메뉴 건너뛰기




Volumn 4, Issue 9, 2003, Pages 701-709

Mathematical multi-locus approaches to localizing complex human trait genes

Author keywords

[No Author keywords available]

Indexed keywords

COMPUTER PROGRAM; DIAGNOSTIC APPROACH ROUTE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC MODEL; GENETIC RECOMBINATION; GENETIC TRAIT; GENOME ANALYSIS; HUMAN; MATHEMATICAL ANALYSIS; MATHEMATICAL GENETICS; PRIORITY JOURNAL; PROGENY; REVIEW; STATISTICAL ANALYSIS; STATISTICAL MODEL; STATISTICS;

EID: 0042881041     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/nrg1155     Document Type: Review
Times cited : (239)

References (57)
  • 2
    • 0033766857 scopus 로고    scopus 로고
    • Cladistic structure within the human lipoprotein lipase gene and its implications for phenotypic association studies
    • Templeton, A. R., Weiss, K. M., Nickerson, D. A., Boerwinkle, E. & Sing, C. F. Cladistic structure within the human lipoprotein lipase gene and its implications for phenotypic association studies. Genetics 156, 1259-1275 (2000).
    • (2000) Genetics , vol.156 , pp. 1259-1275
    • Templeton, A.R.1    Weiss, K.M.2    Nickerson, D.A.3    Boerwinkle, E.4    Sing, C.F.5
  • 3
    • 0036245218 scopus 로고    scopus 로고
    • Mapping and analysis of quantitative trait loci in experimental populations
    • Doerge, R. W. Mapping and analysis of quantitative trait loci in experimental populations. Nature Rev. Genet. 3, 43-52 (2002). A review of analysis methods for mapping quantitative trait loci (QTLs). Many of the methods can also be applied to other biological data sets for correlating quantitative phenotypes with genotypes.
    • (2002) Nature Rev. Genet. , vol.3 , pp. 43-52
    • Doerge, R.W.1
  • 4
    • 50749093820 scopus 로고
    • The incidence of alcaptonuria: A study in chemical individuality
    • Garrod, A. E. The incidence of alcaptonuria: a study in chemical individuality. Lancet 11, 1616-1620 (1902).
    • (1902) Lancet , vol.11 , pp. 1616-1620
    • Garrod, A.E.1
  • 5
    • 0043048571 scopus 로고
    • Sequential tests for the detection of linkage
    • Morton, N. E. Sequential tests for the detection of linkage. Am. J. Hum. Genet. 7, 277-318 (1955). The original paper proposing the lod score analysis for human linkage studies.
    • (1955) Am. J. Hum. Genet. , vol.7 , pp. 277-318
    • Morton, N.E.1
  • 6
    • 0015183542 scopus 로고
    • A general model for the analysis of pedigree data
    • Elston, R. C. & Stewart, J. A general model for the analysis of pedigree data. Hum. Hered. 21, 523-542 (1971). The landmark paper describing what is known as the Elston-Stewart algorithm for the genetic analysis of large, extended pedigree data.
    • (1971) Hum. Hered. , vol.21 , pp. 523-542
    • Elston, R.C.1    Stewart, J.2
  • 7
    • 0016302483 scopus 로고
    • Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies
    • Ott, J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am. J. Hum. Genet. 26, 588-597 (1974).
    • (1974) Am. J. Hum. Genet. , vol.26 , pp. 588-597
    • Ott, J.1
  • 8
    • 0016286262 scopus 로고
    • Linkage studies in a large kindred with familial hypercholesterolemia
    • Ott, J. et al. Linkage studies in a large kindred with familial hypercholesterolemia. Am. J. Hum. Genet. 26, 598-603 (1974). The first application of the lod score method in a large human kindred allowing for age-dependent penetrance that led to identification of the gene that is responsible for familial hypercholesterolaemia.
    • (1974) Am. J. Hum. Genet. , vol.26 , pp. 598-603
    • Ott, J.1
  • 9
    • 0018226240 scopus 로고
    • Linkage between familial hypercholesterolemia with xanthomatosis and the C3 polymorphism confirmed
    • Berg, K. & Heiberg, A. Linkage between familial hypercholesterolemia with xanthomatosis and the C3 polymorphism confirmed. Cytogenet. Cell. Genet. 22, 621-623 (1978).
    • (1978) Cytogenet. Cell. Genet. , vol.22 , pp. 621-623
    • Berg, K.1    Heiberg, A.2
  • 10
    • 0021028244 scopus 로고
    • A polymorphic DNA marker genetically linked to Huntington's disease
    • Gusella, J. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306, 234-238 (1983).
    • (1983) Nature , vol.306 , pp. 234-238
    • Gusella, J.1
  • 11
    • 0022350960 scopus 로고
    • Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker
    • Tsui, L. C. et al. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science 230, 1054-1057 (1985). This work, together with their 1989 paper in Science, represents the earliest triumph in genetic linkage analysis with DNA markers (restriction fragment length polymorphisms, RFLPS) followed by molecular positional cloning. It assigned the cystic fibrosis (CF) locus to the long arm of chromosome 7 (7q31) and identified the CF transmembrane regulator (CFTR) as the disease gene.
    • (1985) Science , vol.230 , pp. 1054-1057
    • Tsui, L.C.1
  • 12
    • 0035257236 scopus 로고    scopus 로고
    • Association study designs for complex diseases
    • Cardon, L. R. & Bell, J. I. Association study designs for complex diseases. Nature Rev. Genet. 2, 91-99 (2001) The authors review all association studies conducted so far and discuss some crucial issues in study designs.
    • (2001) Nature Rev. Genet. , vol.2 , pp. 91-99
    • Cardon, L.R.1    Bell, J.I.2
  • 13
    • 0036208832 scopus 로고    scopus 로고
    • Patterns of linkage disequilibrium in the human genome
    • Ardlie, K. G., Kruglyak, L. & Seielstad, M. Patterns of linkage disequilibrium in the human genome. Nature Rev. Genet. 3, 299-309 (2002).
    • (2002) Nature Rev. Genet. , vol.3 , pp. 299-309
    • Ardlie, K.G.1    Kruglyak, L.2    Seielstad, M.3
  • 14
    • 0032447843 scopus 로고    scopus 로고
    • Optimization of genome search strategies for homozygosity mapping: Influence of marker spacing on power and threshold criteria for identification of candidate regions
    • Génin, E., Todorov, A. A. and Clerget-Darpoux, F. Optimization of genome search strategies for homozygosity mapping: influence of marker spacing on power and threshold criteria for identification of candidate regions. Ann. Hum. Genet. 62, 419-429 (1998).
    • (1998) Ann. Hum. Genet. , vol.62 , pp. 419-429
    • Génin, E.1    Todorov, A.A.2    Clerget-Darpoux, F.3
  • 15
    • 0035837267 scopus 로고    scopus 로고
    • Linkage disequilibnum in the human genome
    • Reich, D. E. et al. Linkage disequilibnum in the human genome. Nature 411, 199-204 (2001).
    • (2001) Nature , vol.411 , pp. 199-204
    • Reich, D.E.1
  • 16
    • 0034660559 scopus 로고    scopus 로고
    • Searching for genetic determinants in the new millennium
    • Risch, N. Searching for genetic determinants in the new millennium. Nature 405, 847-856 (2000).
    • (2000) Nature , vol.405 , pp. 847-856
    • Risch, N.1
  • 18
    • 0034527775 scopus 로고    scopus 로고
    • Selecting SNPs in two-stage analysis of disease association data: A model-free approach
    • Hoh, J. et al. Selecting SNPs in two-stage analysis of disease association data: a model-free approach. Ann. Hum. Genet. 64, 413-417 (2000).
    • (2000) Ann. Hum. Genet. , vol.64 , pp. 413-417
    • Hoh, J.1
  • 19
  • 20
    • 0041867422 scopus 로고
    • The genetic analysis of familial traits. II. Double gene substitutions, with special reference to hereditary dwarfism
    • Hogben, L. The genetic analysis of familial traits. II. Double gene substitutions, with special reference to hereditary dwarfism. J. Genet. 25, 211-240 (1932).
    • (1932) J. Genet. , vol.25 , pp. 211-240
    • Hogben, L.1
  • 21
    • 0027495139 scopus 로고
    • Joint linkage of multiple loci for a complex disorder
    • MacLean, C. J., Sham, P. C. & Kendler, K. S. Joint linkage of multiple loci for a complex disorder. Am. J. Hum. Genet. 53, 353-366 (1993).
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 353-366
    • MacLean, C.J.1    Sham, P.C.2    Kendler, K.S.3
  • 22
    • 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
  • 23
    • 0027430716 scopus 로고
    • Two-trait-locus linkage analysis: A powerful strategy for mapping complex genetic traits
    • Schork, N. J., Boehnke, M., Terwilliger, J. D. & Ott, J. Two-trait-locus linkage analysis: a powerful strategy for mapping complex genetic traits. Am. J. Hum. Genet. 53, 1127-1136 (1993).
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 1127-1136
    • Schork, N.J.1    Boehnke, M.2    Terwilliger, J.D.3    Ott, J.4
  • 24
    • 0028030120 scopus 로고
    • Two-locus disease models with two marker loci: The power of affected-sib-pair tests
    • Knapp, M., Seuchter, S. A. & Baur M. P. Two-locus disease models with two marker loci: the power of affected-sib-pair tests. Am. J. Hum Genet. 55, 1030-1041 (1994).
    • (1994) Am. J. Hum Genet. , vol.55 , pp. 1030-1041
    • Knapp, M.1    Seuchter, S.A.2    Baur, M.P.3
  • 25
    • 0037506533 scopus 로고    scopus 로고
    • Transmission disequilibrium test of two unlinked disease loci; application to respiratory distress syndrome
    • Fan, R., Floros, J. & Xiong, M. Transmission disequilibrium test of two unlinked disease loci; application to respiratory distress syndrome. Adv. Appl. Stat. 1, 277-308 (2001).
    • (2001) Adv. Appl. Stat. , vol.1 , pp. 277-308
    • Fan, R.1    Floros, J.2    Xiong, M.3
  • 26
    • 0029061838 scopus 로고
    • Statistical methods for linkage analysis of complex traits from high-resolution maps of identity by descent
    • Dupuis, J., Brown, P. O. & Siegmund, D. Statistical methods for linkage analysis of complex traits from high-resolution maps of identity by descent. Genetics 140, 843-856 (1995). The first rigorous theoretical work that compares single-locus search, simultaneous search and conditional search for the mapping of a trait caused by two susceptibility genes.
    • (1995) Genetics , vol.140 , pp. 843-856
    • Dupuis, J.1    Brown, P.O.2    Siegmund, D.3
  • 27
  • 28
    • 0026752141 scopus 로고
    • Genetic marker associations with proliferative retinopathy in persons diagnosed with diabetes before 30 yr of age
    • Cruickshanks, K. J. et al. Genetic marker associations with proliferative retinopathy in persons diagnosed with diabetes before 30 yr of age. Diabetes 41, 879-85 (1992).
    • (1992) Diabetes , vol.41 , pp. 879-885
    • Cruickshanks, K.J.1
  • 29
    • 0030800014 scopus 로고    scopus 로고
    • Epidemiological and offspring analyses of developmental speech disorders using data from the Colorado Adoption Project
    • Felsenfeld, S. & Plomin, R. Epidemiological and offspring analyses of developmental speech disorders using data from the Colorado Adoption Project. J. Speech Lang. Hear. Res. 40, 778-791 (1997)
    • (1997) J. Speech Lang. Hear. Res. , vol.40 , pp. 778-791
    • Felsenfeld, S.1    Plomin, R.2
  • 30
    • 15344338513 scopus 로고    scopus 로고
    • (ed. Lahiri, P.) (IMS Lecture Notes Monograph Series, Institute of Mathematical Statistics, Beachwood, Ohio, USA)
    • Rao, C. R. & Wu, Y. in Model Selection (ed. Lahiri, P.) 1-57 (IMS Lecture Notes Monograph Series, Volume 38, Institute of Mathematical Statistics, Beachwood, Ohio, USA, 2001).
    • (2001) Model Selection , vol.38 , pp. 1-57
    • Rao, C.R.1    Wu, Y.2
  • 31
    • 0031469839 scopus 로고    scopus 로고
    • Neural network analysis of complex traits
    • Lucek, P. R. & Ott, J. Neural network analysis of complex traits. Genet. Epidemiol. 14, 1101-1106 (1997).
    • (1997) Genet. Epidemiol. , vol.14 , pp. 1101-1106
    • Lucek, P.R.1    Ott, J.2
  • 32
    • 0031718876 scopus 로고    scopus 로고
    • Multi-locus nonparametric linkage analysis of complex trait loci with neural networks
    • Lucek, P. Hanke, J., Reich, J., Solla, S. A. & Ott, J. Multi-locus nonparametric linkage analysis of complex trait loci with neural networks. Hum. Hered. 48, 275-284 (1998).
    • (1998) Hum. Hered. , vol.48 , pp. 275-284
    • Lucek, P.1    Hanke, J.2    Reich, J.3    Solla, S.A.4    Ott, J.5
  • 33
    • 0020748239 scopus 로고
    • Computer-intensive methods in statistics
    • Diaconis, P. & Efron, B. Computer-intensive methods in statistics. Sci. Am. 248, 116-130 (1983).
    • (1983) Sci. Am. , vol.248 , pp. 116-130
    • Diaconis, P.1    Efron, B.2
  • 34
    • 18544386196 scopus 로고    scopus 로고
    • Multi-locus interactions predict risk for post-PTCA restenosis: An approach to the genetic analysis of common complex disease
    • Zee, R.Y. et al. Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis of common complex disease. Pharmacogenomics J. 2, 197-201 (2002).
    • (2002) Pharmacogenomics J. , vol.2 , pp. 197-201
    • Zee, R.Y.1
  • 35
    • 0035214299 scopus 로고    scopus 로고
    • Trimming, weighting, and grouping SNPs in human case-control association studies
    • Hoh, J., Wille, A & Ott, J. Trimming, weighting, and grouping SNPs in human case-control association studies. Genome Res. 11, 2115-2119 (2001).
    • (2001) Genome Res. , vol.11 , pp. 2115-2119
    • Hoh, J.1    Wille, A.2    Ott, J.3
  • 36
    • 0035084663 scopus 로고    scopus 로고
    • A combinatorial partitioning method to identify multilocus genotypic partitions that predict quantitative trait variation
    • Nelson, M. R., Kardia, S. L., Ferrell, R. E. & Sing, C. F. A combinatorial partitioning method to identify multilocus genotypic partitions that predict quantitative trait variation. Genome Res. 11, 458-470 (2001).
    • (2001) Genome Res. , vol.11 , pp. 458-470
    • Nelson, M.R.1    Kardia, S.L.2    Ferrell, R.E.3    Sing, C.F.4
  • 37
    • 0034973569 scopus 로고    scopus 로고
    • Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer
    • Ritchie, M. D. et al. Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am. J. Hum. Genet. 69, 138-147 (2001).
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 138-147
    • Ritchie, M.D.1
  • 38
    • 0034786977 scopus 로고    scopus 로고
    • Tree-based linkage and association analyses of asthma
    • Zhang, H., Tsai, C. P., Yu, C. Y. & Bonney, G. Tree-based linkage and association analyses of asthma. Genet. Epidemiol. 21, S317-S322 (2001).
    • (2001) Genet. Epidemiol. , vol.21
    • Zhang, H.1    Tsai, C.P.2    Yu, C.Y.3    Bonney, G.4
  • 40
    • 18544365991 scopus 로고    scopus 로고
    • Segregation at three loci explains familial and population risk in Hirschsprung disease
    • Gabriel, S. B. et al. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nature Genet. 31, 89-93 (2002). This paper offers an innovative method that, for the first time, provides complete genetic dissection of a multifactorial disorder.
    • (2002) Nature Genet. , vol.31 , pp. 89-93
    • Gabriel, S.B.1
  • 41
    • 0038155702 scopus 로고    scopus 로고
    • Development of a novel polygenic model of NIDDM in mice heterozygous for IR and IRS-1 null alleles
    • Bruning, J. C. et al. Development of a novel polygenic model of NIDDM in mice heterozygous for IR and IRS-1 null alleles. Cell 88, 561-572 (1997).
    • (1997) Cell , vol.88 , pp. 561-572
    • Bruning, J.C.1
  • 42
    • 18644382993 scopus 로고    scopus 로고
    • Digenic inheritance of severe insulin resistance in a human pedigree
    • Savage, D. B. et al. Digenic inheritance of severe insulin resistance in a human pedigree. Nature Genet. 31, 379-384 (2002).
    • (2002) Nature Genet. , vol.31 , pp. 379-384
    • Savage, D.B.1
  • 43
    • 0036699528 scopus 로고    scopus 로고
    • Epistatic interaction between KIR3DS1 and HLA-B delays the progression to AJDS
    • Martin, M. P. et al. Epistatic interaction between KIR3DS1 and HLA-B delays the progression to AJDS. Nature Genet. 31, 429-434 (2002).
    • (2002) Nature Genet. , vol.31 , pp. 429-434
    • Martin, M.P.1
  • 44
    • 0036844229 scopus 로고    scopus 로고
    • Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly
    • Ming, J. E. & Muenke, M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am. J. Hum. Genet. 71, 1017-1032 (2002).
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1017-1032
    • Ming, J.E.1    Muenke, M.2
  • 47
    • 0033926169 scopus 로고    scopus 로고
    • Data mining applied to linkage disequilibrium mapping
    • Toivonen, H. T. et al. Data mining applied to linkage disequilibrium mapping. Am. J. Hum. Genet. 87, 133-145 (2000).
    • (2000) Am. J. Hum. Genet. , vol.87 , pp. 133-145
    • Toivonen, H.T.1
  • 48
    • 0034792713 scopus 로고    scopus 로고
    • Preliminary implementation of new data mining techniques for the analysis of simulation data from Genetic Analysis Workshop 12: Problem 2
    • Flodman, P., Macula, A. J., Spence, M. A. & Torney, D. C. Preliminary implementation of new data mining techniques for the analysis of simulation data from Genetic Analysis Workshop 12: Problem 2. Genet. Epidemiol. 21, S390-S395 (2001).
    • (2001) Genet. Epidemiol. , vol.21
    • Flodman, P.1    Macula, A.J.2    Spence, M.A.3    Torney, D.C.4
  • 49
    • 0034798335 scopus 로고    scopus 로고
    • Applying data mining techniques to the mapping of complex disease genes
    • Czika, W. A. et al. Applying data mining techniques to the mapping of complex disease genes. Genet. Epidemiol. 21, S435-S440 (2001).
    • (2001) Genet. Epidemiol. , vol.21
    • Czika, W.A.1
  • 50
    • 0001168506 scopus 로고
    • Cause-effect relationships and partially defined Boolean functions
    • Crama, Y., Hammer, P. L. & Ibaraki, T. Cause-effect relationships and partially defined Boolean functions. Ann. Oper. Res. 16, 299-326 (1988).
    • (1988) Ann. Oper. Res. , vol.16 , pp. 299-326
    • Crama, Y.1    Hammer, P.L.2    Ibaraki, T.3
  • 51
    • 0037031258 scopus 로고    scopus 로고
    • Use of the logical analysis of data method for assessing long-term mortality nsk after exercise electrocardiography
    • Lauer, M. S. et al. et al. Use of the logical analysis of data method for assessing long-term mortality nsk after exercise electrocardiography. Circulation 106, 685-690 (2002).
    • (2002) Circulation , vol.106 , pp. 685-690
    • Lauer, M.S.1
  • 52
    • 0030333453 scopus 로고    scopus 로고
    • Who's afraid of epistasis?
    • Frankel, W. N. & Schork, N. J. Who's afraid of epistasis? Nature Genet. 14, 371-373 (1996). In their comments on the two reports in the same issue of the journal, the authors predict that genetic epistasis is a common phenomenon for complex phenotypes despite only sparse evidence at the time.
    • (1996) Nature Genet. , vol.14 , pp. 371-373
    • Frankel, W.N.1    Schork, N.J.2
  • 53
    • 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
  • 54
    • 0035829361 scopus 로고    scopus 로고
    • Controlling the false discovery rate in behavior genetics research
    • Benjamin, Y., Drai, D., Elmer, G., Kafkafi, N. & Golani, I. Controlling the false discovery rate in behavior genetics research. Behav. Brain Res. 125, 279-284 (2001).
    • (2001) Behav. Brain Res. , vol.125 , pp. 279-284
    • Benjamin, Y.1    Drai, D.2    Elmer, G.3    Kafkafi, N.4    Golani, I.5
  • 55
    • 0037433040 scopus 로고    scopus 로고
    • Identifying differentially expressed genes using false discovery rate controlling procedures
    • Reiner, A., Yekutieli, D. & Benjamini, Y. Identifying differentially expressed genes using false discovery rate controlling procedures. Bioinformatics 19, 368-375 (2003).
    • (2003) Bioinformatics , vol.19 , pp. 368-375
    • Reiner, A.1    Yekutieli, D.2    Benjamini, Y.3
  • 56
    • 0028877463 scopus 로고
    • Genetic disseaction of complex traits: Guidelines for interpreting and reporting linkage results
    • Lander, E. & Kruglyak, L. Genetic disseaction of complex traits: guidelines for interpreting and reporting linkage results. Nature Genet. 11, 241-247 (1995). The authors formally address the multiple-testing problem in gene mapping and show how statistical significance can arise by chance alone due to a large number of tests performed. They provide rigorous genome-wide thresholds for testing significance based on the assumption of a dense marker map.
    • (1995) Nature Genet. , vol.11 , pp. 241-247
    • Lander, E.1    Kruglyak, L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.