메뉴 건너뛰기




Volumn 13, Issue 11, 2012, Pages 759-769

Genetic variation in metabolic phenotypes: Study designs and applications

Author keywords

[No Author keywords available]

Indexed keywords

ENVIRONMENTAL FACTOR; GENE INTERACTION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LIFESTYLE; METABOLOME; METABOLOMICS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84867744660     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg3314     Document Type: Review
Times cited : (150)

References (59)
  • 1
    • 50749093820 scopus 로고
    • The incidence of alkaptonuria a study in chemical individuality
    • Garrod, A. E. The incidence of alkaptonuria a study in chemical individuality. Lancet 2, 1616-1620 (1902).
    • (1902) Lancet , vol.2 , pp. 1616-1620
    • Garrod, A.E.1
  • 2
    • 75749137766 scopus 로고    scopus 로고
    • Inborn variation in metabolism
    • Mootha, V. K. & Hirschhorn, J. N. Inborn variation in metabolism. Nature Genet. 42, 97-98 (2010).
    • (2010) Nature Genet , vol.42 , pp. 97-98
    • Mootha, V.K.1    Hirschhorn, J.N.2
  • 4
    • 79951892537 scopus 로고    scopus 로고
    • The human serum metabolome
    • Psychogios, N. et al. The human serum metabolome. PLoS ONE 6, e16957 (2011).
    • (2011) PLoS ONE , vol.6
    • Psychogios, N.1
  • 5
    • 49949104757 scopus 로고    scopus 로고
    • SLCO1B1 variants and statin-induced myopathy\a genomewide study
    • Link, E. et al. SLCO1B1 variants and statin-induced myopathy\a genomewide study. N. Engl. J. Med. 359, 789-799 (2008).
    • (2008) N. Engl. J. Med. , vol.359 , pp. 789-799
    • Link, E.1
  • 6
    • 79960328265 scopus 로고    scopus 로고
    • FADS1 genetic variability interacts with dietary α-linolenic acid intake to affect serum non-HDL-cholesterol concentrations in European adolescents
    • Dumont, J. et al. FADS1 genetic variability interacts with dietary α-linolenic acid intake to affect serum non-HDL-cholesterol concentrations in European adolescents. J. Nutr. 141, 1247-1253 (2011).
    • (2011) J. Nutr. , vol.141 , pp. 1247-1253
    • Dumont, J.1
  • 7
    • 77954613710 scopus 로고    scopus 로고
    • Dietary n-3 and n-6 polyunsaturated fatty acid intake interacts with FADS1 genetic variation to affect total and HDL-cholesterol concentrations in the Doetinchem Cohort Study
    • Lu, Y. et al. Dietary n-3 and n-6 polyunsaturated fatty acid intake interacts with FADS1 genetic variation to affect total and HDL-cholesterol concentrations in the Doetinchem Cohort Study. Am. J. Clin. Nutr. 92, 258-265 (2010).
    • (2010) Am. J. Clin. Nutr. , vol.92 , pp. 258-265
    • Lu, Y.1
  • 8
    • 84861790964 scopus 로고    scopus 로고
    • The dynamic range of the human metabolome revealed by challenges
    • Krug, S. et al. The dynamic range of the human metabolome revealed by challenges. FASEB J. 26, 2607-2619 (2012).
    • (2012) FASEB J , vol.26 , pp. 2607-2619
    • Krug, S.1
  • 9
    • 80052400897 scopus 로고    scopus 로고
    • Human metabolic profiles are stably controlled by genetic and environmental variation
    • Nicholson, G. et al. Human metabolic profiles are stably controlled by genetic and environmental variation. Mol. Syst. Biol. 7, 525 (2011).
    • (2011) Mol. Syst. Biol. , vol.7 , pp. 525
    • Nicholson, G.1
  • 10
    • 84857648463 scopus 로고    scopus 로고
    • Genome-wide association study identifies multiple loci influencing human serum metabolite levels
    • Kettunen, J. et al. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. Nature Genet. 44, 269-276 (2012).
    • (2012) Nature Genet , vol.44 , pp. 269-276
    • Kettunen, J.1
  • 11
    • 78649735772 scopus 로고    scopus 로고
    • Metabolic footprint of diabetes: A multiplatform metabolomics study in an epidemiological setting
    • Suhre, K. et al. Metabolic footprint of diabetes: a multiplatform metabolomics study in an epidemiological setting. PLoS ONE 5, e13953 (2010).
    • (2010) PLoS ONE , vol.5
    • Suhre, K.1
  • 12
    • 80052314547 scopus 로고    scopus 로고
    • Discovery of sexual dimorphisms in metabolic and genetic biomarkers
    • Mittelstrass, K. et al. Discovery of sexual dimorphisms in metabolic and genetic biomarkers. PLoS Genet. 7, e1002215 (2011).
    • (2011) PLoS Genet , vol.7
    • Mittelstrass, K.1
  • 13
    • 80053456207 scopus 로고    scopus 로고
    • A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection
    • Nicholson, G. et al. A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. PLoS Genet. 7, e1002270 (2011).
    • (2011) PLoS Genet. , vol.7
    • Nicholson, G.1
  • 14
    • 79957604338 scopus 로고    scopus 로고
    • A genome-wide association study of metabolic traits in human urine
    • Suhre, K. et al. A genome-wide association study of metabolic traits in human urine. Nature Genet. 43, 565-569 (2011).
    • (2011) Nature Genet. , vol.43 , pp. 565-569
    • Suhre, K.1
  • 15
    • 80052398214 scopus 로고    scopus 로고
    • Human metabolic individuality in biomedical and pharmaceutical research
    • Suhre, K. et al. Human metabolic individuality in biomedical and pharmaceutical research. Nature 477, 54-60 (2011).
    • (2011) Nature , vol.477 , pp. 54-60
    • Suhre, K.1
  • 16
    • 75749134031 scopus 로고    scopus 로고
    • A genome-wide perspective of genetic variation in human metabolism
    • Illig, T. et al. A genome-wide perspective of genetic variation in human metabolism. Nature Genet. 42, 137-141 (2010).
    • (2010) Nature Genet. , vol.42 , pp. 137-141
    • Illig, T.1
  • 18
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007).
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 559-575
    • Purcell, S.1
  • 19
    • 0036338150 scopus 로고    scopus 로고
    • Merlin\rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis, G. R., Cherny, S. S., Cookson, W. O. & Cardon, L. R. Merlin\rapid analysis of dense genetic maps using sparse gene flow trees. Nature Genet. 30, 97-101 (2002).
    • (2002) Nature Genet , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 20
    • 77953808087 scopus 로고    scopus 로고
    • Genotype imputation for genome-wide association studies
    • Marchini, J. & Howie, B. Genotype imputation for genome-wide association studies. Nature Rev. Genet. 11, 499-511 (2010).
    • (2010) Nature Rev. Genet. , vol.11 , pp. 499-511
    • Marchini, J.1    Howie, B.2
  • 21
    • 57149114936 scopus 로고    scopus 로고
    • Genetics meets metabolomics: A genome-wide association study of metabolite profiles in human serum
    • Gieger, C. et al. Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. PLoS Genet. 4, e1000282 (2008).
    • (2008) PLoS Genet , vol.4
    • Gieger, C.1
  • 22
    • 59249096217 scopus 로고    scopus 로고
    • Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI study
    • Tanaka, T. et al. Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI study. PLoS Genet. 5, e1000338 (2009).
    • (2009) PLoS Genet , vol.5
    • Tanaka, T.1
  • 23
    • 73449117605 scopus 로고    scopus 로고
    • Genetic determinants of circulating sphingolipid concentrations in European populations
    • Hicks, A. A. et al. Genetic determinants of circulating sphingolipid concentrations in European populations. PLoS Genet. 5, e1000672 (2009).
    • (2009) PLoS Genet , vol.5
    • Hicks, A.A.1
  • 24
    • 84859190557 scopus 로고    scopus 로고
    • Genome-wide association study identifies novel loci associated with circulating phospho-and sphingolipid concentrations
    • Demirkan, A. et al. Genome-wide association study identifies novel loci associated with circulating phospho-and sphingolipid concentrations. PLoS Genet. 8, e1002490 (2012).
    • (2012) PLoS Genet , vol.8
    • Demirkan, A.1
  • 25
    • 58149202163 scopus 로고    scopus 로고
    • HMDB: A knowledgebase for the human metabolome
    • Wishart, D. S. et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 37, D603-D610 (2009).
    • (2009) Nucleic Acids Res , vol.37
    • Wishart, D.S.1
  • 26
    • 84858983547 scopus 로고    scopus 로고
    • KEGG for integration and interpretation of large-scale molecular data sets
    • Kanehisa, M., Goto, S., Sato, Y., Furumichi, M. & Tanabe, M. KEGG for integration and interpretation of large-scale molecular data sets. Nucleic Acids Res. 40, D109-D114 (2012).
    • (2012) Nucleic Acids Res. , vol.40
    • Kanehisa, M.1    Goto, S.2    Sato, Y.3    Furumichi, M.4    Tanabe, M.5
  • 27
    • 46349084465 scopus 로고    scopus 로고
    • Bioinformatics analysis of targeted metabolomics-uncovering old and new tales of diabetic mice under medication
    • Altmaier, E. et al. Bioinformatics analysis of targeted metabolomics-uncovering old and new tales of diabetic mice under medication. Endocrinology 149, 3478-3489 (2008).
    • (2008) Endocrinology , vol.149 , pp. 3478-3489
    • Altmaier, E.1
  • 28
    • 84861810217 scopus 로고    scopus 로고
    • On the hypothesis-free testing of metabolite ratios in genome-wide and metabolome-wide association studies
    • Petersen, A. K. et al. On the hypothesis-free testing of metabolite ratios in genome-wide and metabolome-wide association studies. BMC Bioinformatics 13, 120 (2012).
    • (2012) BMC Bioinformatics , vol.13 , pp. 120
    • Petersen, A.K.1
  • 30
    • 84872655217 scopus 로고    scopus 로고
    • Mining the unknown: A systems approach to metabolite identification combining genetic and metabolic information
    • the press
    • Krumiesk, J. et al. Mining the unknown: A systems approach to metabolite identification combining genetic and metabolic information. PLoS Genet. (in the press).
    • PLoS Genet
    • Krumiesk, J.1
  • 31
    • 79955579254 scopus 로고    scopus 로고
    • Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption
    • Cornelis, M. C. et al. Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption. PLoS Genet. 7, e1002033 (2011).
    • (2011) PLoS Genet , vol.7
    • Cornelis, M.C.1
  • 32
    • 84855883877 scopus 로고    scopus 로고
    • Recent and potential developments of biofluid analyses in metabolomics
    • Zhang, A., Sun, H., Wang, P., Han, Y. & Wang, X. Recent and potential developments of biofluid analyses in metabolomics. J. Proteomics 75, 1079-1088 (2011).
    • (2011) J. Proteomics , vol.75 , pp. 1079-1088
    • Zhang, A.1    Sun, H.2    Wang, P.3    Han, Y.4    Wang, X.5
  • 33
    • 79960130240 scopus 로고    scopus 로고
    • Differences between human plasma and serum metabolite profiles
    • Yu, Z. et al. Differences between human plasma and serum metabolite profiles. PLoS ONE 6, e21230 (2011).
    • (2011) PLoS ONE , vol.6
    • Yu, Z.1
  • 34
    • 84857684406 scopus 로고    scopus 로고
    • Detailed metabolic and genetic characterization reveals new associations for 30 known lipid loci
    • Tukiainen, T. et al. Detailed metabolic and genetic characterization reveals new associations for 30 known lipid loci. Hum. Mol. Genet. 21, 1444-1455 (2012).
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 1444-1455
    • Tukiainen, T.1
  • 35
    • 78650665228 scopus 로고    scopus 로고
    • Metabonomic, transcriptomic, and genomic variation of a population cohort
    • Inouye, M. et al. Metabonomic, transcriptomic, and genomic variation of a population cohort. Mol. Syst. Biol. 6, 441 (2010).
    • (2010) Mol. Syst. Biol. , vol.6 , pp. 441
    • Inouye, M.1
  • 36
    • 77951766263 scopus 로고    scopus 로고
    • New loci associated with kidney function and chronic kidney disease
    • Kottgen, A. et al. New loci associated with kidney function and chronic kidney disease. Nature Genet. 42, 376-384 (2010).
    • (2010) Nature Genet , vol.42 , pp. 376-384
    • Kottgen, A.1
  • 37
    • 79959400390 scopus 로고    scopus 로고
    • Identification of a potential biomarker for FABP4 inhibition: The power of lipidomics in preclinical drug testing
    • Suhre, K. et al. Identification of a potential biomarker for FABP4 inhibition: the power of lipidomics in preclinical drug testing. J. Biomol. Screen 16, 467-475 (2011).
    • (2011) J. Biomol. Screen , vol.16 , pp. 467-475
    • Suhre, K.1
  • 38
    • 75749086085 scopus 로고    scopus 로고
    • New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
    • Dupuis, J. et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nature Genet. 42, 105-116 (2010).
    • (2010) Nature Genet , vol.42 , pp. 105-116
    • Dupuis, J.1
  • 39
    • 67649851008 scopus 로고    scopus 로고
    • Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
    • Sanna, S. et al. Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. Hum. Mol. Genet. 18, 2711-2718 (2009).
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 2711-2718
    • Sanna, S.1
  • 40
    • 67649838598 scopus 로고    scopus 로고
    • Genome-wide association meta-analysis for total serum bilirubin levels
    • Johnson, A. D. et al. Genome-wide association meta-analysis for total serum bilirubin levels. Hum. Mol. Genet. 18, 2700-2710 (2009).
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 2700-2710
    • Johnson, A.D.1
  • 41
    • 67651056502 scopus 로고    scopus 로고
    • Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations
    • Kolz, M. et al. Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet. 5, e1000504 (2009).
    • (2009) PLoS Genet , vol.5
    • Kolz, M.1
  • 42
    • 79955580001 scopus 로고    scopus 로고
    • Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms
    • Zhai, G. et al. Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms. PLoS Genet. 7, e1002025 (2011).
    • (2011) PLoS Genet , vol.7
    • Zhai, G.1
  • 43
    • 77955505564 scopus 로고    scopus 로고
    • Biological, clinical and population relevance of 95 loci for blood lipids
    • Teslovich, T. M. et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466, 707-713 (2010).
    • (2010) Nature , vol.466 , pp. 707-713
    • Teslovich, T.M.1
  • 44
    • 38649132270 scopus 로고    scopus 로고
    • Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
    • Kathiresan, S. et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nature Genet. 40, 189-197 (2008).
    • (2008) Nature Genet , vol.40 , pp. 189-197
    • Kathiresan, S.1
  • 45
    • 38649125868 scopus 로고    scopus 로고
    • Newly identified loci that influence lipid concentrations and risk of coronary artery disease
    • Willer, C. J. et al. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nature Genet. 40, 161-169 (2008).
    • (2008) Nature Genet , vol.40 , pp. 161-169
    • Willer, C.J.1
  • 46
    • 58149163149 scopus 로고    scopus 로고
    • Common variants at 30 loci contribute to polygenic dyslipidemia
    • Kathiresan, S. et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nature Genet. 41, 56-65 (2009).
    • (2009) Nature Genet , vol.41 , pp. 56-65
    • Kathiresan, S.1
  • 48
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    • The Wellcome Trust Case Control Conortium
    • The Wellcome Trust Case Control Conortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 661-678 (2007).
    • (2007) Nature , vol.447 , pp. 661-678
  • 49
    • 78649489009 scopus 로고    scopus 로고
    • Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
    • Franke, A. et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nature Genet. 42, 1118-1125 (2010).
    • (2010) Nature Genet , vol.42 , pp. 1118-1125
    • Franke, A.1
  • 50
    • 79957585975 scopus 로고    scopus 로고
    • Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians
    • Kato, N. et al. Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. Nature Genet. 43, 531-538 (2011).
    • (2011) Nature Genet , vol.43 , pp. 531-538
    • Kato, N.1
  • 51
    • 84947899485 scopus 로고    scopus 로고
    • A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
    • Rothman, N. et al. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nature Genet. 42, 978-984 (2010).
    • (2010) Nature Genet. , vol.42 , pp. 978-984
    • Rothman, N.1
  • 52
    • 77951768942 scopus 로고    scopus 로고
    • Genetic loci influencing kidney function and chronic kidney disease
    • Chambers, J. C. et al. Genetic loci influencing kidney function and chronic kidney disease. Nature Genet. 42, 373-375 (2010).
    • (2010) Nature Genet , vol.42 , pp. 373-375
    • Chambers, J.C.1
  • 53
    • 38749149611 scopus 로고    scopus 로고
    • Genome-wide association study identifies genes for biomarkers of cardiovascular disease: Serum urate and dyslipidemia
    • Wallace, C. et al. Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Am. J. Hum. Genet. 82, 139-149 (2008).
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 139-149
    • Wallace, C.1
  • 54
    • 37349008492 scopus 로고    scopus 로고
    • The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts
    • Li, S. et al. The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. PLoS Genet. 3, e194 (2007).
    • (2007) PLoS Genet , vol.3
    • Li, S.1
  • 55
    • 41449093735 scopus 로고    scopus 로고
    • SLC2A9 influences uric acid concentrations with pronounced sex-specific effects
    • Doring, A. et al. SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nature Genet. 40, 430-436 (2008).
    • (2008) Nature Genet , vol.40 , pp. 430-436
    • Doring, A.1
  • 56
    • 58049204427 scopus 로고    scopus 로고
    • A multivariate test of association
    • Ferreira, M. A. & Purcell, S. M. A multivariate test of association. Bioinformatics 25, 132-133 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 132-133
    • Ferreira, M.A.1    Purcell, S.M.2
  • 57
    • 84867609628 scopus 로고    scopus 로고
    • PSEA: Phenotype set enrichment analysis\a new method for analysis of multiple phenotypes
    • Ried, J. S. et al. PSEA: phenotype set enrichment analysis\a new method for analysis of multiple phenotypes. Genet. Epidemiol. 36, 244-252 (2012).
    • (2012) Genet. Epidemiol. , vol.36 , pp. 244-252
    • Ried, J.S.1
  • 58
    • 67651205715 scopus 로고    scopus 로고
    • Identifying relationships among genomic disease regions: Predicting genes at pathogenic SNP associations and rare deletions
    • Raychaudhuri, S. et al. Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet. 5, e1000534 (2009).
    • (2009) PLoS Genet , vol.5
    • Raychaudhuri, S.1
  • 59
    • 79251567361 scopus 로고    scopus 로고
    • Gaussian graphical modeling reconstructs pathway reactions from high-throughput metabolomics data
    • Krumsiek, J., Suhre, K., Illig, T., Adamski, J. & Theis, F. J. Gaussian graphical modeling reconstructs pathway reactions from high-throughput metabolomics data. BMC Syst. Biol. 5, 21 (2011).
    • (2011) BMC Syst. Biol. , vol.5 , pp. 21
    • Krumsiek, J.1    Suhre, K.2    Illig, T.3    Adamski, J.4    Theis, F.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.