22
    • 33646171639 scopus 로고    scopus 로고
    • The extent and distribution of linkage disequilibrium: Problems for SNP mappers
    • Cookson W: The extent and distribution of linkage disequilibrium: problems for SNP mappers. J Med Genet 2001; 38: SP3.
    • (2001) J Med Genet , vol.38
    • Cookson, W.1
  • 24
    • 0033646621 scopus 로고    scopus 로고
    • The extent of linkage disequilibrium in four populations with distinct demographic histories
    • Dunning AM, Durocher F, Healey CS et al: The extent of linkage disequilibrium in four populations with distinct demographic histories. Am J Hum Genet 2000; 67: 1544-1554.
    • (2000) Am J Hum Genet , vol.67 , pp. 1544-1554
    • Dunning, A.M.1    Durocher, F.2    Healey, C.S.3
  • 25
    • 0035943090 scopus 로고    scopus 로고
    • Population genomics: Linkage disequilibrium holds the key
    • Goldstein DB, WLale ME: Population genomics: linkage disequilibrium holds the key. Curr Biol 2001; 11: R576-R579.
    • (2001) Curr Biol , vol.11
    • Goldstein, D.B.1    Weale, M.E.2
  • 26
    • 0034789532 scopus 로고    scopus 로고
    • Haplotype tagging for the identification of common disease genes
    • Johnson GCL, Esposito L, Barratt BJ et al: Haplotype tagging for the identification of common disease genes. Nat Genet 2001; 29: 233-237.
    • (2001) Nat Genet , vol.29 , pp. 233-237
    • Johnson, G.C.L.1    Esposito, L.2    Barratt, B.J.3
  • 27
    • 0035474085 scopus 로고    scopus 로고
    • Population genomics: A bridge from evolutionary history to genetic medicine
    • Jorde LB, WatkiAs WS, Bamshad MJ: Population genomics: a bridge from evolutionary history to genetic medicine. Hum Mol Genet 2001; 10: 2199-2207.
    • (2001) Hum Mol Genet , vol.10 , pp. 2199-2207
    • Jorde, L.B.1    Watkins, W.S.2    Bamshad, M.J.3
  • 29
    • 0037133218 scopus 로고    scopus 로고
    • The first linkage disequilibrium (LD) maps: Delineation of hot and cold blocks by diplotype analysis
    • Maniatis N, Collins A, Xu CF et al: The first linkage disequilibrium (LD) maps: Delineation of hot and cold blocks by diplotype analysis. Proc Natl Acad Sci USA 2002; 99: 2228-2233.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 2228-2233
    • Maniatis, N.1    Collins, A.2    Xu, C.F.3
  • 30
    • 33646166684 scopus 로고    scopus 로고
    • When is haplotype analysis advantageous for linkage-disequilibrium mapping?
    • Morris RW, Kaplan NL: When is haplotype analysis advantageous for linkage-disequilibrium mapping? Am J Hum Genet 2001; 69: 30.
    • (2001) Am J Hum Genet , vol.69 , pp. 30
    • Morris, R.W.1    Kaplan, N.L.2
  • 32
    • 0034977045 scopus 로고    scopus 로고
    • Linkage disequilibrium in humans: Models and data
    • Pritchard JK, Przeworski M: Minkage disequilibrium in humans: models and data. Am J Hum Genet 2001; 69: 1-14.
    • (2001) Am J Hum Genet , vol.69 , pp. 1-14
    • Pritchard, J.K.1    Przeworski, M.2
  • 33
    • 0035949653 scopus 로고    scopus 로고
    • Structure of linkage disequilibrium and phenotypic associations in the maize genome
    • Remington DL, Thornsberry JM, Matsuoka Y et al: Structure of linkage disequilibrium and phenotypic associations in the maize genome. Proc Natl Acad Sci USA 2001; 98: 11479-11484.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 11479-11484
    • Remington, D.L.1    Thornsberry, J.M.2    Matsuoka, Y.3
  • 34
    • 0035283148 scopus 로고    scopus 로고
    • The genome-wide distribution of background linkage disequilibrium in a population isolate
    • Service SK, Ophoff RA, Freimer NB: The genome-wide distribution of background linkage disequilibrium in a population isolate. Hum Mol Genet 2001; 10: 545-551.
    • (2001) Hum Mol Genet , vol.10 , pp. 545-551
    • Service, S.K.1    Ophoff, R.A.2    Freimer, N.B.3
  • 35
    • 0033915978 scopus 로고    scopus 로고
    • The effect of marker characteristics on the power to detect linkage disequilibrium due to single or multiple ancestral mutations
    • Sham PC, Zhao JH, Curtis D: The effect of marker characteristics on the power to detect linkage disequilibrium due to single or multiple ancestral mutations. Ann Hum Genet 2000; 64: 161-169.
    • (2000) Ann Hum Genet , vol.64 , pp. 161-169
    • Sham, P.C.1    Zhao, J.H.2    Curtis, D.3
  • 36
    • 0035919656 scopus 로고    scopus 로고
    • Haplotype variation and linkage disequilibrium in 313 human genes
    • Stephens JC, Schneider JA, Tanguay DA et al: Haplotype variation and linkage disequilibrium in 313 human genes. Science 2001; 293: 489-493.
    • (2001) Science , vol.293 , pp. 489-493
    • Stephens, J.C.1    Schneider, J.A.2    Tanguay, D.A.3
  • 38
    • 0033869708 scopus 로고    scopus 로고
    • Peltonen L: Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo
    • Varilo T, Laan M, Hovatta I, Wiebe V, Terwilliger JD, Peltonen L: Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo. Eur J Hum Genet 2000; 8: 604-612.
    • (2000) Eur J Hum Genet , vol.8 , pp. 604-612
    • Varilo, T.1    Laan, M.2    Hovatta, I.3    Wiebe, V.4    Terwilliger, J.D.5
  • 39
    • 33646199125 scopus 로고    scopus 로고
    • The interval of linkage disequilibrium (LD) detected with multiallelic and biallelic markers in chromosomes of early and late settlement regions of Finland
    • Varilo T, Paunio T, Parker A et al: The interval of linkage disequilibrium (LD) detected with multiallelic and biallelic markers in chromosomes of early and late settlement regions of Finland, 2002.
    • (2002)
    • Varilo, T.1    Paunio, T.2    Parker, A.3
  • 40
    • 0036137130 scopus 로고    scopus 로고
    • Linkage disequilibrium and the mapping of complex human traits
    • Weiss KM, Clark AG: Linkage disequilibrium and the mapping of complex human traits. Trends Genet 2002; 18: 19-24.
    • (2002) Trends Genet , vol.18 , pp. 19-24
    • Weiss, K.M.1    Clark, A.G.2
  • 42
    • 0035779379 scopus 로고    scopus 로고
    • Human population genetics: Lessons from Finland
    • Kere J: Human population genetics: Lessons from Finland. Annu Rev Genomics Hum Genet 2001; 2: 103-128.
    • (2001) Annu Rev Genomics Hum Genet , vol.2 , pp. 103-128
    • Kere, J.1
  • 43
    • 0034574603 scopus 로고    scopus 로고
    • Use of population isolates for mapping complex traits
    • Peltonen L, Palotie A, Lange K: Use of population isolates for mapping complex traits. Nat Rev Genet 2000; 1: 182-190.
    • (2000) Nat Rev Genet , vol.1 , pp. 182-190
    • Peltonen, L.1    Palotie, A.2    Lange, K.3
  • 44
    • 0035528928 scopus 로고    scopus 로고
    • Case-control studies of association in structured or admixed populations
    • Pritchard JK, Donnelly P: Case-control studies of association in structured or admixed populations. Theor Popul Biol 2001; 60: 227-237.
    • (2001) Theor Popul Biol , vol.60 , pp. 227-237
    • Pritchard, J.K.1    Donnelly, P.2
  • 46
    • 0035776760 scopus 로고    scopus 로고
    • Human genetics: Lessons from Quebec populations
    • Scriver CR: Human genetics: Lessons from Quebec populations. Annu Rev Genomics Hum Genet 2001; 2: 69-101.
    • (2001) Annu Rev Genomics Hum Genet , vol.2 , pp. 69-101
    • Scriver, C.R.1
  • 47
    • 33646169277 scopus 로고    scopus 로고
    • Natural experiments in human gene mapping
    • Craford MH (ed): Cambridge: Cambridge University Press
    • Terwilliger JD, Lee JH: Natural experiments in human gene mapping. In: Craford MH (ed): Anthropol Genet. Cambridge: Cambridge University Press, 2005.
    • (2005) Anthropol Genet
    • Terwilliger, J.D.1    Lee, J.H.2
  • 49
    • 0031946381 scopus 로고    scopus 로고
    • Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'Drift mapping' in small populations with no demographic expansion
    • Terwilliger JD, Zollner S, Laan M, Paabo S: Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'drift mapping' in small populations with no demographic expansion. Hum Heredity 1998; 48: 138-154.
    • (1998) Hum Heredity , vol.48 , pp. 138-154
    • Terwilliger, J.D.1    Zollner, S.2    Laan, M.3    Paabo, S.4
  • 50
    • 0032707163 scopus 로고    scopus 로고
    • Population choice in mapping genes for complex diseases
    • Wright AF, Carothers AD, Pirastu M: Population choice in mapping genes for complex diseases. Nat Genet 1999; 23: 397-404.
    • (1999) Nat Genet , vol.23 , pp. 397-404
    • Wright, A.F.1    Carothers, A.D.2    Pirastu, M.3
  • 52
    • 0023796209 scopus 로고
    • On Measures of Gametic Disequilibrium
    • Lewontin RC: On Measures of Gametic Disequilibrium. Genetics 1988; 120: 849-852.
    • (1988) Genetics , vol.120 , pp. 849-852
    • Lewontin, R.C.1
  • 53
    • 18444369013 scopus 로고    scopus 로고
    • The structure of haplotype blocks in the human genome
    • Gabriel SB, Schaffner SF, Nguyen H et al: The structure of haplotype blocks in the human genome. Science 2002; 296: 2225-2229.
    • (2002) Science , vol.296 , pp. 2225-2229
    • Gabriel, S.B.1    Schaffner, S.F.2    Nguyen, H.3
  • 54
    • 0034977045 scopus 로고    scopus 로고
    • Linkage disequilibrium in humans: Models and data
    • Pritchard JK, Przeworski M: Minkage disequilibrium in humans: models and data. Am J Hum Genet 2001; 69: 1-14.
    • (2001) Am J Hum Genet , vol.69 , pp. 1-14
    • Pritchard, J.K.1    Przeworski, M.2
  • 55
    • 0042736890 scopus 로고    scopus 로고
    • Gender differences in drinking patterns in nine european countries: Descriptive findings
    • Ahlstrom S, Bloomfield K, Knibbe R: Gender differences in drinking patterns in nine european countries: Descriptive findings. Subst Abus 2001; 22: 69-85.
    • (2001) Subst Abus , vol.22 , pp. 69-85
    • Ahlstrom, S.1    Bloomfield, K.2    Knibbe, R.3
  • 56
    • 0032991552 scopus 로고    scopus 로고
    • Characterization of single-nucleotide polymorphisms in coding regions of human genes
    • Cargill M, Altshuler D, Ireland J et al: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999; 22: 231-238.
    • (1999) Nat Genet , vol.22 , pp. 231-238
    • Cargill, M.1    Altshuler, D.2    Ireland, J.3
  • 57
    • 13844321681 scopus 로고    scopus 로고
    • Genetics harvesting medical information from the human family tree
    • Altshuler D, Clark AG: Genetics harvesting medical information from the human family tree. Science 2005; 307: 1052-1053.
    • (2005) Science , vol.307 , pp. 1052-1053
    • Altshuler, D.1    Clark, A.G.2
  • 58
    • 33646172901 scopus 로고    scopus 로고
    • The nature and distribution of human genetic disease
    • Chakravarti A: The nature and distribution of human genetic disease. Am Naturalist 2001; 158: 12.
    • (2001) Am Naturalist , vol.158 , pp. 12
    • Chakravarti, A.1
  • 59
    • 0035865070 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms to a future of genetic medicine
    • Chakravarti A: Single nucleotide polymorphisms to a future of genetic medicine. Nature 2001; 409: 822-823.
    • (2001) Nature , vol.409 , pp. 822-823
    • Chakravarti, A.1
  • 61
    • 0033942602 scopus 로고    scopus 로고
    • Linkage analysis in the presence of errors I: Complex-valued recombination fractions and complex phenotypes
    • Goring HHH, Terwilliger JD: Linkage analysis in the presence of errors I: Complex-valued recombination fractions and complex phenotypes. Am J Hum Genet 2000; 66: 1095-1106.
    • (2000) Am J Hum Genet , vol.66 , pp. 1095-1106
    • Goring, H.H.H.1    Terwilliger, J.D.2
  • 62
    • 0033942718 scopus 로고    scopus 로고
    • Linkage analysis in the presence of errors II: Marker-locus genotyping errors modeled with hyper-complex recombination fractions
    • Goring HHH, Terwilliger JD: Linkage analysis in the presence of errors II: Marker-locus genotyping errors modeled with hyper-complex recombination fractions. Am J Hum Genet 2000; 66: 1107-1118.
    • (2000) Am J Hum Genet , vol.66 , pp. 1107-1118
    • Goring, H.H.H.1    Terwilliger, J.D.2
  • 63
    • 0034164617 scopus 로고    scopus 로고
    • Linkage analysis in the presence of errors III: Marker loci and their map as nuisance parameters
    • Goring HHH, Terwilliger JD: Linkage analysis in the presence of errors III: Marker loci and their map as nuisance parameters. Am J Hum Genet 2000; 66: 1298-1309.
    • (2000) Am J Hum Genet , vol.66 , pp. 1298-1309
    • Goring, H.H.H.1    Terwilliger, J.D.2
  • 64
    • 0000874908 scopus 로고    scopus 로고
    • Linkage analysis in the presence of errors IV: Joint pseudomarker analysis of linkage and/or linkage disequilibrium on a mixture of pedigrees and singletons when the mode of inheritance cannot be accurately specified
    • Goring HHH, Terwilliger JD: Linkage analysis in the presence of errors IV: Joint pseudomarker analysis of linkage and/or linkage disequilibrium on a mixture of pedigrees and singletons when the mode of inheritance cannot be accurately specified. Am J Hum Genet 2000; 66: 1310-1327.
    • (2000) Am J Hum Genet , vol.66 , pp. 1310-1327
    • Goring, H.H.H.1    Terwilliger, J.D.2
  • 65
    • 0034123512 scopus 로고    scopus 로고
    • A likelihood-based extended admixture model of oligogenic inheritance in 'model-based' and 'model-free' analysis
    • Terwilliger JD: A likelihood-based extended admixture model of oligogenic inheritance in 'model-based' and 'model-free' analysis. Eur J Hum Genet 2000; 8: 399-406.
    • (2000) Eur J Hum Genet , vol.8 , pp. 399-406
    • Terwilliger, J.D.1
  • 66
    • 0343158231 scopus 로고    scopus 로고
    • Gene mapping in the 20th and 21st centuries: Statistical methods, data analysis, and experimental design
    • Terwilliger JD, Goring HHH: Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design. Hum Biol 2000; 72: 63-132.
    • (2000) Hum Biol , vol.72 , pp. 63-132
    • Terwilliger, J.D.1    Goring, H.H.H.2


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