메뉴 건너뛰기




Volumn 2, Issue 2, 2001, Pages 91-99

Association study designs for complex diseases

Author keywords

[No Author keywords available]

Indexed keywords

GENE LINKAGE DISEQUILIBRIUM; GENETIC DISORDER; GENETICS; HUMAN; REVIEW;

EID: 0035257236     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/35052543     Document Type: Review
Times cited : (1184)

References (95)
  • 1
    • 17344380534 scopus 로고    scopus 로고
    • An SNP map of human chromosome 22
    • Mullikin, J. C. et al. An SNP map of human chromosome 22. Nature 407, 516-520 (2000).
    • (2000) Nature , vol.407 , pp. 516-520
    • Mullikin, J.C.1
  • 2
    • 0034727107 scopus 로고    scopus 로고
    • An SNP map of the human genome generated by reduced representation shotgun sequencing
    • Altshuler, D. et al. An SNP map of the human genome generated by reduced representation shotgun sequencing. Nature 407, 513-516 (2000).
    • (2000) Nature , vol.407 , pp. 513-516
    • Altshuler, D.1
  • 3
    • 0031304155 scopus 로고    scopus 로고
    • The role of innovation in drug development
    • Drews, J. & Ryser, S. The role of innovation in drug development. Nature Biotechnol. 15, 1318-1319 (1997).
    • (1997) Nature Biotechnol. , vol.15 , pp. 1318-1319
    • Drews, J.1    Ryser, S.2
  • 4
    • 0032403973 scopus 로고    scopus 로고
    • Linkage disequilibrium mapping of complex disease: Fantasy or reality?
    • Terwilliger, J. D. & Weiss, K. M. Linkage disequilibrium mapping of complex disease: fantasy or reality? Curr. Opin. Biotechnol. 9, 578-594 (1998).
    • (1998) Curr. Opin. Biotechnol. , vol.9 , pp. 578-594
    • Terwilliger, J.D.1    Weiss, K.M.2
  • 5
    • 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 355, 309-111 (2000).
    • (2000) Lancet , vol.355 , pp. 309-1111
    • Gambaro, G.1    Anglani, F.2    D'Angelo, A.3
  • 6
    • 0033780104 scopus 로고    scopus 로고
    • How many diseases does it take to map a gene with SNPs?
    • Weiss, K. M. & Terwilliger, J. D. How many diseases does it take to map a gene with SNPs? Nature Genet. 26, 151-157 (2000). This paper is essential reading for anyone undertaking association studies of common characters. The primary aim is to elucidate the difficulties in identifying genetic loci that contribute to complex traits. The literature cited covers some necessary population genetics material.
    • (2000) Nature Genet. , vol.26 , pp. 151-157
    • Weiss, K.M.1    Terwilliger, J.D.2
  • 7
    • 0034660559 scopus 로고    scopus 로고
    • Searching for genetic determinants in the new millennium
    • Risch, N. J. Searching for genetic determinants in the new millennium. Nature 405, 847-856 (2000). An excellent summary of current statistical procedures and their comparative strengths and weaknesses for complex trait mapping. Very useful for comparing linkage and association and for distinguishing familial influences on discrete versus quantitative traits.
    • (2000) Nature , vol.405 , pp. 847-856
    • Risch, N.J.1
  • 8
    • 0032126964 scopus 로고    scopus 로고
    • The future of genetic epidemiology
    • Schork, N. J., Cardon, L. R. & Xu, X. The future of genetic epidemiology. Trends Genet. 14, 266-272 (1998).
    • (1998) Trends Genet. , vol.14 , pp. 266-272
    • Schork, N.J.1    Cardon, L.R.2    Xu, X.3
  • 9
    • 0028907339 scopus 로고
    • Positional cloning moves from perditional to traditional
    • Collins, F. Positional cloning moves from perditional to traditional. Nature Genet. 9, 347-350 (1995).
    • (1995) Nature Genet. , vol.9 , pp. 347-350
    • Collins, F.1
  • 10
    • 0028090414 scopus 로고
    • Genetic dissection of complex traits
    • Lander, E. S. & Schork, N. J. Genetic dissection of complex traits. Science 265, 2037-2048 (1994).
    • (1994) Science , vol.265 , pp. 2037-2048
    • Lander, E.S.1    Schork, N.J.2
  • 11
    • 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).
    • (1996) Science , vol.273 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 12
    • 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
  • 13
    • 0030994211 scopus 로고    scopus 로고
    • Fine-scale genetic mapping based on linkage disequilibrium: Theory and applications
    • Xiong, M. & Guo, S. W. Fine-scale genetic mapping based on linkage disequilibrium: theory and applications. Am. J. Hum. Genet. 60, 1513-1531 (1997).
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1513-1531
    • Xiong, M.1    Guo, S.W.2
  • 14
    • 13344269025 scopus 로고    scopus 로고
    • Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23
    • Freimer, N. B. et al. Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nature Genet. 12, 436-441 (1996).
    • (1996) Nature Genet. , vol.12 , pp. 436-441
    • Freimer, N.B.1
  • 15
    • 0026949420 scopus 로고
    • Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
    • Hastbacka, J. et al. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet. 2, 204-211 (1992). This is becoming a classic paper on using disequilibrium/haplotype data to identify disease loci. The trait studied does not reflect the common disease framework of current widespread interest, but the procedures used offer a useful model from which to start.
    • (1992) Nature Genet. , vol.2 , pp. 204-211
    • Hastbacka, J.1
  • 16
    • 0033592988 scopus 로고    scopus 로고
    • Genetic epidemiology of single-nucleotide polymorphisms
    • Collins, A., Lonjou, C. & Morton, N. E. Genetic epidemiology of single-nucleotide polymorphisms. Proc. Natl Acad. Sci. USA 96, 15173-15177 (1999). One of a series of key papers by these authors who compare disequilibrium measures, evaluate real data patterns to infer genome-wide marker spacing requirements, and combine population genetics principles with those of disease-gene mapping to characterize allelic association.
    • (1999) Proc. Natl Acad. Sci. USA , vol.96 , pp. 15173-15177
    • Collins, A.1    Lonjou, C.2    Morton, N.E.3
  • 17
    • 0033918564 scopus 로고    scopus 로고
    • The genetically isolated populations of finland and sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes
    • Eaves, I. A. et al. The genetically isolated populations of finland and sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes. Nature Genet. 25, 320-323 (2000).
    • (2000) Nature Genet. , vol.25 , pp. 320-323
    • Eaves, I.A.1
  • 18
    • 0033930144 scopus 로고    scopus 로고
    • Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28
    • Taillon-Miller, P. et al. Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nature Genet. 25, 324-328 (2000).
    • (2000) Nature Genet. , vol.25 , pp. 324-328
    • Taillon-Miller, P.1
  • 19
    • 17344364213 scopus 로고    scopus 로고
    • DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene
    • Nickerson, D. A. et al. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nature Genet. 19, 233-240 (1998).
    • (1998) Nature Genet. , vol.19 , pp. 233-240
    • Nickerson, D.A.1
  • 20
    • 0032231888 scopus 로고    scopus 로고
    • Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase
    • Clark, A. G. et al. Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am. J. Hum. Genet. 63, 595-612 (1998).
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 595-612
    • Clark, A.G.1
  • 21
    • 0032991552 scopus 로고    scopus 로고
    • Characterization of single-nucleotide polymorphisms in coding regions of human genes
    • Cargill, M. et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet. 22, 231-238 (1999).
    • (1999) Nature Genet. , vol.22 , pp. 231-238
    • Cargill, M.1
  • 22
    • 0032990407 scopus 로고    scopus 로고
    • Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
    • Halushka, M. K. et al. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nature Genet. 22, 239-247 (1999).
    • (1999) Nature Genet. , vol.22 , pp. 239-247
    • Halushka, M.K.1
  • 23
    • 0033940849 scopus 로고    scopus 로고
    • Recombinational and mutational hotspots within the human lipoprotein lipase gene
    • Templeton, A. R. et al. Recombinational and mutational hotspots within the human lipoprotein lipase gene. Am. J. Hum. Genet. 66, 69-83 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 69-83
    • Templeton, A.R.1
  • 24
    • 0034602718 scopus 로고    scopus 로고
    • Predicting the range of linkage disequilibrium
    • Ott, J. Predicting the range of linkage disequilibrium. Proc. Natl Acad. Sci. USA 97, 2-3 (2000).
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 2-3
    • Ott, J.1
  • 25
    • 0035226817 scopus 로고    scopus 로고
    • Linkage disequilibrium mapping: The role of population history, size, and structure
    • Chapman, N. H. & Thompson, E. A. Linkage disequilibrium mapping: the role of population history, size, and structure. Adv. Genet. 42, 413-437 (2001).
    • (2001) Adv. Genet. , vol.42 , pp. 413-437
    • Chapman, N.H.1    Thompson, E.A.2
  • 26
    • 34249018902 scopus 로고
    • The rhesus factor: A study in scientific method
    • Fisher, R. A. The rhesus factor: a study in scientific method. Am. Sci. 35, 95-103 (1947).
    • (1947) Am. Sci. , vol.35 , pp. 95-103
    • Fisher, R.A.1
  • 28
    • 84984932880 scopus 로고    scopus 로고
    • Array of hope
    • Lander, E. S. Array of hope. Nature Genet. 21, 3-4 (1999).
    • (1999) Nature Genet. , vol.21 , pp. 3-4
    • Lander, E.S.1
  • 29
    • 0347326911 scopus 로고    scopus 로고
    • Design and analysis of linkage disequilibrium studies for complex human diseases
    • Risch, N. & Teng, J. Design and analysis of linkage disequilibrium studies for complex human diseases. Am. J. Hum. Genet. 61, 1707 (1997).
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 1707
    • Risch, N.1    Teng, J.2
  • 30
    • 0032427048 scopus 로고    scopus 로고
    • The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases I. DNA pooling
    • Risch, N. & Teng, J. The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases I. DNA pooling. Genome Res. 8, 1273-1288 (1998).
    • (1998) Genome Res. , vol.8 , pp. 1273-1288
    • Risch, N.1    Teng, J.2
  • 31
    • 0032897131 scopus 로고    scopus 로고
    • The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases. II. Individual genotyping
    • Teng, J. & Risch, N. The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases. II. Individual genotyping. Genome Res. 9, 234-241 (1999).
    • (1999) Genome Res. , vol.9 , pp. 234-241
    • Teng, J.1    Risch, N.2
  • 32
    • 0033919466 scopus 로고    scopus 로고
    • Genetic association studies in complex diseases
    • Keavney, B. Genetic association studies in complex diseases. J. Hum. Hypertens. 14, 361-367 (2000).
    • (2000) J. Hum. Hypertens. , vol.14 , pp. 361-367
    • Keavney, B.1
  • 33
    • 0034606897 scopus 로고    scopus 로고
    • Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls
    • International Studies of Infarct Survival (ISIS) Collaborators
    • Keavney, B. et al. Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls. International Studies of Infarct Survival (ISIS) Collaborators. Lancet 355, 434-442 (2000). The need for association studies to involve thousands of patients is clearly shown by comparing the results of a number of typical, small studies with that of a large-scale, well-controlled design. Reference 33 offers a similar example for non-insulin-dependent diabetes mellitus.
    • (2000) Lancet , vol.355 , pp. 434-442
    • Keavney, B.1
  • 34
    • 0033624575 scopus 로고    scopus 로고
    • The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
    • Altshuler, D. et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genet. 26, 76-80 (2000).
    • (2000) Nature Genet. , vol.26 , pp. 76-80
    • Altshuler, D.1
  • 35
    • 0026675062 scopus 로고
    • Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction
    • Cambien, F. et al. Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature 359, 641-644 (1992).
    • (1992) Nature , vol.359 , pp. 641-644
    • Cambien, F.1
  • 36
    • 0345350737 scopus 로고
    • Use of pooled DNA samples to detect linkage disequilibrium of polymorphic restriction fragments and human disease: Studies of the HLA class II loci
    • Arnheim, N., Strange, C. & Erlich, H. Use of pooled DNA samples to detect linkage disequilibrium of polymorphic restriction fragments and human disease: studies of the HLA class II loci. Proc. Natl Acad. Sci. USA 82, 6970-6974 (1985).
    • (1985) Proc. Natl Acad. Sci. USA , vol.82 , pp. 6970-6974
    • Arnheim, N.1    Strange, C.2    Erlich, H.3
  • 37
    • 0030763566 scopus 로고    scopus 로고
    • Association mapping of disease loci, by use of a pooled DNA genomic screen
    • Barcellos, L. F. et al. Association mapping of disease loci, by use of a pooled DNA genomic screen. Am. J. Hum. Genet. 61, 734-747 (1997).
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 734-747
    • Barcellos, L.F.1
  • 38
    • 0031981997 scopus 로고    scopus 로고
    • A simple method for analyzing microsatellite allele image patterns generated from DNA pools and its application to allelic association studies
    • Daniels, J. et al. A simple method for analyzing microsatellite allele image patterns generated from DNA pools and its application to allelic association studies. Am. J. Hum. Genet. 62, 1189-1197 (1998).
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1189-1197
    • Daniels, J.1
  • 39
    • 0031889566 scopus 로고    scopus 로고
    • Allele frequency distributions in pooled DNA samples: Applications to mapping complex disease genes
    • Shaw, S. H., Carrasquillo, M. M., Kashuk, C., Puffenberger, E. G. & Chakravarti, A. Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes. Genome Res. 8, 111-123 (1998).
    • (1998) Genome Res. , vol.8 , pp. 111-123
    • Shaw, S.H.1    Carrasquillo, M.M.2    Kashuk, C.3    Puffenberger, E.G.4    Chakravarti, A.5
  • 40
    • 0033954077 scopus 로고    scopus 로고
    • Pooled genotyping of microsatellite markers in parent-offspring trios
    • Kirov, G., Williams, N., Sham, P., Craddock, N. & Owen, M. J. Pooled genotyping of microsatellite markers in parent-offspring trios. Genome Res. 10, 105-115 (2000).
    • (2000) Genome Res. , vol.10 , pp. 105-115
    • Kirov, G.1    Williams, N.2    Sham, P.3    Craddock, N.4    Owen, M.J.5
  • 41
    • 0023235253 scopus 로고
    • Haplotype relative risks: An easy reliable way to construct a proper control sample for risk calculations
    • Falk, C. T. & Rubinstein, P. Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann. Hum. Genet. 51, 227-233 (1987).
    • (1987) Ann. Hum. Genet. , vol.51 , pp. 227-233
    • Falk, C.T.1    Rubinstein, P.2
  • 42
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus
    • Spielman, R. S., McGinnis, R. E. & Ewens, W. J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus. Am. J. Hum. Genet. 52, 506-516 (1993). The TDT test and its immediate predecessors changed the way human genetic studies were conducted throughout the past decade. This is the original paper describing the method.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 43
    • 0028385263 scopus 로고
    • The transmission/disequilibrium test detects cosegregation and linkage
    • Spielman, R. S., McGinnis, R. E. & Ewens, W. J. The transmission/disequilibrium test detects cosegregation and linkage. Am. J. Hum. Genet. 54, 559-560 (1994).
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 559-560
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 44
    • 0029858544 scopus 로고    scopus 로고
    • The TDT and other family-based tests for linkage disequilibrium and association
    • Spielman, R. S. & Ewens, W. J. The TDT and other family-based tests for linkage disequilibrium and association. Am. J. Hum. Genet. 59, 983-989 (1996).
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 983-989
    • Spielman, R.S.1    Ewens, W.J.2
  • 45
    • 0028981182 scopus 로고
    • An extended transmission/disequilibrium test (TDT) for multiallelic marker loci
    • Sham, P. C. & Curtis, D. An extended transmission/disequilibrium test (TDT) for multiallelic marker loci. Ann. Hum. Genet. 59, 323-326 (1995).
    • (1995) Ann. Hum. Genet. , vol.59 , pp. 323-326
    • Sham, P.C.1    Curtis, D.2
  • 46
    • 0031912715 scopus 로고    scopus 로고
    • A sibship test for linkage in the presence of association: The sib transmission/disequilibrium test
    • Spielman, R. S. & Ewens, W. J. A sibship test for linkage in the presence of association: The sib transmission/disequilibrium test. Am. J. Hum. Genet. 62, 450-458 (1998).
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 450-458
    • Spielman, R.S.1    Ewens, W.J.2
  • 47
    • 0030669122 scopus 로고    scopus 로고
    • Use of siblings as controls in case-control association studies
    • Curtis, D. Use of siblings as controls in case-control association studies. Ann. Hum. Genet. 61, 319-333 (1997).
    • (1997) Ann. Hum. Genet. , vol.61 , pp. 319-333
    • Curtis, D.1
  • 48
    • 0030772982 scopus 로고    scopus 로고
    • Tests for linkage and association in nuclear families
    • Martin, E. R., Kaplan, N. L. & Weir, B. S. Tests for linkage and association in nuclear families. Am. J. Hum. Genet. 61, 439-448 (1997).
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 439-448
    • Martin, E.R.1    Kaplan, N.L.2    Weir, B.S.3
  • 49
    • 0031028361 scopus 로고    scopus 로고
    • Transmission-disequilibrium tests for quantitative traits
    • Allison, D. B. Transmission-disequilibrium tests for quantitative traits. Am. J. Hum. Genet. 60, 676-690 (1997).
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 676-690
    • Allison, D.B.1
  • 50
    • 0030827556 scopus 로고    scopus 로고
    • A transmission disequilibrium test for quantitative trait loci
    • Rabinowitz, D. A transmission disequilibrium test for quantitative trait loci. Hum. Hered. 47, 342-350 (1997).
    • (1997) Hum. Hered. , vol.47 , pp. 342-350
    • Rabinowitz, D.1
  • 51
    • 0033909546 scopus 로고    scopus 로고
    • A general test of association for quantitative traits in nuclear families
    • Abecasis, G. R., Cardon, L. R. & Cookson, W. O. A general test of association for quantitative traits in nuclear families. Am. J. Hum. Genet. 66, 279-292 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 279-292
    • Abecasis, G.R.1    Cardon, L.R.2    Cookson, W.O.3
  • 52
    • 0033910787 scopus 로고    scopus 로고
    • A test for linkage and association in general pedigrees: The pedigree disequilibrium test
    • Martin, E. R., Monks, S. A., Warren, L. L. & Kaplan, N. L. A test for linkage and association in general pedigrees: The pedigree disequilibrium test. Am. J. Hum. Genet. 67, 146-154 (2000).
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 146-154
    • Martin, E.R.1    Monks, S.A.2    Warren, L.L.3    Kaplan, N.L.4
  • 53
    • 0028923282 scopus 로고
    • Analysis of the CD3 gene region and type 1 diabetes: Application of fluorescence-based technology to linkage disequilibrium mapping
    • Pritchard, L. E. et al. Analysis of the CD3 gene region and type 1 diabetes: application of fluorescence-based technology to linkage disequilibrium mapping. Hum. Mol. Genet. 4, 197-202 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 197-202
    • Pritchard, L.E.1
  • 54
    • 0030444451 scopus 로고    scopus 로고
    • Human type 1 diabetes and the insulin gene: Principles of mapping polygenes
    • Bennett, S. T. & Todd, J. A. Human type 1 diabetes and the insulin gene: Principles of mapping polygenes. Annu. Rev. Genet. 30, 343-370 (1996).
    • (1996) Annu. Rev. Genet. , vol.30 , pp. 343-370
    • Bennett, S.T.1    Todd, J.A.2
  • 55
    • 16944366697 scopus 로고    scopus 로고
    • Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele
    • The IMDIAB Group
    • Bennett, S. T. et al. Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele. The IMDIAB Group. Nature Genet. 17, 350-352 (1997).
    • (1997) Nature Genet. , vol.17 , pp. 350-352
    • Bennett, S.T.1
  • 56
    • 6844241972 scopus 로고    scopus 로고
    • Transmission of haplotypes of microsatellite markers rather than single marker alleles in the mapping of a putative type 1 diabetes susceptibility gene (IDDM6)
    • Merriman, T. R. et al. Transmission of haplotypes of microsatellite markers rather than single marker alleles in the mapping of a putative type 1 diabetes susceptibility gene (IDDM6). Hum. Mol. Genet. 7, 517-524 (1998).
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 517-524
    • Merriman, T.R.1
  • 57
    • 0032786945 scopus 로고    scopus 로고
    • Transmission ratio distortion at the INS-IGF2 VNTR
    • Eaves, I. A. et al. Transmission ratio distortion at the INS-IGF2 VNTR. Nature Genet. 22, 324-325 (1999).
    • (1999) Nature Genet. , vol.22 , pp. 324-325
    • Eaves, I.A.1
  • 58
    • 0031831322 scopus 로고    scopus 로고
    • Sometimes it's hot, sometimes it's not
    • Lernmark, A. & Ott, J. Sometimes it's hot, sometimes it's not. Nature Genet. 19, 213-214 (1998).
    • (1998) Nature Genet. , vol.19 , pp. 213-214
    • Lernmark, A.1    Ott, J.2
  • 59
    • 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, H. H. & Terwilliger, J. D. 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. 66, 1310-1327 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1310-1327
    • Goring, H.H.1    Terwilliger, J.D.2
  • 60
    • 0032530165 scopus 로고    scopus 로고
    • Tests and estimates of allelic association in complex inheritance
    • Morton, N.E. & Collins, A. Tests and estimates of allelic association in complex inheritance. Proc. Natl Acad. Sci. USA 95, 11389-93 (1998).
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 11389-11393
    • Morton, N.E.1    Collins, A.2
  • 61
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • Riordan, J. R. et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245, 1066-1073 (1989).
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1
  • 62
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: Chromosome walking and jumping
    • Rommens, J. M. et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245, 1059-1065 (1989).
    • (1989) Science , vol.245 , pp. 1059-1065
    • Rommens, J.M.1
  • 63
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem, B. et al. Identification of the cystic fibrosis gene: genetic analysis. Science 245, 1073-1080 (1989).
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.1
  • 64
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983 (1993).
    • (1993) Cell , vol.72 , pp. 971-983
  • 65
    • 0033863391 scopus 로고    scopus 로고
    • SNPing away at complex diseases: Analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease
    • Martin, E. R. et al. SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. Am. J. Hum. Genet. 67, 383-394 (2000).
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 383-394
    • Martin, E.R.1
  • 66
    • 0034003082 scopus 로고    scopus 로고
    • Analysis of association at single nucleotide polymorphisms in the APOE region
    • Martin, E. R. et al. Analysis of association at single nucleotide polymorphisms in the APOE region. Genomics 63, 7-12 (2000).
    • (2000) Genomics , vol.63 , pp. 7-12
    • Martin, E.R.1
  • 67
    • 0033772073 scopus 로고    scopus 로고
    • Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
    • Horikawa, Y. et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nature Genet. 26, 163-175 (2000).
    • (2000) Nature Genet. , vol.26 , pp. 163-175
    • Horikawa, Y.1
  • 68
    • 0034660560 scopus 로고    scopus 로고
    • Pharmacogenetics and the practice of medicine
    • Roses, A. D. Pharmacogenetics and the practice of medicine. Nature 405, 857-865 (2000).
    • (2000) Nature , vol.405 , pp. 857-865
    • Roses, A.D.1
  • 69
    • 0031694075 scopus 로고    scopus 로고
    • Measured haplotype analysis of the angiotensin-I converting enzyme gene
    • Keavney, B. et al. Measured haplotype analysis of the angiotensin-I converting enzyme gene. Hum. Mol. Genet. 7, 1745-1751 (1998). The ACE locus and ACE phenotype is a model quantitative system. Despite the unusually clear haplotype relationships in this gene and population, the study clearly demonstrates the difficulty in distinguishing which specific variants are responsible for phenotypic variability.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1745-1751
    • Keavney, B.1
  • 70
    • 0034640001 scopus 로고    scopus 로고
    • Single nucleotide polymorphism and linkage disequilibrium within the TCR alpha/delta locus
    • Moffatt, M. F., Traherne, J. A., Abecasis, G. R. & Cookson, W. O. Single nucleotide polymorphism and linkage disequilibrium within the TCR alpha/delta locus. Hum. Mol. Genet. 9, 1011-1019 (2000).
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1011-1019
    • Moffatt, M.F.1    Traherne, J.A.2    Abecasis, G.R.3    Cookson, W.O.4
  • 71
    • 0035163547 scopus 로고    scopus 로고
    • Patterns of linkage disequilibrium from three genomic regions
    • Abecasis, G. R. et al. Patterns of linkage disequilibrium from three genomic regions. Am. J. Hum. Genet. 68, 191-197 (2001).
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 191-197
    • Abecasis, G.R.1
  • 72
    • 0032727199 scopus 로고    scopus 로고
    • Fine-mapping of an ancestral recombination breakpoint in DCP1
    • Farrall, M. et al. Fine-mapping of an ancestral recombination breakpoint in DCP1. Nature Genet. 23, 270-271 (1999).
    • (1999) Nature Genet. , vol.23 , pp. 270-271
    • Farrall, M.1
  • 74
    • 0024510601 scopus 로고
    • Identification of susceptibility loci for insulin-dependent diabetes mellitus by trans-racial gene mapping
    • Todd, J. A. et al. Identification of susceptibility loci for insulin-dependent diabetes mellitus by trans-racial gene mapping. Nature 338, 587-589 (1989).
    • (1989) Nature , vol.338 , pp. 587-589
    • Todd, J.A.1
  • 76
    • 0034612015 scopus 로고    scopus 로고
    • Waiting for the working draft from the human genome project: A huge achievement, but not of immediate medical use
    • Cardon, L. R. & Watkins, H. Waiting for the working draft from the human genome project: A huge achievement, but not of immediate medical use. Br. Med. J. 320, 1221-1222 (2000).
    • (2000) Br. Med. J. , vol.320 , pp. 1221-1222
    • Cardon, L.R.1    Watkins, H.2
  • 77
    • 0033039497 scopus 로고    scopus 로고
    • Prospects for whole-genome linkage disequilibrium mapping of common disease genes
    • Kruglyak, L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nature Genet. 22, 139-144 (1999). Mathematical population genetics modelling is used to simulate background levels of linkage disequilibrium in the genome, indicating that very fine-scale maps are required for disease gene association mapping. Although hotly contested and not always supported by empirical reports, this paper clearly outlines the Issues and importance of disequilibrium levels in the genome.
    • (1999) Nature Genet. , vol.22 , pp. 139-144
    • Kruglyak, L.1
  • 78
    • 0032539537 scopus 로고    scopus 로고
    • Mapping a disease locus by allelic association
    • Collins, A. & Morton, N. E. Mapping a disease locus by allelic association. Proc. Natl Acad. Sci. USA 95, 1741-1745 (1998).
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 1741-1745
    • Collins, A.1    Morton, N.E.2
  • 79
    • 0032928542 scopus 로고    scopus 로고
    • Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans
    • Cox, N. J. et al. Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans. Nature Genet. 21, 213-215 (1999).
    • (1999) Nature Genet. , vol.21 , pp. 213-215
    • Cox, N.J.1
  • 80
    • 0030684788 scopus 로고    scopus 로고
    • Evolving methods in genetic epidemiology. 2. Genetic linkage from an epidemiologic perspective
    • Risch, N. Evolving methods in genetic epidemiology. 2. Genetic linkage from an epidemiologic perspective. Epidemiol. Rev. 19, 24-32 (1997).
    • (1997) Epidemiol. Rev. , vol.19 , pp. 24-32
    • Risch, N.1
  • 81
    • 0035257025 scopus 로고    scopus 로고
    • At the interfaces of epidemiology, genetics and genomics
    • Potter, J. D. At the interfaces of epidemiology, genetics and genomics. Nature Rev. Genet. 2, 142-147 (2001).
    • (2001) Nature Rev. Genet. , vol.2 , pp. 142-147
    • Potter, J.D.1
  • 83
    • 0344500841 scopus 로고    scopus 로고
    • A scan for linkage disequilibrium across the human genome
    • Huttley, G. A., Smith, M. W., Carrington, M. & O'Brien, S. J. A scan for linkage disequilibrium across the human genome. Genetics 152, 1711-1722 (1999).
    • (1999) Genetics , vol.152 , pp. 1711-1722
    • Huttley, G.A.1    Smith, M.W.2    Carrington, M.3    O'Brien, S.J.4
  • 84
    • 0033926130 scopus 로고    scopus 로고
    • Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations
    • Goddard, K. A., Hopkins, P. J., Hall, J. M. & Witte, J. S. Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations. Am. J. Hum. Genet. 66, 216-234 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 216-234
    • Goddard, K.A.1    Hopkins, P.J.2    Hall, J.M.3    Witte, J.S.4
  • 85
    • 0033835474 scopus 로고    scopus 로고
    • GT repeats are associated with recombination on human chromosome 22
    • Majewski, J. & Ott, J. GT repeats are associated with recombination on human chromosome 22. Genome Res. 10, 1108-1114 (2000).
    • (2000) Genome Res. , vol.10 , pp. 1108-1114
    • Majewski, J.1    Ott, J.2
  • 86
    • 0034721180 scopus 로고    scopus 로고
    • Manhattan versus Reykjavik
    • Abbott, A. Manhattan versus Reykjavik. Nature 406, 340-342 (2000).
    • (2000) Nature , vol.406 , pp. 340-342
    • Abbott, A.1
  • 87
    • 0035220016 scopus 로고    scopus 로고
    • Linkage and association: Basic concepts
    • Borecki, I. B. & Suarez, B. K. Linkage and association: basic concepts. Adv. Genet. 42, 45-66 (2001).
    • (2001) Adv. Genet. , vol.42 , pp. 45-66
    • Borecki, I.B.1    Suarez, B.K.2
  • 88
    • 0028333697 scopus 로고
    • Linkage disequilibrium in growing and stable populations
    • Slatkin, M. Linkage disequilibrium in growing and stable populations. Genetics 137, 331-336 (1994).
    • (1994) Genetics , vol.137 , pp. 331-336
    • Slatkin, M.1
  • 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). This paper describes the use of unlinked genetic markers to detect population stratification, with minimal mathematical complexity. The key issues of marker spacing and informativeness are evaluated in detail. Reference 94 should be read in follow-up of this paper to see how stratification can be accounted for when it is present.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 220-228
    • Pritchard, J.K.1    Rosenberg, N.A.2
  • 91
    • 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
  • 92
    • 0034118493 scopus 로고    scopus 로고
    • Inference of population structure using multilocus genotype data
    • Pritchard, J. K., Stephens, M. & Donnelly, P. Inference of population structure using multilocus genotype data. Genetics 155, 945-959 (2000).
    • (2000) Genetics , vol.155 , pp. 945-959
    • Pritchard, J.K.1    Stephens, M.2    Donnelly, P.3
  • 95
    • 0030118739 scopus 로고    scopus 로고
    • Genetic dissection of complex traits
    • Witte, J. S., Elston, R. C. & Schork, N. J. Genetic dissection of complex traits. Nature Genet. 12, 355-358 (1996).
    • (1996) Nature Genet. , vol.12 , pp. 355-358
    • Witte, J.S.1    Elston, R.C.2    Schork, N.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.