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Volumn 4, Issue 2, 2002, Pages 45-61

A comprehensive review of genetic association studies

Author keywords

Association studies; Common disease; Human genetics; Polymorphisms

Indexed keywords

DISEASE PREDISPOSITION; DNA POLYMORPHISM; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; PRACTICE GUIDELINE; REVIEW; ALLELE; ENVIRONMENT; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETICS; GENOME; HUMAN; POPULATION GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 0036517472     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200203000-00002     Document Type: Review
Times cited : (1430)

References (44)
  • 1
    • 0028090414 scopus 로고
    • Genetic dissection of complex traits
    • Lander ES, Schork NJ. Genetic dissection of complex traits. Science 1994;265:2037-2048.
    • (1994) Science , vol.265 , pp. 2037-2048
    • Lander, E.S.1    Schork, N.J.2
  • 2
    • 84984932946 scopus 로고    scopus 로고
    • Population genetics-making sense out of sequence
    • Chakravarti A. Population genetics-making sense out of sequence. Nat Genet 1999; 21:56-60.
    • (1999) Nat Genet , vol.21 , pp. 56-60
    • Chakravarti, A.1
  • 3
    • 0034660559 scopus 로고    scopus 로고
    • Searching for genetic determinants in the new millennium
    • Risch NJ. Searching for genetic determinants in the new millennium. Nature 2000; 405:847-856.
    • (2000) Nature , vol.405 , pp. 847-856
    • Risch, N.J.1
  • 6
    • 0027446268 scopus 로고
    • Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein C
    • Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A 1993;90:1004-1008.
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 1004-1008
    • Dahlback, B.1    Carlsson, M.2    Svensson, P.J.3
  • 8
    • 0030071608 scopus 로고    scopus 로고
    • Molecular mechanisms of activated protein C resistance. Properties of factor V isolated from an individual with homozygosity for the Arg506 to GIn mutation in the factor V gene
    • Aparicio C, Dahlback B. Molecular mechanisms of activated protein C resistance. Properties of factor V isolated from an individual with homozygosity for the Arg506 to GIn mutation in the factor V gene. Biochem J 1996;313:467-472.
    • (1996) Biochem J , vol.313 , pp. 467-472
    • Aparicio, C.1    Dahlback, B.2
  • 10
    • 0032387846 scopus 로고    scopus 로고
    • Prevalence of the prothrombin 20210 G-to-A variant in blacks: Infants, patients with venous thrombosis, patients with myocardial infarction, and control subjects
    • Dilley A, Austin H, Hooper WC, El-Jamil M, Whitsett C, Wenger NK, Benson J, Evatt B. Prevalence of the prothrombin 20210 G-to-A variant in blacks: infants, patients with venous thrombosis, patients with myocardial infarction, and control subjects. J Lab Clin Med 1998;132:452-455.
    • (1998) J Lab Clin Med , vol.132 , pp. 452-455
    • Dilley, A.1    Austin, H.2    Hooper, W.C.3    El-Jamil, M.4    Whitsett, C.5    Wenger, N.K.6    Benson, J.7    Evatt, B.8
  • 11
    • 0026034240 scopus 로고
    • Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease
    • Kang SS, Wong PW, Susmano A, Sora J, Norusis M, Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am J Hum Genet 1991;48:536-545.
    • (1991) Am J Hum Genet , vol.48 , pp. 536-545
    • Kang, S.S.1    Wong, P.W.2    Susmano, A.3    Sora, J.4    Norusis, M.5    Ruggie, N.6
  • 15
    • 0032906750 scopus 로고    scopus 로고
    • Polymorphisms of methylenetetrahydrofolate reductase and other enzymes: Metabolic significance, risks and impact on folate requirement
    • Bailey LB, Gregory JF III. Polymorphisms of methylenetetrahydrofolate reductase and other enzymes: metabolic significance, risks and impact on folate requirement. J Nutr 1999;129:919-922.
    • (1999) J Nutr , vol.129 , pp. 919-922
    • Bailey, L.B.1    Gregory III, J.F.2
  • 19
  • 20
    • 0033607241 scopus 로고    scopus 로고
    • Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults
    • Skibola CF, Smith MT, Kane E, Roman E, Rollinson S, Cartwright RA, Morgan G. Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults. Proc Natl Acad Sci U S A 1999;96:12810-12815.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 12810-12815
    • Skibola, C.F.1    Smith, M.T.2    Kane, E.3    Roman, E.4    Rollinson, S.5    Cartwright, R.A.6    Morgan, G.7
  • 25
    • 0030823158 scopus 로고    scopus 로고
    • Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis
    • APOE and Alzheimer Disease Meta Analysis Consortium
    • Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R, Myers RH, Pericak-Vance MA, Risch N, van Duijn CM. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA 1997;278:1349-1356.
    • (1997) JAMA , vol.278 , pp. 1349-1356
    • Farrer, L.A.1    Cupples, L.A.2    Haines, J.L.3    Hyman, B.4    Kukull, W.A.5    Mayeux, R.6    Myers, R.H.7    Pericak-Vance, M.A.8    Risch, N.9    Van Duijn, C.M.10
  • 28
    • 0032952468 scopus 로고    scopus 로고
    • Freely associating
    • Freely associating. Nat Genet 1999;22:1-2.
    • (1999) Nat Genet , vol.22 , pp. 1-2
  • 30
    • 0035257236 scopus 로고    scopus 로고
    • Association study designs for complex diseases
    • Cardon LR, Bell JI. Association study designs for complex diseases. Nat Rev Genet 2001;2:91-99.
    • (2001) Nat Rev Genet , vol.2 , pp. 91-99
    • Cardon, L.R.1    Bell, J.I.2
  • 31
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
    • Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993;52:506-516.
    • (1993) Am J Hum Genet , vol.52 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 32
    • 0033358548 scopus 로고    scopus 로고
    • Use of unlinked genetic markers to detect population stratification in association studies
    • Pritchard JK, Rosenberg NA. Use of unlinked genetic markers to detect population stratification in association studies. Am J Hum Genet 1999;65:220-228.
    • (1999) Am J Hum Genet , vol.65 , pp. 220-228
    • Pritchard, J.K.1    Rosenberg, N.A.2
  • 33
    • 0032714352 scopus 로고    scopus 로고
    • Genomic control for association studies
    • Devlin B, Roeder K. Genomic control for association studies. Biometrics 1999;55: 997-1004.
    • (1999) Biometrics , vol.55 , pp. 997-1004
    • Devlin, B.1    Roeder, K.2
  • 34
    • 0035185344 scopus 로고    scopus 로고
    • Detecting association in a case-control study while correcting for population stratification
    • Reich DE, Goldstein DB. Detecting association in a case-control study while correcting for population stratification. Genet Epidemiol 2001;20:4-16.
    • (2001) Genet Epidemiol , vol.20 , pp. 4-16
    • Reich, D.E.1    Goldstein, D.B.2
  • 36
    • 0032530165 scopus 로고    scopus 로고
    • Tests and estimates of allelic association in complex inheritance
    • Motion NE, Collins A. Tests and estimates of allelic association in complex inheritance. Proc Natl Acad Sci USA 1998;95:11389-11393.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 11389-11393
    • Motion, N.E.1    Collins, A.2
  • 37
    • 0031595923 scopus 로고    scopus 로고
    • A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity
    • Deeb SS, Fajas L, Nemoto M, Pihlajamaki J, Mykkanen L, Kuusisto J, Laakso M, Fujimoto W, Auwerx J. A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nat Genet 1998;20:284-287.
    • (1998) Nat Genet , vol.20 , pp. 284-287
    • Deeb, S.S.1    Fajas, L.2    Nemoto, M.3    Pihlajamaki, J.4    Mykkanen, L.5    Kuusisto, J.6    Laakso, M.7    Fujimoto, W.8    Auwerx, J.9
  • 38
    • 0033060302 scopus 로고    scopus 로고
    • Pro12Ala substitution in the peroxisome proliferator-activated receptor- gamma2 is not associated with type 2 diabetes
    • Mancini FP, Vaccaro O, Sabatino L, Tufano A, Rivellese AA, Riccardi G, Colantuoni V. Pro12Ala substitution in the peroxisome proliferator-activated receptor- gamma2 is not associated with type 2 diabetes. Diabetes 1999;48:1466-1468.
    • (1999) Diabetes , vol.48 , pp. 1466-1468
    • Mancini, F.P.1    Vaccaro, O.2    Sabatino, L.3    Tufano, A.4    Rivellese, A.A.5    Riccardi, G.6    Colantuoni, V.7
  • 39
    • 0033582258 scopus 로고    scopus 로고
    • Pro12Ala missense mutation of the peroxisome proliferator activated receptor gamma and diabetes mellitus
    • Ringel J, Engeli S, Distler A, Sharma AM. Pro12Ala missense mutation of the peroxisome proliferator activated receptor gamma and diabetes mellitus. Biochem Biophys Res Commun 1999;254:450-453.
    • (1999) Biochem Biophys Res Commun , vol.254 , pp. 450-453
    • Ringel, J.1    Engeli, S.2    Distler, A.3    Sharma, A.M.4
  • 42
    • 0001491179 scopus 로고    scopus 로고
    • Impact of the peroxisome proliferator activated receptor gamma2 Pro12Ala polymorphism on adiposity, lipids and non-insulin-dependent diabetes mellitus
    • Meirhaeghe A, Fajas L, Helbecque N, Cottel D, Auwerx J, Deeb SS, Amouyel P. Impact of the peroxisome proliferator activated receptor gamma2 Pro12Ala polymorphism on adiposity, lipids and non-insulin-dependent diabetes mellitus. Int J Obes Relat Metab Disord 2000;24:195-199.
    • (2000) Int J Obes Relat Metab Disord , vol.24 , pp. 195-199
    • Meirhaeghe, A.1    Fajas, L.2    Helbecque, N.3    Cottel, D.4    Auwerx, J.5    Deeb, S.S.6    Amouyel, P.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.