메뉴 건너뛰기




Volumn 6, Issue 2, 2005, Pages 109-118

Genome-wide association studies: Theoretical and practical concerns

Author keywords

[No Author keywords available]

Indexed keywords

ALLELIC ARCHITECTURE; ALLELIC EXCLUSION; ALLELIC VARIATION; COST EFFECTIVENESS ANALYSIS; DISEASE PREDISPOSITION; EPIDEMIOLOGY; EPISTASIS; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME; GENOME SEQUENCE; GENOME WIDE ASSOCIATION STUDY; GENOTYPE; PRIORITY JOURNAL; REVIEW; SAMPLE SIZE; SAMPLING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 13144265739     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/nrg1522     Document Type: Review
Times cited : (951)

References (104)
  • 1
    • 0037442235 scopus 로고    scopus 로고
    • Genetic associations in large versus small studies: An empirical assessment
    • Ioannidis, J. P., Trikalinos, T. A., Ntzani, E. E. & Contopoulosloannidis, D. G. Genetic associations in large versus small studies: an empirical assessment. Lancet 361, 567-571 (2003).
    • (2003) Lancet , vol.361 , pp. 567-571
    • Ioannidis, J.P.1    Trikalinos, T.A.2    Ntzani, E.E.3    Contopoulosloannidis, D.G.4
  • 2
    • 0037312921 scopus 로고    scopus 로고
    • Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease
    • Lohmueller, K. E., Pearce, C. L., Pike, M., Lander, E. S. & Hirschhorn, J. N. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nature Genet. 33, 177-182 (2003).
    • (2003) Nature 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
  • 3
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • Hirschhorn, J. N. & Daly, M. J. Genome-wide association studies for common diseases and complex traits. Nature Rev. Genet. 6, 95-108 (2005). A review of the issues that are involved in the design of large-scale association mapping, including marker selection and sources of false-positive and false-negative results.
    • (2005) Nature Rev. Genet. , vol.6 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 4
    • 0029286310 scopus 로고
    • Towards fully automated genome-wide polymorphism screening
    • Livak, K. J., Marmaro, J. & Todd, J. A. Towards fully automated genome-wide polymorphism screening. Nature Genet 9, 341-342 (1995).
    • (1995) Nature Genet. , vol.9 , pp. 341-342
    • Livak, K.J.1    Marmaro, J.2    Todd, J.A.3
  • 5
    • 0035941029 scopus 로고    scopus 로고
    • Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21
    • Patil, N. et al. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294, 1719-1723 (2001).
    • (2001) Science , vol.294 , pp. 1719-1723
    • Patil, N.1
  • 6
    • 0035654137 scopus 로고    scopus 로고
    • Accessing genetic variation: Gene-typing single nucleotide polymorphisms
    • Syvanen, A. C. Accessing genetic variation: gene-typing single nucleotide polymorphisms. Nature Rev. Genet. 2, 930-942 (2001).
    • (2001) Nature Rev. Genet. , vol.2 , pp. 930-942
    • Syvanen, A.C.1
  • 8
    • 0037685262 scopus 로고    scopus 로고
    • Multiplexed gene-typing with sequence-tagged molecular inversion probes
    • Hardenbol, P. et al. Multiplexed gene-typing with sequence-tagged molecular inversion probes. Nature Biotechnol. 21, 673-678 (2003).
    • (2003) Nature Biotechnol. , vol.21 , pp. 673-678
    • Hardenbol, P.1
  • 9
    • 2542498792 scopus 로고    scopus 로고
    • Localization and identification of human quantitative trait loci: King Harvest has surely come
    • Blangero, J. Localization and identification of human quantitative trait loci: King Harvest has surely come. Curr. Opin. Genet. Dev. 14, 233-240 (2004).
    • (2004) Curr. Opin. Genet. Dev. , vol.14 , pp. 233-240
    • Blangero, J.1
  • 10
    • 0242660361 scopus 로고    scopus 로고
    • Confounding, ascertainment bias, and the blind quest for a genetic 'fountain of youth'
    • Terwilliger, J. D. & Weiss, K. M. Confounding, ascertainment bias, and the blind quest for a genetic 'fountain of youth'. Ann. Med. 35, 532-544 (2003).
    • (2003) Ann. Med. , vol.35 , pp. 532-544
    • Terwilliger, J.D.1    Weiss, K.M.2
  • 11
    • 0037224762 scopus 로고    scopus 로고
    • Association mapping of complex diseases in linked regions: Estimation of genetic effects and feasibility of testing rare variants
    • Wang, W. Y., Cordell, H. J. & Todd, J. A. Association mapping of complex diseases in linked regions: estimation of genetic effects and feasibility of testing rare variants. Genet. Epidemiol. 24, 36-43 (2003).
    • (2003) Genet. Epidemiol. , vol.24 , pp. 36-43
    • Wang, W.Y.1    Cordell, H.J.2    Todd, J.A.3
  • 13
    • 0034758045 scopus 로고    scopus 로고
    • Genomewide scans of complex human diseases: True linkage is hard to find
    • Altmuller, J., Palmer, L. J., Fischer, G., Scherb, H. & Wjst, M. Genomewide scans of complex human diseases: true linkage is hard to find. Am. J. Hum. Genet. 69, 936-950 (2001). This is an analyses of 101 linkage studies. It demonstrates the difficulties in achieving significant linkage, and argues for a need for larger sample sizes.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 936-950
    • Altmuller, J.1    Palmer, L.J.2    Fischer, G.3    Scherb, H.4    Wjst, M.5
  • 14
    • 4143134235 scopus 로고    scopus 로고
    • The future of association studies: Gene-based analysis and reolication
    • Neale, B. M. & Sham, P. C. The future of association studies: gene-based analysis and reolication. Am. J. Hum. Genet. 75, 353-362 (2004). A review of the design of association-mapping strategies. It argues for changing the focus from SNPs to genomic regions, and outlines strategies to achieve this.
    • (2004) Am. J. Hum. Genet. , vol.75 , pp. 353-362
    • Neale, B.M.1    Sham, P.C.2
  • 15
    • 18444369013 scopus 로고    scopus 로고
    • The structure of haplotype blocks in the human genome
    • Gabriel, S, B. et al. The structure of haplotype blocks in the human genome. Science 296, 2225-2229 (2002).
    • (2002) Science , vol.296 , pp. 2225-2229
    • Gabriel, S.B.1
  • 16
    • 18444396271 scopus 로고    scopus 로고
    • A first-generation linkage disequilibrium map of human chromosome 22
    • Dawson, E. et al. A first-generation linkage disequilibrium map of human chromosome 22. Nature 418, 544-548 (2002).
    • (2002) Nature , vol.418 , pp. 544-548
    • Dawson, E.1
  • 17
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Project
    • International HapMap Consortium. The International HapMap Project. Nature 426, 789-796 (2003). This paper outlines the International HapMap Project, which is currently in progress, and will provide SNP maps, LD information and tag SNPs throughout the genome for different human populations.
    • (2003) Nature , vol.426 , pp. 789-796
  • 18
    • 2142773942 scopus 로고    scopus 로고
    • The fine-scale structure of recombination rate variation in the human genome
    • McVean, G. A. et al. The fine-scale structure of recombination rate variation in the human genome. Science 304, 581-584 (2004).
    • (2004) Science , vol.304 , pp. 581-584
    • McVean, G.A.1
  • 19
    • 0034789532 scopus 로고    scopus 로고
    • Haplotype tagging for the identification of common disease genes
    • Johnson, G. C. et al. Haplotype tagging for the identification of common disease genes. Nature Genet. 29, 233-237 (2001). The authors introduce the concept of tag SNPs based on LD to minimize laboratory effort for SNP genotyping in association analyses.
    • (2001) Nature Genet. , vol.29 , pp. 233-237
    • Johnson, G.C.1
  • 20
    • 0035451780 scopus 로고    scopus 로고
    • On the allelic spectrum of human disease
    • Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. Trends Genet 17, 502-510 (2001).
    • (2001) Trends Genet. , vol.17 , pp. 502-510
    • Reich, D.E.1    Lander, E.S.2
  • 21
    • 0036799545 scopus 로고    scopus 로고
    • The allelic architecture of human disease genes: Common disease-common variant...or not?
    • Pritchard, J. K. & Cox, N. J. The allelic architecture of human disease genes: common disease-common variant...or not? Hum. Mol. Genet. 11, 2417-2423 (2002).
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2417-2423
    • Pritchard, J.K.1    Cox, N.J.2
  • 22
    • 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 273, 1516-1517 (1996). This paper showed in explicit terms the greater power of whole-genome association studies over affected sib-pair linkage for the mapping of common diseases.
    • (1996) Science , vol.273 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 23
    • 18544380387 scopus 로고    scopus 로고
    • Parameters for reliable results in genetic association studies in common disease
    • Dahlman, I. et al. Parameters for reliable results in genetic association studies in common disease. Nature Genet. 30, 149-150 (2002).
    • (2002) Nature Genet. , vol.30 , pp. 149-150
    • Dahlman, I.1
  • 24
    • 6944252244 scopus 로고    scopus 로고
    • The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology
    • Freimer, N. & Sabatti, C. The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology. Nature Genet. 36, 1045-1051 (2004). A clear and unbiased review of the main current genetic mapping strategies that discusses analyses using extended pedigrees, affected sib-pairs and association.
    • (2004) Nature Genet. , vol.36 , pp. 1045-1051
    • Freimer, N.1    Sabatti, C.2
  • 25
    • 3242768295 scopus 로고    scopus 로고
    • Cost-effective analysis of candidate genes using htSNPs: A staged approach
    • Lowe, C. E. et al. Cost-effective analysis of candidate genes using htSNPs: a staged approach. Genes Immun. 5, 301-305 (2004).
    • (2004) Genes Immun. , vol.5 , pp. 301-305
    • Lowe, C.E.1
  • 26
    • 0036798007 scopus 로고    scopus 로고
    • The allelic structure of common disease
    • Smith, D. J. & Lusis, A. J. The allelic structure of common disease. Hum. Mol. Genet. 11, 2455-2461 (2002).
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2455-2461
    • Smith, D.J.1    Lusis, A.J.2
  • 27
    • 84971185409 scopus 로고
    • Correlation between relatives on the supposition of Mendelian inheritance
    • Fisher, R. A. Correlation between relatives on the supposition of Mendelian inheritance. Trans. R. Soc. Edinb: 52, 399-433 (1918).
    • (1918) Trans. R. Soc. Edinb. , vol.52 , pp. 399-433
    • Fisher, R.A.1
  • 28
    • 0034927358 scopus 로고    scopus 로고
    • The genetic epidemiology of cancer: Interpreting family and twin studies and their implications for molecular genetic approaches
    • Risch, N. The genetic epidemiology of cancer: interpreting family and twin studies and their implications for molecular genetic approaches. Cancer Epidemiol. Biomarkers Prev. 10, 733-741 (2001).
    • (2001) Cancer Epidemiol. Biomarkers Prev. , vol.10 , pp. 733-741
    • Risch, N.1
  • 29
    • 0034972487 scopus 로고    scopus 로고
    • Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height
    • Hirschhorn, J. N. et al. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Am. J. Hum. Genet. 69, 106-116 (2001).
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 106-116
    • Hirschhorn, J.N.1
  • 30
    • 0025094344 scopus 로고
    • Mapping genes in diabetes. Genetic epidemiological perspective
    • Rich, S. S. Mapping genes in diabetes. Genetic epidemiological perspective. Diabetes 39, 1315-1319 (1990).
    • (1990) Diabetes , vol.39 , pp. 1315-1319
    • Rich, S.S.1
  • 31
    • 0034969437 scopus 로고    scopus 로고
    • Are rare variants responsible for susceptibility to complex diseases?
    • Pritchard, J. K. Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet. 69, 124-137 (2001).
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 124-137
    • Pritchard, J.K.1
  • 32
    • 0035978779 scopus 로고    scopus 로고
    • Human genetics. Tackling common disease
    • Todd, J. A. Human genetics. Tackling common disease. Nature 411, 537-539 (2001).
    • (2001) Nature , vol.411 , pp. 537-539
    • Todd, J.A.1
  • 33
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • Cohen, J. C. et al. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305, 869-872 (2004).
    • (2004) Science , vol.305 , pp. 869-872
    • Cohen, J.C.1
  • 34
    • 0027194791 scopus 로고
    • Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
    • Corder, E. H. et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261, 921-923 (1993).
    • (1993) Science , vol.261 , pp. 921-923
    • Corder, E.H.1
  • 35
    • 0021343570 scopus 로고
    • A polymorphic locus near the human insulin gene is associated with insulin-dependent Diabetes mellitus
    • Bell, G. I., Horita, S. & Karam, J. H. A polymorphic locus near the human insulin gene is associated with insulin-dependent Diabetes mellitus. Diabetes 33, 176-183 (1984).
    • (1984) Diabetes , vol.33 , pp. 176-183
    • Bell, G.I.1    Horita, S.2    Karam, J.H.3
  • 36
    • 0037648405 scopus 로고    scopus 로고
    • Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
    • Ueda, H. et al., Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423, 506-511 (2003).
    • (2003) Nature , vol.423 , pp. 506-511
    • Ueda, H.1
  • 37
    • 0035978651 scopus 로고    scopus 로고
    • Association of NOD2 leudne-rich repeat variants with susceptibility to Crohn's disease
    • Hugot, J. R et al. Association of NOD2 leudne-rich repeat variants with susceptibility to Crohn's disease. Nature 411, 599-603. (2001).
    • (2001) Nature , vol.411 , pp. 599-603
    • Hugot, J.R.1
  • 38
    • 0035978533 scopus 로고    scopus 로고
    • A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
    • Ogura, Y. et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411, 603-606 (2001).
    • (2001) Nature , vol.411 , pp. 603-606
    • Ogura, Y.1
  • 39
    • 0032827782 scopus 로고    scopus 로고
    • The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits
    • Long, A. D. & Langley, C. H. The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits. Genome Res. 9, 720-731 (1999).
    • (1999) Genome Res. , vol.9 , pp. 720-731
    • Long, A.D.1    Langley, C.H.2
  • 40
    • 7944220775 scopus 로고    scopus 로고
    • The allelic spectra of common diseases may resemble the allelic spectrum of the full genome
    • Wang, W. Y. & Pike, N. The allelic spectra of common diseases may resemble the allelic spectrum of the full genome. Med. Hypotheses 63, 748-751 (2004).
    • (2004) Med. Hypotheses , vol.63 , pp. 748-751
    • Wang, W.Y.1    Pike, N.2
  • 41
    • 0035094764 scopus 로고    scopus 로고
    • Variation is the spice of life
    • Kruglyak, L. & Nickerson, D. A. Variation is the spice of life. Nature Genet. 27, 234-236 (2001). Using a neutral coalescence model, this article estimates the frequency distribution of SNPs in the human genome.
    • (2001) Nature Genet. , vol.27 , pp. 234-236
    • Kruglyak, L.1    Nickerson, D.A.2
  • 42
    • 0037373275 scopus 로고    scopus 로고
    • Discovering genotypes underlying human phenotypes: Past successes for Mendelian disease, future approaches for complex disease
    • Botstein, D. & Risch, N. Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nature Genet. 33, 228-237 (2003).
    • (2003) Nature Genet. , vol.33 , pp. 228-237
    • Botstein, D.1    Risch, N.2
  • 43
    • 0038392950 scopus 로고    scopus 로고
    • Finding genes underlying risk of complex disease by linkage disequilibrium mapping
    • Clark, A. G. Finding genes underlying risk of complex disease by linkage disequilibrium mapping. Curr. Opin. Genet. Dev. 13, 296-302 (2003).
    • (2003) Curr. Opin. Genet. Dev. , vol.13 , pp. 296-302
    • Clark, A.G.1
  • 44
    • 70349566593 scopus 로고
    • Diabetes mellitus: A 'thrifty' genotype rendered detrimental by 'progress'?
    • Neel, J. V. Diabetes mellitus: a 'thrifty' genotype rendered detrimental by 'progress'? Am. J. Hum, Genet. 14, 353-362 (1962).
    • (1962) Am. J. Hum. Genet. , vol.14 , pp. 353-362
    • Neel, J.V.1
  • 45
    • 0344091561 scopus 로고    scopus 로고
    • Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans
    • Carlson, C. S. et al. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nature Genet. 33, 518-521 (2003).
    • (2003) Nature Genet. , vol.33 , pp. 518-521
    • Carlson, C.S.1
  • 46
    • 0141678044 scopus 로고    scopus 로고
    • Haplotype sharing refines the location of an imprinted quantitative trait locus with major effect on muscle mass to a 250-kb chromosome segment containing the porcine IGF2 gene
    • Nezer, C. et al. Haplotype sharing refines the location of an imprinted quantitative trait locus with major effect on muscle mass to a 250-kb chromosome segment containing the porcine IGF2 gene. Genetics 165, 227-285 (2003).
    • (2003) Genetics , vol.165 , pp. 227-285
    • Nezer, C.1
  • 47
    • 0029982537 scopus 로고    scopus 로고
    • Genetic analysis of autoimmune disease
    • Vyse, T. J. & Todd, J. A. Genetic analysis of autoimmune disease. Cell 85, 311-318 (1996).
    • (1996) Cell , vol.85 , pp. 311-318
    • Vyse, T.J.1    Todd, J.A.2
  • 48
    • 0004669354 scopus 로고
    • (ed Lewontin, R. C.) (Syracuse Univ. Press, New York)
    • Robertson, A. in Population Biology and Evolution (ed. Lewontin, R. C.) 265-280 (Syracuse Univ. Press, New York, 1967).
    • (1967) Population Biology and Evolution , pp. 265-280
    • Robertson, A.1
  • 49
    • 0026074820 scopus 로고
    • Mendelian factors underlying quantitative traits in tomato: Comparison across species, generations, and environments
    • Paterson, A. H. et al. Mendelian factors underlying quantitative traits in tomato: comparison across species, generations, and environments. Genetics 127, 181-197 (1991).
    • (1991) Genetics , vol.127 , pp. 181-197
    • Paterson, A.H.1
  • 50
    • 0026525956 scopus 로고
    • Effects of P element insertions on quantitative traits in Drosophila melanogaster
    • Mackay, T. F., Lyman, R. F. & Jackson, M. S. Effects of P element insertions on quantitative traits in Drosophila melanogaster. Genetics 130, 315-332 (1992).
    • (1992) Genetics , vol.130 , pp. 315-332
    • Mackay, T.F.1    Lyman, R.F.2    Jackson, M.S.3
  • 51
    • 0034957069 scopus 로고    scopus 로고
    • The distribution of the effects of genes affecting quantitative traits in livestock
    • Hayes, B, & Goddard, M. E. The distribution of the effects of genes affecting quantitative traits in livestock. Genet. Sel. Evol. 33, 209-229 (2001).
    • (2001) Genet. Sel. Evol. , vol.33 , pp. 209-229
    • Hayes, B.1    Goddard, M.E.2
  • 52
    • 0036245475 scopus 로고    scopus 로고
    • Understanding quantitative genetic variation
    • Barton, N. H. & Keightley, P. D. Understanding quantitative genetic variation. Nature Rev. Genet. 3, 11-21 (2002).
    • (2002) Nature Rev. Genet. , vol.3 , pp. 11-21
    • Barton, N.H.1    Keightley, P.D.2
  • 54
    • 0027428494 scopus 로고
    • Statistical evaluation of multiple-locus linkage data in experimental species and its relevance to human studies: Application to nonobese diabetic (WOD) mouse and human insulin-dependent Diabetes mellitus (IDDM)
    • Risch, N., Ghosh, S. & Todd, J. A. Statistical evaluation of multiple-locus linkage data in experimental species and its relevance to human studies: application to nonobese diabetic (WOD) mouse and human insulin-dependent Diabetes mellitus (IDDM). Am. J. Hum. Genet. 53, 702-714 (1993).
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 702-714
    • Risch, N.1    Ghosh, S.2    Todd, J.A.3
  • 56
    • 0031714655 scopus 로고    scopus 로고
    • The population genetics of adaptation: The distribution of factors fixed during adaptive evolution
    • Orr, H. A. The population genetics of adaptation: the distribution of factors fixed during adaptive evolution. Evolution 52, 935-949 (1998).
    • (1998) Evolution , vol.52 , pp. 935-949
    • Orr, H.A.1
  • 57
    • 1942467065 scopus 로고    scopus 로고
    • Genomic variants in exons and introns: Identifying the splicing spoilers
    • Pagani, F. & Baralle, F. E. Genomic variants in exons and introns: identifying the splicing spoilers. Nature Rev. Genet. 5, 389-396 (2004).
    • (2004) Nature Rev. Genet. , vol.5 , pp. 389-396
    • Pagani, F.1    Baralle, F.E.2
  • 58
    • 0042359360 scopus 로고    scopus 로고
    • Functional analysis of human promoter polymorphisms
    • Hoogendoorn, B. et al. Functional analysis of human promoter polymorphisms. Hum. Mol. Genet. 12, 2249-2254 (2003).
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2249-2254
    • Hoogendoorn, B.1
  • 59
    • 0012789869 scopus 로고    scopus 로고
    • Allelic variation in gene expression is common in the human genome
    • Lo, H. S. et al. Allelic variation in gene expression is common in the human genome. Genome Res. 13, 1855-1862 (2003).
    • (2003) Genome Res. , vol.13 , pp. 1855-1862
    • Lo, H.S.1
  • 60
    • 10744220764 scopus 로고    scopus 로고
    • Susceptibility to leprosy is associated with PARK2 and PACRG
    • Mira, M. T et al. Susceptibility to leprosy is associated with PARK2 and PACRG. Nature 427, 636-640 (2004).
    • (2004) Nature , vol.427 , pp. 636-640
    • Mira, M.T.1
  • 61
    • 4043128071 scopus 로고    scopus 로고
    • Genetic analysis of genome-wide variation in human gene expression
    • Morley, M. et al. Genetic analysis of genome-wide variation in human gene expression. Nature 430, 743-747 (2004).
    • (2004) Nature , vol.430 , pp. 743-747
    • Morley, M.1
  • 62
    • 11144339384 scopus 로고    scopus 로고
    • Long-range control of gene expression: Emerging mechanisms and disruption in disease
    • Kleinjan, D. A. & van Heyningen, V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am. J. Hum. Genet. 76, 8-32 (2005).
    • (2005) Am. J. Hum. Genet. , vol.76 , pp. 8-32
    • Kleinjan, D.A.1    Van Heyningen, V.2
  • 63
    • 0033925805 scopus 로고    scopus 로고
    • The relationship between the sibling recurrence-risk ratio and genotype relative risk
    • Rybicki, B. A. & Elston, R. C. The relationship between the sibling recurrence-risk ratio and genotype relative risk. Am. J. Hum. Genet. 66, 593-604 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 593-604
    • Rybicki, B.A.1    Elston, R.C.2
  • 64
    • 0033786787 scopus 로고    scopus 로고
    • Linkage disequilibrium and the search for complex disease genes
    • Jorde, L. B. Linkage disequilibrium and the search for complex disease genes. Genome Res. 10, 1435-1444 (2000).
    • (2000) Genome Res. , vol.10 , pp. 1435-1444
    • Jorde, L.B.1
  • 65
    • 0033927466 scopus 로고    scopus 로고
    • Power of linkage versus association analysis of quantitative traits, by use of variance-components models, for sibship data
    • Sham, P. C., Cherny, S. S., Purcell, S. & Hewitt, J. K. Power of linkage versus association analysis of quantitative traits, by use of variance-components models, for sibship data. Am. J. Hum. Genet. 66, 1616-1630 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1616-1630
    • Sham, P.C.1    Cherny, S.S.2    Purcell, S.3    Hewitt, J.K.4
  • 66
    • 0034977045 scopus 로고    scopus 로고
    • Linkage disequilibrium in humans: Models and data
    • Pritchard, J. K. & Przeworski, M. Linkage disequilibrium in humans: models and data. Am. J. Hum. Genet. 69, 1-14 (2001).
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1-14
    • Pritchard, J.K.1    Przeworski, M.2
  • 67
    • 0344033602 scopus 로고    scopus 로고
    • Detecting disease associations due to linkage disequilibrium using haplotype tags: A class of tests and the determinants of statistical power
    • Chapman, J. M., Cooper, J. D., Todd, J. A. & Clayton, D. G. Detecting disease associations due to linkage disequilibrium using haplotype tags: a class of tests and the determinants of statistical power. Hum. Hered, 56, 18-31 (2003). This paper examines analyses of tag SNPs and suggests that it might be best to discard haplotype information and consider only the main effects of tag SNPs to avoid losing power owing to increased degrees of freedom.
    • (2003) Hum. Hered. , vol.56 , pp. 18-31
    • Chapman, J.M.1    Cooper, J.D.2    Todd, J.A.3    Clayton, D.G.4
  • 68
    • 0345099500 scopus 로고    scopus 로고
    • The usefulness of different density SNP maps for disease association studies of common variants
    • Wang, W. Y. & Todd, J. A. The usefulness of different density SNP maps for disease association studies of common variants. Hum. Mol. Genet. 12, 3145-3149 (2003). Based on sampling simulations of published, near-complete SNP maps, this study assesses the usefulness of different density SNP maps for LD mapping.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 3145-3149
    • Wang, W.Y.1    Todd, J.A.2
  • 69
    • 12144290432 scopus 로고    scopus 로고
    • The impact of SNP density on fine-scale patterns of linkage disequilibrium
    • Ke, X. et al. The impact of SNP density on fine-scale patterns of linkage disequilibrium. Hum. Mol. Genet. 13, 577-588 (2004).
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 577-588
    • Ke, X.1
  • 70
    • 10044279127 scopus 로고    scopus 로고
    • Use of unphased multilocus genotype data in indirect association studies
    • Clayton, D., Chapman, J. & Cooper, J. Use of unphased multilocus genotype data in indirect association studies. Genet. Epidemiol. 27, 415-428 (2004).
    • (2004) Genet. Epidemiol. , vol.27 , pp. 415-428
    • Clayton, D.1    Chapman, J.2    Cooper, J.3
  • 71
    • 4344675303 scopus 로고    scopus 로고
    • Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene
    • Neientsev, S. et al. Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene. Hum. Mol. Genet. 13, 1633-1639 (2004).
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1633-1639
    • Neientsev, S.1
  • 72
    • 0034795550 scopus 로고    scopus 로고
    • Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
    • Jeffreys, A. J., Kauppi, L. & Neumann, R. Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nature Genet. 29, 217-222 (2001).
    • (2001) Nature Genet. , vol.29 , pp. 217-222
    • Jeffreys, A.J.1    Kauppi, L.2    Neumann, R.3
  • 73
    • 0037648420 scopus 로고    scopus 로고
    • Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene
    • Twells, R. C. et al. Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene. Genome Res. 13, 845-855 (2003).
    • (2003) Genome Res. , vol.13 , pp. 845-855
    • Twells, R.C.1
  • 74
    • 0842310835 scopus 로고    scopus 로고
    • Intense and highly localized gene conversion activity in human meiotic crossover hot spots
    • Jeffreys, A. J. & May, C. A. Intense and highly localized gene conversion activity in human meiotic crossover hot spots. Nature Genet. 36, 151-156 (2004).
    • (2004) Nature Genet. , vol.36 , pp. 151-156
    • Jeffreys, A.J.1    May, C.A.2
  • 75
    • 0043267974 scopus 로고    scopus 로고
    • Haplotype blocks and linkage disequilibrium in the human genome
    • Wall, J. D. & Pritchard, J. K. Haplotype blocks and linkage disequilibrium in the human genome. Nature Rev. Genet. 4, 587-597 (2003).
    • (2003) Nature Rev. Genet. , vol.4 , pp. 587-597
    • Wall, J.D.1    Pritchard, J.K.2
  • 76
    • 19944432329 scopus 로고    scopus 로고
    • Investigating the utility of combining Φ29 whole genome amplification and highly multiplexed single nucleotide polymorphism BeadArray genotyping
    • Pask, R. et al. Investigating the utility of combining Φ29 whole genome amplification and highly multiplexed single nucleotide polymorphism BeadArray genotyping. BMC Biotechnol. 4, 15 (2004).
    • (2004) BMC Biotechnol. , vol.4 , pp. 15
    • Pask, R.1
  • 77
    • 85101729751 scopus 로고    scopus 로고
    • Genetic association studies
    • in the press
    • Cordell, H. J. & Clayton, D. G. Genetic association studies. Lancet (in the press).
    • Lancet
    • Cordell, H.J.1    Clayton, D.G.2
  • 78
    • 0346373654 scopus 로고    scopus 로고
    • Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium
    • Carlson, C. S. et al. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am. J. Hum. Genet. 74, 106-120 (2004).
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 106-120
    • Carlson, C.S.1
  • 79
    • 8444223091 scopus 로고    scopus 로고
    • Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples
    • Ke, X. et al. Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples. Hum. Mol. Genet. 13, 2557-2565 (2004).
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 2557-2565
    • Ke, X.1
  • 81
    • 0025959790 scopus 로고
    • Effect modification and the limits of biological inference from epidemiologic data
    • Thompson, W. D. Effect modification and the limits of biological inference from epidemiologic data. J. Clin. Epidemiol. 44, 221-232 (1991).
    • (1991) J. Clin. Epidemiol. , vol.44 , pp. 221-232
    • Thompson, W.D.1
  • 82
    • 0036797562 scopus 로고    scopus 로고
    • Epistasis: What it means, what it doesn't mean, and statistical methods to detect it in humans
    • Cordell, H. J. Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans. Hum. Mol. Genet. 11, 2463-2468 (2002).
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2463-2468
    • Cordell, H.J.1
  • 83
    • 0036155238 scopus 로고    scopus 로고
    • A perspective on epistasis: Limits of models displaying no main effect
    • Culverhouse, R., Suarez, B. K., Lin, J. & Reich, T. A perspective on epistasis: limits of models displaying no main effect. Am. J. Hum. Genet. 70, 461-471 (2002).
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 461-471
    • Culverhouse, R.1    Suarez, B.K.2    Lin, J.3    Reich, T.4
  • 84
    • 7444257916 scopus 로고    scopus 로고
    • Genetics, statistics and human disease: Analytical retooling for complexity
    • Thomton-Wells, T. A., Moore, J. H. & Haines, J. L. Genetics, statistics and human disease: analytical retooling for complexity. Trends. Genet. 20, 640-647 (2004).
    • (2004) Trends. Genet. , vol.20 , pp. 640-647
    • Thomton-Wells, T.A.1    Moore, J.H.2    Haines, J.L.3
  • 85
    • 0042881041 scopus 로고    scopus 로고
    • Mathematical multi-locus approaches to localizing complex human trait genes
    • Hoh, J. & Ott, J. Mathematical multi-locus approaches to localizing complex human trait genes. Nature Rev. Genet 4, 701-709 (2003).
    • (2003) Nature Rev. Genet , vol.4 , pp. 701-709
    • Hoh, J.1    Ott, J.2
  • 86
    • 0035922669 scopus 로고    scopus 로고
    • Epidemiological methods for studying genes and environmental factors in complex diseases
    • Clayton, D. & McKeigue, P. M. Epidemiological methods for studying genes and environmental factors in complex diseases. Lancet 358, 1356-1360 (2001).
    • (2001) Lancet , vol.358 , pp. 1356-1360
    • Clayton, D.1    McKeigue, P.M.2
  • 87
    • 0027320815 scopus 로고
    • Review of the putative association of dopamine D2 receptor and alcoholism: A meta-analysis
    • Pato, C. N., Macciardi, F., Pato, M. T., Verga, M. & Kennedy, J. L. Review of the putative association of dopamine D2 receptor and alcoholism: a meta-analysis. Am. J. Med. Genet. 48, 78-82 (1993).
    • (1993) Am. J. Med. Genet. , vol.48 , pp. 78-82
    • Pato, C.N.1    Macciardi, F.2    Pato, M.T.3    Verga, M.4    Kennedy, J.L.5
  • 88
    • 12144285594 scopus 로고    scopus 로고
    • Assessing the impact of population stratification on genetic association studies
    • Freedman, M. L. et al. Assessing the impact of population stratification on genetic association studies. Nature Genet. 36, 388-393 (2004).
    • (2004) Nature Genet. , vol.36 , pp. 388-393
    • Freedman, M.L.1
  • 89
    • 2442585696 scopus 로고    scopus 로고
    • The effects of human population structure on large genetic association studies
    • Marchini, J., Cardon, L. R., Phillips, M. S. & Donnelly, P. The effects of human population structure on large genetic association studies. Nature Genet. 36, 512-517 (2004).
    • (2004) Nature Genet. , vol.36 , pp. 512-517
    • Marchini, J.1    Cardon, L.R.2    Phillips, M.S.3    Donnelly, P.4
  • 90
    • 0033358548 scopus 로고    scopus 로고
    • Use of unlinked genetic markers to detect population stratification in association studies
    • Pritchard, J. K. & Rosenberg, N. A. Use of unlinked genetic markers to detect population stratification in association studies. Am. J. Hum. Genet. 65, 220-228 (1999).
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 220-228
    • Pritchard, J.K.1    Rosenberg, N.A.2
  • 91
    • 0037648359 scopus 로고    scopus 로고
    • Contral of confounding of genetic associations in stratified populations
    • Hoggart, C. J. et al. Contral of confounding of genetic associations in stratified populations. Am. J. Hum. Genet. 72, 1492-1504 (2003).
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 1492-1504
    • Hoggart, C.J.1
  • 93
    • 0032714352 scopus 로고    scopus 로고
    • Genomic control for association studies
    • Devlin, B. & Roeder, K. Genomic control for association studies. Biometrics 55, 997-1004 (1999).
    • (1999) Biometrics , vol.55 , pp. 997-1004
    • Devlin, B.1    Roeder, K.2
  • 94
    • 0001328729 scopus 로고
    • The mortality of doctors in relation to their smoking habits
    • Doll, R. & Hill, A. B. The mortality of doctors in relation to their smoking habits. BMJ 228, 1451-1455 (1954).
    • (1954) BMJ , vol.228 , pp. 1451-1455
    • Doll, R.1    Hill, A.B.2
  • 96
    • 0029150074 scopus 로고
    • A comparison of linkage disequilibrium measures for fine-scale mapping
    • Devlin, B. & Risch, N. A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 29, 311-322 (1995).
    • (1995) Genomics , vol.29 , pp. 311-322
    • Devlin, B.1    Risch, N.2
  • 97
    • 0000951097 scopus 로고
    • The evolutionary dynamics of complex polymorphisms
    • Lewontin, R. C. & Kojima, K. The evolutionary dynamics of complex polymorphisms. Evolution 14, 458-472 (1960).
    • (1960) Evolution , vol.14 , pp. 458-472
    • Lewontin, R.C.1    Kojima, K.2
  • 98
    • 0002907949 scopus 로고
    • The interaction of selection and linkage. I. General considerations; heterotic models
    • Lewontin, R. C. The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 49, 49-67 (1964).
    • (1964) Genetics , vol.49 , pp. 49-67
    • Lewontin, R.C.1
  • 99
    • 0014357408 scopus 로고
    • The effects of inbreeding at loci with heterozygote advantage
    • Hill, W. G. & Robertson, A. The effects of inbreeding at loci with heterozygote advantage. Genetics 60, 615-628 (1968).
    • (1968) Genetics , vol.60 , pp. 615-628
    • Hill, W.G.1    Robertson, A.2
  • 100
    • 0036137130 scopus 로고    scopus 로고
    • Linkage disequilibrium and the mapping of complex human traits
    • Weisa, K. M. & Clark, A. G. Linkage disequilibrium and the mapping of complex human traits. Trends Genet. 18, 19-24 (2002).
    • (2002) Trends Genet. , vol.18 , pp. 19-24
    • Weisa, K.M.1    Clark, A.G.2
  • 101
    • 0344826588 scopus 로고    scopus 로고
    • Haplotype tagging single nucleotide polymorphisms and association studies
    • Thompson, D., Stram, D., Goldgar, D. & Witte, J. S. Haplotype tagging single nucleotide polymorphisms and association studies. Hum. Hered. 56, 48-55 (2003).
    • (2003) Hum. Hered. , vol.56 , pp. 48-55
    • Thompson, D.1    Stram, D.2    Goldgar, D.3    Witte, J.S.4
  • 102
    • 0042387813 scopus 로고    scopus 로고
    • Assessing the performance of the haplotype block model of linkage disequilibrium
    • Wall, J. D. & Pritchard, J. K. Assessing the performance of the haplotype block model of linkage disequilibrium. Am. J. Hum. Genet. 73, 502-515 (2003). A review on haplotype blocks and LD in the human genome.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 502-515
    • Wall, J.D.1    Pritchard, J.K.2
  • 103
    • 1642399172 scopus 로고    scopus 로고
    • Betting odds and genetic associations
    • Thomas, D. C. & Clayton, D. G. Betting odds and genetic associations. J. Natl Cancer Inst 96, 421-423 (2004).
    • (2004) J. Natl. Cancer Inst. , vol.96 , pp. 421-423
    • Thomas, D.C.1    Clayton, D.G.2
  • 104
    • 1642295096 scopus 로고    scopus 로고
    • Assessing the probability that a positive report is false: An approach for molecular epidemiology studies
    • Wacholder, S. et al. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J. Natl Cancer Inst. 96, 434-442 (2004).
    • (2004) J. Natl. Cancer Inst. , vol.96 , pp. 434-442
    • Wacholder, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.