메뉴 건너뛰기




Volumn 225, Issue 1, 2012, Pages 1-10

Genetics of coronary artery disease: Genome-wide association studies and beyond

Author keywords

Coronary artery disease; Genome wide association study; Heritability; Systems genetics

Indexed keywords

CORONARY ARTERY DISEASE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HERITABILITY; HUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84867839391     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2012.05.015     Document Type: Review
Times cited : (55)

References (95)
  • 1
    • 79751531393 scopus 로고    scopus 로고
    • Heart disease and stroke statistics-2011 update: a report from the American Heart Association
    • Roger V.L., Go A.S., Lloyd-Jones D.M., et al. Heart disease and stroke statistics-2011 update: a report from the American Heart Association. Circulation 2011, 123:e18-e209.
    • (2011) Circulation , vol.123
    • Roger, V.L.1    Go, A.S.2    Lloyd-Jones, D.M.3
  • 2
    • 0028330005 scopus 로고
    • Genetic susceptibility to death from coronary heart disease in a study of twins
    • Marenberg M.E., Risch N., Berkman L.F., et al. Genetic susceptibility to death from coronary heart disease in a study of twins. N Engl J Med 1994, 330:1041-1046.
    • (1994) N Engl J Med , vol.330 , pp. 1041-1046
    • Marenberg, M.E.1    Risch, N.2    Berkman, L.F.3
  • 3
    • 0024417535 scopus 로고
    • Coronary risk associated with age and sex of parental heart disease in the Framingham Study
    • Schildkraut J.M., Myers R.H., Cupples L.A., et al. Coronary risk associated with age and sex of parental heart disease in the Framingham Study. Am J Cardiol 1989, 64:555-559.
    • (1989) Am J Cardiol , vol.64 , pp. 555-559
    • Schildkraut, J.M.1    Myers, R.H.2    Cupples, L.A.3
  • 4
    • 0036378360 scopus 로고    scopus 로고
    • Heritability of death from coronary heart disease: a 36-year follow-up of 20 966 Swedish twins
    • Zdravkovic S., Wienke A., Pedersen N.L., et al. Heritability of death from coronary heart disease: a 36-year follow-up of 20 966 Swedish twins. J Intern Med 2002, 252:247-254.
    • (2002) J Intern Med , vol.252 , pp. 247-254
    • Zdravkovic, S.1    Wienke, A.2    Pedersen, N.L.3
  • 5
    • 78651271677 scopus 로고    scopus 로고
    • CADgene: a comprehensive database for coronary artery disease genes
    • Liu H., Liu W., Liao Y., et al. CADgene: a comprehensive database for coronary artery disease genes. Nucleic Acids Res 2011, 39:D991-D996.
    • (2011) Nucleic Acids Res , vol.39
    • Liu, H.1    Liu, W.2    Liao, Y.3
  • 6
    • 2342480580 scopus 로고    scopus 로고
    • Functional variation in LGALS2 confers risk of myocardial infarction and regulates lymphotoxin-alpha secretion in vitro
    • Ozaki K., Inoue K., Sato H., et al. Functional variation in LGALS2 confers risk of myocardial infarction and regulates lymphotoxin-alpha secretion in vitro. Nature 2004, 429:72-75.
    • (2004) Nature , vol.429 , pp. 72-75
    • Ozaki, K.1    Inoue, K.2    Sato, H.3
  • 7
    • 18744407845 scopus 로고    scopus 로고
    • Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction
    • Ozaki K., Ohnishi Y., Iida A., et al. Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet 2002, 32:650-654.
    • (2002) Nat Genet , vol.32 , pp. 650-654
    • Ozaki, K.1    Ohnishi, Y.2    Iida, A.3
  • 8
    • 34247850787 scopus 로고    scopus 로고
    • Lack of association between LTA and LGALS2 polymorphisms and myocardial infarction in Japanese and Korean populations
    • Kimura A., Takahashi M., Choi B.Y., et al. Lack of association between LTA and LGALS2 polymorphisms and myocardial infarction in Japanese and Korean populations. Tissue Antigens 2007, 69:265-269.
    • (2007) Tissue Antigens , vol.69 , pp. 265-269
    • Kimura, A.1    Takahashi, M.2    Choi, B.Y.3
  • 9
    • 61349108698 scopus 로고    scopus 로고
    • SNPs in BRAP associated with risk of myocardial infarction in Asian populations
    • Ozaki K., Sato H., Inoue K., et al. SNPs in BRAP associated with risk of myocardial infarction in Asian populations. Nat Genet 2009, 41:329-333.
    • (2009) Nat Genet , vol.41 , pp. 329-333
    • Ozaki, K.1    Sato, H.2    Inoue, K.3
  • 10
    • 84857192818 scopus 로고    scopus 로고
    • Genome-wide association study of coronary artery disease in the Japanese
    • Takeuchi F., Yokota M., Yamamoto K., et al. Genome-wide association study of coronary artery disease in the Japanese. Eur J Hum Genet 2011, 20:333-340.
    • (2011) Eur J Hum Genet , vol.20 , pp. 333-340
    • Takeuchi, F.1    Yokota, M.2    Yamamoto, K.3
  • 11
    • 61349137526 scopus 로고    scopus 로고
    • Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease
    • Tregouet D.A., Konig I.R., Erdmann J., et al. Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease. Nat Genet 2009, 41:283-285.
    • (2009) Nat Genet , vol.41 , pp. 283-285
    • Tregouet, D.A.1    Konig, I.R.2    Erdmann, J.3
  • 12
    • 70749096913 scopus 로고    scopus 로고
    • Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
    • Kathiresan S., Voight B.F., Purcell S., et al. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 2009, 41:334-341.
    • (2009) Nat Genet , vol.41 , pp. 334-341
    • Kathiresan, S.1    Voight, B.F.2    Purcell, S.3
  • 13
    • 61349177857 scopus 로고    scopus 로고
    • New susceptibility locus for coronary artery disease on chromosome 3q22.3
    • Erdmann J., Grosshennig A., Braund P.S., et al. New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet 2009, 41:280-282.
    • (2009) Nat Genet , vol.41 , pp. 280-282
    • Erdmann, J.1    Grosshennig, A.2    Braund, P.S.3
  • 14
    • 34547623750 scopus 로고    scopus 로고
    • Genomewide association analysis of coronary artery disease
    • Samani N.J., Erdmann J., Hall A.S., et al. Genomewide association analysis of coronary artery disease. N Engl J Med 2007, 357:443-453.
    • (2007) N Engl J Med , vol.357 , pp. 443-453
    • Samani, N.J.1    Erdmann, J.2    Hall, A.S.3
  • 15
    • 34249996115 scopus 로고    scopus 로고
    • A common allele on chromosome 9 associated with coronary heart disease
    • McPherson R., Pertsemlidis A., Kavaslar N., et al. A common allele on chromosome 9 associated with coronary heart disease. Science 2007, 316:1488-1491.
    • (2007) Science , vol.316 , pp. 1488-1491
    • McPherson, R.1    Pertsemlidis, A.2    Kavaslar, N.3
  • 16
    • 34250010480 scopus 로고    scopus 로고
    • A common variant on chromosome 9p21 affects the risk of myocardial infarction
    • Helgadottir A., Thorleifsson G., Manolescu A., et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 2007, 316:1491-1493.
    • (2007) Science , vol.316 , pp. 1491-1493
    • Helgadottir, A.1    Thorleifsson, G.2    Manolescu, A.3
  • 17
    • 71849106791 scopus 로고    scopus 로고
    • Prediction of cardiovascular disease outcomes and established cardiovascular risk factors by genome-wide association markers
    • Ioannidis J.P. Prediction of cardiovascular disease outcomes and established cardiovascular risk factors by genome-wide association markers. Circ Cardiovasc Genet 2009, 2:7-15.
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 7-15
    • Ioannidis, J.P.1
  • 18
    • 77952981215 scopus 로고    scopus 로고
    • Coronary heart disease risk prediction in the era of genome-wide association studies: current status and what the future holds
    • Humphries S.E., Drenos F., Ken-Dror G., et al. Coronary heart disease risk prediction in the era of genome-wide association studies: current status and what the future holds. Circulation 2010, 121:2235-2248.
    • (2010) Circulation , vol.121 , pp. 2235-2248
    • Humphries, S.E.1    Drenos, F.2    Ken-Dror, G.3
  • 19
    • 73549097512 scopus 로고    scopus 로고
    • Genetic variants associated with Lp(a) lipoprotein level and coronary disease
    • Clarke R., Peden J.F., Hopewell J.C., et al. Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med 2009, 361:2518-2528.
    • (2009) N Engl J Med , vol.361 , pp. 2518-2528
    • Clarke, R.1    Peden, J.F.2    Hopewell, J.C.3
  • 20
    • 79953204259 scopus 로고    scopus 로고
    • Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
    • Schunkert H., Konig I.R., Kathiresan S., et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet 2011, 43:333-338.
    • (2011) Nat Genet , vol.43 , pp. 333-338
    • Schunkert, H.1    Konig, I.R.2    Kathiresan, S.3
  • 21
    • 79953207296 scopus 로고    scopus 로고
    • Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population
    • Wang F., Xu C.Q., He Q., et al. Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population. Nat Genet 2011, 43:345-349.
    • (2011) Nat Genet , vol.43 , pp. 345-349
    • Wang, F.1    Xu, C.Q.2    He, Q.3
  • 22
    • 78651492334 scopus 로고    scopus 로고
    • Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23
    • Erdmann J., Willenborg C., Nahrstaedt J., et al. Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. Eur Heart J 2011, 32:158-168.
    • (2011) Eur Heart J , vol.32 , pp. 158-168
    • Erdmann, J.1    Willenborg, C.2    Nahrstaedt, J.3
  • 23
    • 79251619566 scopus 로고    scopus 로고
    • Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies
    • Reilly M.P., Li M., He J., et al. Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. Lancet 2011, 377:383-392.
    • (2011) Lancet , vol.377 , pp. 383-392
    • Reilly, M.P.1    Li, M.2    He, J.3
  • 24
    • 84860790053 scopus 로고    scopus 로고
    • A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex
    • Davies R.W., Wells G.A., Stewart A.F., et al. A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex. Circ Cardiovasc Genet 2012, 5:217-225.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 217-225
    • Davies, R.W.1    Wells, G.A.2    Stewart, A.F.3
  • 25
    • 79953221100 scopus 로고    scopus 로고
    • A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
    • The Coronary Artery Disease (C4D) Genetics Consortium
    • The Coronary Artery Disease (C4D) Genetics Consortium A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. Nat Genet 2011, 43:339-344.
    • (2011) Nat Genet , vol.43 , pp. 339-344
  • 26
    • 80052304559 scopus 로고    scopus 로고
    • Genome-wide association analysis of incident coronary heart disease (CHD) in African Americans: a short report
    • e1002199
    • Barbalic M., Reiner A.P., Wu C., et al. Genome-wide association analysis of incident coronary heart disease (CHD) in African Americans: a short report. PLoS Genet 2011, 7. e1002199.
    • (2011) PLoS Genet , vol.7
    • Barbalic, M.1    Reiner, A.P.2    Wu, C.3
  • 27
    • 80052733701 scopus 로고    scopus 로고
    • A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease
    • Wild P.S., Zeller T., Schillert A., et al. A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. Circ Cardiovasc Genet 2011, 4:403-412.
    • (2011) Circ Cardiovasc Genet , vol.4 , pp. 403-412
    • Wild, P.S.1    Zeller, T.2    Schillert, A.3
  • 28
    • 56349155783 scopus 로고    scopus 로고
    • Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies
    • e3583
    • Keating B.J., Tischfield S., Murray S.S., et al. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One 2008, 3. e3583.
    • (2008) PLoS One , vol.3
    • Keating, B.J.1    Tischfield, S.2    Murray, S.S.3
  • 29
    • 40849097776 scopus 로고    scopus 로고
    • Heritability in the genomics era-concepts and misconceptions
    • Visscher P.M., Hill W.G., Wray N.R. Heritability in the genomics era-concepts and misconceptions. Nat Rev Genet 2008, 9:255-266.
    • (2008) Nat Rev Genet , vol.9 , pp. 255-266
    • Visscher, P.M.1    Hill, W.G.2    Wray, N.R.3
  • 30
    • 77958102016 scopus 로고    scopus 로고
    • Statistical analysis strategies for association studies involving rare variants
    • Bansal V., Libiger O., Torkamani A., et al. Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet 2010, 11:773-785.
    • (2010) Nat Rev Genet , vol.11 , pp. 773-785
    • Bansal, V.1    Libiger, O.2    Torkamani, A.3
  • 31
    • 77952574849 scopus 로고    scopus 로고
    • Uncovering the roles of rare variants in common disease through whole-genome sequencing
    • Cirulli E.T., Goldstein D.B. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 2010, 11:415-425.
    • (2010) Nat Rev Genet , vol.11 , pp. 415-425
    • Cirulli, E.T.1    Goldstein, D.B.2
  • 32
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio T.A., Collins F.S., Cox N.J., et al. Finding the missing heritability of complex diseases. Nature 2009, 461:747-753.
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1    Collins, F.S.2    Cox, N.J.3
  • 33
    • 58149328823 scopus 로고    scopus 로고
    • Extending genome-wide association studies to copy-number variation
    • McCarroll S.A. Extending genome-wide association studies to copy-number variation. Hum Mol Genet 2008, 17:R135-R142.
    • (2008) Hum Mol Genet , vol.17
    • McCarroll, S.A.1
  • 34
    • 77952557918 scopus 로고    scopus 로고
    • Missing heritability and strategies for finding the underlying causes of complex disease
    • Eichler E.E., Flint J., Gibson G., et al. Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet 2010, 11:446-450.
    • (2010) Nat Rev Genet , vol.11 , pp. 446-450
    • Eichler, E.E.1    Flint, J.2    Gibson, G.3
  • 35
    • 34948877698 scopus 로고    scopus 로고
    • Prediction of individual genetic risk to disease from genome-wide association studies
    • Wray N.R., Goddard M.E., Visscher P.M. Prediction of individual genetic risk to disease from genome-wide association studies. Genome Res 2007, 17:1520-1528.
    • (2007) Genome Res , vol.17 , pp. 1520-1528
    • Wray, N.R.1    Goddard, M.E.2    Visscher, P.M.3
  • 36
    • 77954133026 scopus 로고    scopus 로고
    • Estimation of effect size distribution from genome-wide association studies and implications for future discoveries
    • Park J.H., Wacholder S., Gail M.H., et al. Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat Genet 2010, 42:570-575.
    • (2010) Nat Genet , vol.42 , pp. 570-575
    • Park, J.H.1    Wacholder, S.2    Gail, M.H.3
  • 37
    • 78649374846 scopus 로고    scopus 로고
    • Design of the coronary ARtery DIsease genome-wide replication and meta-analysis (CARDIoGRAM) study: a genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls
    • Preuss M., Konig I.R., Thompson J.R., et al. Design of the coronary ARtery DIsease genome-wide replication and meta-analysis (CARDIoGRAM) study: a genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls. Circ Cardiovasc Genet 2010, 3:475-483.
    • (2010) Circ Cardiovasc Genet , vol.3 , pp. 475-483
    • Preuss, M.1    Konig, I.R.2    Thompson, J.R.3
  • 38
    • 84910815452 scopus 로고
    • Lp(a) lipoprotein as a risk factor for myocardial infarction
    • Rhoads G.G., Dahlen G., Berg K., et al. Lp(a) lipoprotein as a risk factor for myocardial infarction. JAMA 1986, 256:2540-2544.
    • (1986) JAMA , vol.256 , pp. 2540-2544
    • Rhoads, G.G.1    Dahlen, G.2    Berg, K.3
  • 39
    • 0031029533 scopus 로고    scopus 로고
    • The age dependency of gene expression for plasma lipids, lipoproteins, and apolipoproteins
    • Snieder H., van Doornen L.J., Boomsma D.I. The age dependency of gene expression for plasma lipids, lipoproteins, and apolipoproteins. Am J Hum Genet 1997, 60:638-650.
    • (1997) Am J Hum Genet , vol.60 , pp. 638-650
    • Snieder, H.1    van Doornen, L.J.2    Boomsma, D.I.3
  • 40
    • 0033398918 scopus 로고    scopus 로고
    • Dissecting the genetic architecture of lipids, lipoproteins, and apolipoproteins: lessons from twin studies
    • Snieder H., van Doornen L.J., Boomsma D.I. Dissecting the genetic architecture of lipids, lipoproteins, and apolipoproteins: lessons from twin studies. Arterioscler Thromb Vasc Biol 1999, 19:2826-2834.
    • (1999) Arterioscler Thromb Vasc Biol , vol.19 , pp. 2826-2834
    • Snieder, H.1    van Doornen, L.J.2    Boomsma, D.I.3
  • 41
    • 0041877724 scopus 로고    scopus 로고
    • Two-locus linkage analysis applied to putative quantitative trait loci for lipoprotein(a) levels
    • Beekman M., Heijmans B.T., Martin N.G., et al. Two-locus linkage analysis applied to putative quantitative trait loci for lipoprotein(a) levels. Twin Res 2003, 6:322-324.
    • (2003) Twin Res , vol.6 , pp. 322-324
    • Beekman, M.1    Heijmans, B.T.2    Martin, N.G.3
  • 42
    • 0026667073 scopus 로고
    • Apolipoprotein(a) gene accounts for greater than 90% of the variation in plasma lipoprotein(a) concentrations
    • Boerwinkle E., Leffert C.C., Lin J., et al. Apolipoprotein(a) gene accounts for greater than 90% of the variation in plasma lipoprotein(a) concentrations. J Clin Invest 1992, 90:52-60.
    • (1992) J Clin Invest , vol.90 , pp. 52-60
    • Boerwinkle, E.1    Leffert, C.C.2    Lin, J.3
  • 43
    • 27544503450 scopus 로고    scopus 로고
    • Identification of QTLs for serum lipid levels in a female sib-pair cohort: a novel application to improve the power of two-locus linkage analysis
    • Falchi M., Andrew T., Snieder H., et al. Identification of QTLs for serum lipid levels in a female sib-pair cohort: a novel application to improve the power of two-locus linkage analysis. Hum Mol Genet 2005, 14:2971-2979.
    • (2005) Hum Mol Genet , vol.14 , pp. 2971-2979
    • Falchi, M.1    Andrew, T.2    Snieder, H.3
  • 44
    • 70349662968 scopus 로고    scopus 로고
    • Gene-gene and gene-environment interactions: new insights into the prevention, detection and management of coronary artery disease
    • Lanktree M.B., Hegele R.A. Gene-gene and gene-environment interactions: new insights into the prevention, detection and management of coronary artery disease. Genome Med 2009, 1:28.
    • (2009) Genome Med , vol.1 , pp. 28
    • Lanktree, M.B.1    Hegele, R.A.2
  • 45
    • 79953691816 scopus 로고    scopus 로고
    • Conventional and Mendelian randomization analyses suggest no association between lipoprotein(a) and early atherosclerosis: the Young Finns Study
    • Kivimaki M., Magnussen C.G., Juonala M., et al. Conventional and Mendelian randomization analyses suggest no association between lipoprotein(a) and early atherosclerosis: the Young Finns Study. Int J Epidemiol 2011, 40:470-478.
    • (2011) Int J Epidemiol , vol.40 , pp. 470-478
    • Kivimaki, M.1    Magnussen, C.G.2    Juonala, M.3
  • 46
    • 36549036104 scopus 로고    scopus 로고
    • The genetic basis of complex traits: rare variants or "common gene, common disease"?
    • Iyengar S.K., Elston R.C. The genetic basis of complex traits: rare variants or "common gene, common disease"?. Methods Mol Biol 2007, 376:71-84.
    • (2007) Methods Mol Biol , vol.376 , pp. 71-84
    • Iyengar, S.K.1    Elston, R.C.2
  • 47
    • 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 2001, 69:124-137.
    • (2001) Am J Hum Genet , vol.69 , pp. 124-137
    • Pritchard, J.K.1
  • 48
    • 38749145596 scopus 로고    scopus 로고
    • Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms
    • Gorlov I.P., Gorlova O.Y., Sunyaev S.R., et al. Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet 2008, 82:100-112.
    • (2008) Am J Hum Genet , vol.82 , pp. 100-112
    • Gorlov, I.P.1    Gorlova, O.Y.2    Sunyaev, S.R.3
  • 49
    • 33947095027 scopus 로고    scopus 로고
    • A human phenome-interactome network of protein complexes implicated in genetic disorders
    • Lage K., Karlberg E.O., Storling Z.M., et al. A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotechnol 2007, 25:309-316.
    • (2007) Nat Biotechnol , vol.25 , pp. 309-316
    • Lage, K.1    Karlberg, E.O.2    Storling, Z.M.3
  • 50
    • 76649122154 scopus 로고    scopus 로고
    • Detecting rare variants for complex traits using family and unrelated data
    • Zhu X., Feng T., Li Y., et al. Detecting rare variants for complex traits using family and unrelated data. Genet Epidemiol 2010, 34:171-187.
    • (2010) Genet Epidemiol , vol.34 , pp. 171-187
    • Zhu, X.1    Feng, T.2    Li, Y.3
  • 51
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J., Lakshmi B., Troge J., et al. Large-scale copy number polymorphism in the human genome. Science 2004, 305:525-528.
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3
  • 52
    • 76349083132 scopus 로고    scopus 로고
    • Large, rare chromosomal deletions associated with severe early-onset obesity
    • Bochukova E.G., Huang N., Keogh J., et al. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 2010, 463:666-670.
    • (2010) Nature , vol.463 , pp. 666-670
    • Bochukova, E.G.1    Huang, N.2    Keogh, J.3
  • 53
    • 0030014389 scopus 로고    scopus 로고
    • Apolipoprotein(a) kringle IV repeat number predicts risk for coronary heart disease
    • Kraft H.G., Lingenhel A., Kochl S., et al. Apolipoprotein(a) kringle IV repeat number predicts risk for coronary heart disease. Arterioscler Thromb Vasc Biol 1996, 16:713-719.
    • (1996) Arterioscler Thromb Vasc Biol , vol.16 , pp. 713-719
    • Kraft, H.G.1    Lingenhel, A.2    Kochl, S.3
  • 54
    • 0034070324 scopus 로고    scopus 로고
    • High CA repeat numbers in intron 13 of the endothelial nitric oxide synthase gene and increased risk of coronary artery disease
    • Stangl K., Cascorbi I., Laule M., et al. High CA repeat numbers in intron 13 of the endothelial nitric oxide synthase gene and increased risk of coronary artery disease. Pharmacogenetics 2000, 10:133-140.
    • (2000) Pharmacogenetics , vol.10 , pp. 133-140
    • Stangl, K.1    Cascorbi, I.2    Laule, M.3
  • 55
    • 33645928247 scopus 로고    scopus 로고
    • Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease
    • Yuan G., Wang J., Hegele R.A. Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease. CMAJ 2006, 174:1124-1129.
    • (2006) CMAJ , vol.174 , pp. 1124-1129
    • Yuan, G.1    Wang, J.2    Hegele, R.A.3
  • 56
    • 77950405093 scopus 로고    scopus 로고
    • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
    • Craddock N., Hurles M.E., Cardin N., et al. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 2010, 464:713-720.
    • (2010) Nature , vol.464 , pp. 713-720
    • Craddock, N.1    Hurles, M.E.2    Cardin, N.3
  • 57
    • 41149133845 scopus 로고    scopus 로고
    • Molecular basis for LDL receptor recognition by PCSK9
    • Kwon H.J., Lagace T.A., McNutt M.C., et al. Molecular basis for LDL receptor recognition by PCSK9. Proc Natl Acad Sci U S A 2008, 105:1820-1825.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 1820-1825
    • Kwon, H.J.1    Lagace, T.A.2    McNutt, M.C.3
  • 58
    • 67349166946 scopus 로고    scopus 로고
    • Detecting gene-gene interactions that underlie human diseases
    • Cordell H.J. Detecting gene-gene interactions that underlie human diseases. Nat Rev Genet 2009, 10:392-404.
    • (2009) Nat Rev Genet , vol.10 , pp. 392-404
    • Cordell, H.J.1
  • 59
    • 77449140764 scopus 로고    scopus 로고
    • Gene and pathway-based second-wave analysis of genome-wide association studies
    • Peng G., Luo L., Siu H., et al. Gene and pathway-based second-wave analysis of genome-wide association studies. Eur J Hum Genet 2010, 18:111-117.
    • (2010) Eur J Hum Genet , vol.18 , pp. 111-117
    • Peng, G.1    Luo, L.2    Siu, H.3
  • 60
    • 58149159573 scopus 로고    scopus 로고
    • Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
    • Sabatti C., Service S.K., Hartikainen A.L., et al. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet 2009, 41:35-46.
    • (2009) Nat Genet , vol.41 , pp. 35-46
    • Sabatti, C.1    Service, S.K.2    Hartikainen, A.L.3
  • 61
    • 77954671615 scopus 로고    scopus 로고
    • Repetitive element DNA methylation and circulating endothelial and inflammation markers in the VA normative aging study
    • Baccarelli A., Tarantini L., Wright R.O., et al. Repetitive element DNA methylation and circulating endothelial and inflammation markers in the VA normative aging study. Epigenetics 2010, 5.
    • (2010) Epigenetics , vol.5
    • Baccarelli, A.1    Tarantini, L.2    Wright, R.O.3
  • 62
    • 76549135113 scopus 로고    scopus 로고
    • Evolution in health and medicine Sackler colloquium: stochastic epigenetic variation as a driving force of development, evolutionary adaptation, and disease
    • Feinberg A.P., Irizarry R.A. Evolution in health and medicine Sackler colloquium: stochastic epigenetic variation as a driving force of development, evolutionary adaptation, and disease. Proc Natl Acad Sci U S A 2010, 107(Suppl. 1):1757-1764.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , Issue.SUPPL. 1 , pp. 1757-1764
    • Feinberg, A.P.1    Irizarry, R.A.2
  • 63
    • 72449122779 scopus 로고    scopus 로고
    • Parental origin of sequence variants associated with complex diseases
    • Kong A., Steinthorsdottir V., Masson G., et al. Parental origin of sequence variants associated with complex diseases. Nature 2009, 462:868-874.
    • (2009) Nature , vol.462 , pp. 868-874
    • Kong, A.1    Steinthorsdottir, V.2    Masson, G.3
  • 64
    • 0041866794 scopus 로고    scopus 로고
    • Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease
    • Castro R., Rivera I., Struys E.A., et al. Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease. Clin Chem 2003, 49:1292-1296.
    • (2003) Clin Chem , vol.49 , pp. 1292-1296
    • Castro, R.1    Rivera, I.2    Struys, E.A.3
  • 65
    • 77953825565 scopus 로고    scopus 로고
    • DNA methylation as a biomarker for cardiovascular disease risk
    • e9692
    • Kim M., Long T.I., Arakawa K., et al. DNA methylation as a biomarker for cardiovascular disease risk. PLoS One 2010, 5. e9692.
    • (2010) PLoS One , vol.5
    • Kim, M.1    Long, T.I.2    Arakawa, K.3
  • 66
    • 47049083725 scopus 로고    scopus 로고
    • Detection of altered global DNA methylation in coronary artery disease patients
    • Sharma P., Kumar J., Garg G., et al. Detection of altered global DNA methylation in coronary artery disease patients. DNA Cell Biol 2008, 27:357-365.
    • (2008) DNA Cell Biol , vol.27 , pp. 357-365
    • Sharma, P.1    Kumar, J.2    Garg, G.3
  • 67
    • 79952048799 scopus 로고    scopus 로고
    • Genetics Systems genetics
    • Nadeau J.H., Dudley A.M., Genetics Systems genetics. Science 2011, 331:1015-1016.
    • (2011) Science , vol.331 , pp. 1015-1016
    • Nadeau, J.H.1    Dudley, A.M.2
  • 68
    • 79953062931 scopus 로고    scopus 로고
    • Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma
    • Morris M.R., Ricketts C.J., Gentle D., et al. Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma. Oncogene 2011, 30:1390-1401.
    • (2011) Oncogene , vol.30 , pp. 1390-1401
    • Morris, M.R.1    Ricketts, C.J.2    Gentle, D.3
  • 69
    • 77949424325 scopus 로고    scopus 로고
    • Genome-wide expression analysis of paired diagnosis-relapse samples in ALL indicates involvement of pathways related to DNA replication, cell cycle and DNA repair, independent of immune phenotype
    • Staal F.J., de Ridder D., Szczepanski T., et al. Genome-wide expression analysis of paired diagnosis-relapse samples in ALL indicates involvement of pathways related to DNA replication, cell cycle and DNA repair, independent of immune phenotype. Leukemia 2010, 24:491-499.
    • (2010) Leukemia , vol.24 , pp. 491-499
    • Staal, F.J.1    de Ridder, D.2    Szczepanski, T.3
  • 70
    • 77955505564 scopus 로고    scopus 로고
    • Biological, clinical and population relevance of 95 loci for blood lipids
    • Teslovich T.M., Musunuru K., Smith A.V., et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010, 466:707-713.
    • (2010) Nature , vol.466 , pp. 707-713
    • Teslovich, T.M.1    Musunuru, K.2    Smith, A.V.3
  • 71
    • 75749134031 scopus 로고    scopus 로고
    • A genome-wide perspective of genetic variation in human metabolism
    • Illig T., Gieger C., Zhai G., et al. A genome-wide perspective of genetic variation in human metabolism. Nat Genet 2010, 42:137-141.
    • (2010) Nat Genet , vol.42 , pp. 137-141
    • Illig, T.1    Gieger, C.2    Zhai, G.3
  • 72
    • 59149100506 scopus 로고    scopus 로고
    • System-wide molecular evidence for phenotypic buffering in Arabidopsis
    • Fu J., Keurentjes J.J., Bouwmeester H., et al. System-wide molecular evidence for phenotypic buffering in Arabidopsis. Nat Genet 2009, 41:166-167.
    • (2009) Nat Genet , vol.41 , pp. 166-167
    • Fu, J.1    Keurentjes, J.J.2    Bouwmeester, H.3
  • 73
    • 57749193136 scopus 로고    scopus 로고
    • Detecting shared pathogenesis from the shared genetics of immune-related diseases
    • Zhernakova A., van Diemen C.C., Wijmenga C. Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet 2009, 10:43-55.
    • (2009) Nat Rev Genet , vol.10 , pp. 43-55
    • Zhernakova, A.1    van Diemen, C.C.2    Wijmenga, C.3
  • 74
    • 60349092402 scopus 로고    scopus 로고
    • Mapping complex disease traits with global gene expression
    • Cookson W., Liang L., Abecasis G., et al. Mapping complex disease traits with global gene expression. Nat Rev Genet 2009, 10:184-194.
    • (2009) Nat Rev Genet , vol.10 , pp. 184-194
    • Cookson, W.1    Liang, L.2    Abecasis, G.3
  • 75
    • 80052322958 scopus 로고    scopus 로고
    • Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA
    • e1002197
    • Fehrmann R.S., Jansen R.C., Veldink J.H., et al. Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. PLoS Genet 2011, 7. e1002197.
    • (2011) PLoS Genet , vol.7
    • Fehrmann, R.S.1    Jansen, R.C.2    Veldink, J.H.3
  • 76
    • 77955499945 scopus 로고    scopus 로고
    • From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
    • Musunuru K., Strong A., Frank-Kamenetsky M., et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 2010, 466:714-719.
    • (2010) Nature , vol.466 , pp. 714-719
    • Musunuru, K.1    Strong, A.2    Frank-Kamenetsky, M.3
  • 77
    • 69949176863 scopus 로고    scopus 로고
    • Common regulatory variation impacts gene expression in a cell type-dependent manner
    • Dimas A.S., Deutsch S., Stranger B.E., et al. Common regulatory variation impacts gene expression in a cell type-dependent manner. Science 2009, 325:1246-1250.
    • (2009) Science , vol.325 , pp. 1246-1250
    • Dimas, A.S.1    Deutsch, S.2    Stranger, B.E.3
  • 78
    • 73349119114 scopus 로고    scopus 로고
    • Expression quantitative trait loci are highly sensitive to cellular differentiation state
    • e1000692
    • Gerrits A., Li Y., Tesson B.M., et al. Expression quantitative trait loci are highly sensitive to cellular differentiation state. PLoS Genet 2009, 5. e1000692.
    • (2009) PLoS Genet , vol.5
    • Gerrits, A.1    Li, Y.2    Tesson, B.M.3
  • 79
    • 79952256739 scopus 로고    scopus 로고
    • The architecture of gene regulatory variation across multiple human tissues: the MuTHER study
    • e1002003
    • Nica A.C., Parts L., Glass D., et al. The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet 2011, 7. e1002003.
    • (2011) PLoS Genet , vol.7
    • Nica, A.C.1    Parts, L.2    Glass, D.3
  • 80
    • 84857487802 scopus 로고    scopus 로고
    • Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression
    • e1002431
    • Fu J., Wolfs M.G., Deelen P., et al. Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression. PLoS Genet 2012, 8. e1002431.
    • (2012) PLoS Genet , vol.8
    • Fu, J.1    Wolfs, M.G.2    Deelen, P.3
  • 81
    • 33845976693 scopus 로고    scopus 로고
    • Mapping determinants of gene expression plasticity by genetical genomics in C. elegans
    • e222
    • Li Y., Alvarez O.A., Gutteling E.W., et al. Mapping determinants of gene expression plasticity by genetical genomics in C. elegans. PLoS Genet 2006, 2. e222.
    • (2006) PLoS Genet , vol.2
    • Li, Y.1    Alvarez, O.A.2    Gutteling, E.W.3
  • 82
    • 33748797136 scopus 로고    scopus 로고
    • Genes, environment and the value of prospective cohort studies
    • Manolio T.A., Bailey-Wilson J.E., Collins F.S. Genes, environment and the value of prospective cohort studies. Nat Rev Genet 2006, 7:812-820.
    • (2006) Nat Rev Genet , vol.7 , pp. 812-820
    • Manolio, T.A.1    Bailey-Wilson, J.E.2    Collins, F.S.3
  • 83
    • 38349132543 scopus 로고    scopus 로고
    • Universal risk factors for multifactorial diseases: lifelines: a three-generation population-based study
    • Stolk R.P., Rosmalen J.G., Postma D.S., et al. Universal risk factors for multifactorial diseases: lifelines: a three-generation population-based study. Eur J Epidemiol 2008, 23:67-74.
    • (2008) Eur J Epidemiol , vol.23 , pp. 67-74
    • Stolk, R.P.1    Rosmalen, J.G.2    Postma, D.S.3
  • 84
    • 78549270383 scopus 로고    scopus 로고
    • Critical reasoning on causal inference in genome-wide linkage and association studies
    • Li Y., Tesson B.M., Churchill G.A., et al. Critical reasoning on causal inference in genome-wide linkage and association studies. Trends Genet 2010, 26:493-498.
    • (2010) Trends Genet , vol.26 , pp. 493-498
    • Li, Y.1    Tesson, B.M.2    Churchill, G.A.3
  • 85
    • 79952489475 scopus 로고    scopus 로고
    • Estimating missing heritability for disease from genome-wide association studies
    • Lee S.H., Wray N.R., Goddard M.E., et al. Estimating missing heritability for disease from genome-wide association studies. Am J Hum Genet 2011, 88:294-305.
    • (2011) Am J Hum Genet , vol.88 , pp. 294-305
    • Lee, S.H.1    Wray, N.R.2    Goddard, M.E.3
  • 86
    • 77954140531 scopus 로고    scopus 로고
    • Common SNPs explain a large proportion of the heritability for human height
    • Yang J., Benyamin B., McEvoy B.P., et al. Common SNPs explain a large proportion of the heritability for human height. Nat Genet 2010, 42:565-569.
    • (2010) Nat Genet , vol.42 , pp. 565-569
    • Yang, J.1    Benyamin, B.2    McEvoy, B.P.3
  • 87
    • 79957588287 scopus 로고    scopus 로고
    • Genome partitioning of genetic variation for complex traits using common SNPs
    • Yang J., Manolio T.A., Pasquale L.R., et al. Genome partitioning of genetic variation for complex traits using common SNPs. Nat Genet 2011, 43:519-525.
    • (2011) Nat Genet , vol.43 , pp. 519-525
    • Yang, J.1    Manolio, T.A.2    Pasquale, L.R.3
  • 88
    • 77249134594 scopus 로고    scopus 로고
    • Rare variants create synthetic genome-wide associations
    • e1000294
    • Dickson S.P., Wang K., Krantz I., et al. Rare variants create synthetic genome-wide associations. PLoS Biol 2010, 8. e1000294.
    • (2010) PLoS Biol , vol.8
    • Dickson, S.P.1    Wang, K.2    Krantz, I.3
  • 89
    • 79851468862 scopus 로고    scopus 로고
    • Synthetic associations are unlikely to account for many common disease genome-wide association signals
    • e1000580
    • Anderson C.A., Soranzo N., Zeggini E., et al. Synthetic associations are unlikely to account for many common disease genome-wide association signals. PLoS Biol 2011, 9. e1000580.
    • (2011) PLoS Biol , vol.9
    • Anderson, C.A.1    Soranzo, N.2    Zeggini, E.3
  • 90
    • 79851487367 scopus 로고    scopus 로고
    • Synthetic associations created by rare variants do not explain most GWAS results
    • e1000579
    • Wray N.R., Purcell S.M., Visscher P.M. Synthetic associations created by rare variants do not explain most GWAS results. PLoS Biol 2011, 9. e1000579.
    • (2011) PLoS Biol , vol.9
    • Wray, N.R.1    Purcell, S.M.2    Visscher, P.M.3
  • 92
    • 84856405512 scopus 로고    scopus 로고
    • The mystery of missing heritability: genetic interactions create phantom heritability
    • Zuk O., Hechter E., Sunyaev S.R., et al. The mystery of missing heritability: genetic interactions create phantom heritability. Proc Natl Acad Sci U S A 2012, 109:1193-1198.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. 1193-1198
    • Zuk, O.1    Hechter, E.2    Sunyaev, S.R.3
  • 93
    • 33645760679 scopus 로고    scopus 로고
    • Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings
    • e41
    • Visscher P.M., Medland S.E., Ferreira M.A., et al. Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. PLoS Genet 2006, 2. e41.
    • (2006) PLoS Genet , vol.2
    • Visscher, P.M.1    Medland, S.E.2    Ferreira, M.A.3
  • 94
    • 79960527515 scopus 로고    scopus 로고
    • The future of model organisms in human disease research
    • Aitman T.J., Boone C., Churchill G.A., et al. The future of model organisms in human disease research. Nat Rev Genet 2011, 12:575-582.
    • (2011) Nat Rev Genet , vol.12 , pp. 575-582
    • Aitman, T.J.1    Boone, C.2    Churchill, G.A.3
  • 95
    • 77951589703 scopus 로고    scopus 로고
    • Clinical assessment incorporating a personal genome
    • Ashley E.A., Butte A.J., Wheeler M.T., et al. Clinical assessment incorporating a personal genome. Lancet 2010, 375:1525-1535.
    • (2010) Lancet , vol.375 , pp. 1525-1535
    • Ashley, E.A.1    Butte, A.J.2    Wheeler, M.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.