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Volumn 11, Issue 9, 2015, Pages

Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality

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EID: 84943579561     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1005487     Document Type: Article
Times cited : (74)

References (91)
  • 1
    • 57149114936 scopus 로고    scopus 로고
    • Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum
    • Gieger C, Geistlinger L, Altmaier E, Hrabě de Angelis M, Kronenberg F, Meitinger T, et al. Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. PLoS Genetics. 2008 Nov;4(11):e1000282. doi: 10.1371/journal.pgen.1000282 19043545
    • (2008) PLoS Genetics , vol.4 , Issue.11 , pp. e1000282
    • Gieger, C.1    Geistlinger, L.2    Altmaier, E.3    Hrabě de Angelis, M.4    Kronenberg, F.5    Meitinger, T.6
  • 2
    • 73449117605 scopus 로고    scopus 로고
    • Genetic determinants of circulating sphingolipid concentrations in European populations
    • Hicks AA, Pramstaller PP, Johansson A, Vitart V, Rudan I, Ugocsai P, et al. Genetic determinants of circulating sphingolipid concentrations in European populations. PLoS Genetics. 2009 Oct;5(10):e1000672. doi: 10.1371/journal.pgen.1000672 19798445
    • (2009) PLoS Genetics , vol.5 , Issue.10 , pp. e1000672
    • Hicks, A.A.1    Pramstaller, P.P.2    Johansson, A.3    Vitart, V.4    Rudan, I.5    Ugocsai, P.6
  • 3
    • 59249096217 scopus 로고    scopus 로고
    • Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study
    • Tanaka T, Shen J, Abecasis GR, Kisialiou A, Ordovas JM, Guralnik JM, et al. Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS Genetics. 2009 Jan;5(1):e1000338. doi: 10.1371/journal.pgen.1000338 19148276
    • (2009) PLoS Genetics , vol.5 , Issue.1 , pp. e1000338
    • Tanaka, T.1    Shen, J.2    Abecasis, G.R.3    Kisialiou, A.4    Ordovas, J.M.5    Guralnik, J.M.6
  • 4
    • 75749134031 scopus 로고    scopus 로고
    • A genome-wide perspective of genetic variation in human metabolism
    • Illig T, Gieger C, Zhai G, Römisch-Margl W, Wang-Sattler R, Prehn C, et al. A genome-wide perspective of genetic variation in human metabolism. Nature Genetics. 2010 Feb;42(2):137–41. doi: 10.1038/ng.507 20037589
    • (2010) Nature Genetics , vol.42 , Issue.2 , pp. 137-141
    • Illig, T.1    Gieger, C.2    Zhai, G.3    Römisch-Margl, W.4    Wang-Sattler, R.5    Prehn, C.6
  • 5
    • 80053456207 scopus 로고    scopus 로고
    • A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection
    • Nicholson G, Rantalainen M, Li JV, Maher AD, Malmodin D, Ahmadi KR, et al. A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. PLoS Genetics. 2011 Sep;7(9):e1002270. doi: 10.1371/journal.pgen.1002270 21931564
    • (2011) PLoS Genetics , vol.7 , Issue.9 , pp. e1002270
    • Nicholson, G.1    Rantalainen, M.2    Li, J.V.3    Maher, A.D.4    Malmodin, D.5    Ahmadi, K.R.6
  • 6
    • 80052398214 scopus 로고    scopus 로고
    • Human metabolic individuality in biomedical and pharmaceutical research
    • Suhre K, Shin SY, Petersen AK, Mohney RP, Meredith D, Wägele B, et al. Human metabolic individuality in biomedical and pharmaceutical research. Nature. 2011 Sep 1;477(7362):54–60. doi: 10.1038/nature10354 21886157
    • (2011) Nature , vol.477 , Issue.7362 , pp. 54-60
    • Suhre, K.1    Shin, S.Y.2    Petersen, A.K.3    Mohney, R.P.4    Meredith, D.5    Wägele, B.6
  • 7
    • 84857648463 scopus 로고    scopus 로고
    • Genome-wide association study identifies multiple loci influencing human serum metabolite levels
    • Kettunen J, Tukiainen T, Sarin AP, Ortega-Alonso A, Tikkanen E, Lyytikäinen LP, et al. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. Nature Genetics. 2012 Mar;44(3):269–76. doi: 10.1038/ng.1073 22286219
    • (2012) Nature Genetics , vol.44 , Issue.3 , pp. 269-276
    • Kettunen, J.1    Tukiainen, T.2    Sarin, A.P.3    Ortega-Alonso, A.4    Tikkanen, E.5    Lyytikäinen, L.P.6
  • 8
    • 84868112190 scopus 로고    scopus 로고
    • Mining the unknown: a systems approach to metabolite identification combining genetic and metabolic information
    • Krumsiek J, Suhre K, Evans AM, Mitchell MW, Mohney RP, Milburn MV, et al. Mining the unknown: a systems approach to metabolite identification combining genetic and metabolic information. PLoS Genetics. 2012;8(10):e1003005. doi: 10.1371/journal.pgen.1003005 23093944
    • (2012) PLoS Genetics , vol.8 , Issue.10 , pp. e1003005
    • Krumsiek, J.1    Suhre, K.2    Evans, A.M.3    Mitchell, M.W.4    Mohney, R.P.5    Milburn, M.V.6
  • 9
    • 84867744660 scopus 로고    scopus 로고
    • Genetic variation in metabolic phenotypes: study designs and applications
    • Suhre K, Gieger C, Genetic variation in metabolic phenotypes: study designs and applications. Nature Reviews Genetics. 2012 Nov;13(11):759–69. doi: 10.1038/nrg3314 23032255
    • (2012) Nature Reviews Genetics , vol.13 , Issue.11 , pp. 759-769
    • Suhre, K.1    Gieger, C.2
  • 11
    • 84872403982 scopus 로고    scopus 로고
    • Current status on genome-metabolome-wide associations: an opportunity in nutrition research
    • Montoliu I, Genick U, Ledda M, Collino S, Martin FP, le Coutre J, et al. Current status on genome-metabolome-wide associations: an opportunity in nutrition research. Genes & Nutrition. 2013 Jan;8(1):19–27.
    • (2013) Genes & Nutrition , vol.8 , Issue.1 , pp. 19-27
    • Montoliu, I.1    Genick, U.2    Ledda, M.3    Collino, S.4    Martin, F.P.5    le Coutre, J.6
  • 12
    • 84901742293 scopus 로고    scopus 로고
    • Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links
    • Rueedi R, Ledda M, Nicholls AW, Salek RM, Marques-Vidal P, Morya E, et al. Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. PLoS Genetics. 2014 Feb;10(2):e1004132. doi: 10.1371/journal.pgen.1004132 24586186
    • (2014) PLoS Genetics , vol.10 , Issue.2 , pp. e1004132
    • Rueedi, R.1    Ledda, M.2    Nicholls, A.W.3    Salek, R.M.4    Marques-Vidal, P.5    Morya, E.6
  • 14
    • 84878256943 scopus 로고    scopus 로고
    • Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes
    • Xie W, Wood AR, Lyssenko V, Weedon MN, Knowles JW, Alkayyali S, et al. Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. Diabetes. 2013 Jun;62(6):2141–50. doi: 10.2337/db12-0876 23378610
    • (2013) Diabetes , vol.62 , Issue.6 , pp. 2141-2150
    • Xie, W.1    Wood, A.R.2    Lyssenko, V.3    Weedon, M.N.4    Knowles, J.W.5    Alkayyali, S.6
  • 15
    • 84884250513 scopus 로고    scopus 로고
    • Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease
    • Sabater-Lleal M, Huang J, Chasman D, Naitza S, Dehghan A, Johnson AD, et al. Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. Circulation. 2013 Sep 17;128(12):1310–24. doi: 10.1161/CIRCULATIONAHA.113.002251 23969696
    • (2013) Circulation , vol.128 , Issue.12 , pp. 1310-1324
    • Sabater-Lleal, M.1    Huang, J.2    Chasman, D.3    Naitza, S.4    Dehghan, A.5    Johnson, A.D.6
  • 16
    • 84873949476 scopus 로고    scopus 로고
    • A genome-wide assessment of variability in human serum metabolism
    • Hong MG, Karlsson R, Magnusson PK, Lewis MR, Isaacs W, Zheng LS, et al. A genome-wide assessment of variability in human serum metabolism. Human Mutation. 2013 Mar;34(3):515–24. doi: 10.1002/humu.22267 23281178
    • (2013) Human Mutation , vol.34 , Issue.3 , pp. 515-524
    • Hong, M.G.1    Karlsson, R.2    Magnusson, P.K.3    Lewis, M.R.4    Isaacs, W.5    Zheng, L.S.6
  • 17
    • 84887099827 scopus 로고    scopus 로고
    • Discovery and refinement of loci associated with lipid levels
    • Global Lipids Genetics CWiller CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, et al. Discovery and refinement of loci associated with lipid levels. Nature Genetics. 2013 Nov;45(11):1274–83. doi: 10.1038/ng.2797 24097068
    • (2013) Nature Genetics , vol.45 , Issue.11 , pp. 1274-1283
    • Willer, C.J.1    Schmidt, E.M.2    Sengupta, S.3    Peloso, G.M.4    Gustafsson, S.5
  • 18
    • 84881530978 scopus 로고    scopus 로고
    • Genome-wide association study identifies loci affecting blood copper, selenium and zinc
    • Evans DM, Zhu G, Dy V, Heath AC, Madden PA, Kemp JP, et al. Genome-wide association study identifies loci affecting blood copper, selenium and zinc. Human Molecular Genetics. 2013 Oct 1;22(19):3998–4006. doi: 10.1093/hmg/ddt239 23720494
    • (2013) Human Molecular Genetics , vol.22 , Issue.19 , pp. 3998-4006
    • Evans, D.M.1    Zhu, G.2    Dy, V.3    Heath, A.C.4    Madden, P.A.5    Kemp, J.P.6
  • 20
    • 84894572651 scopus 로고    scopus 로고
    • Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality
    • Seppälä I, Kleber ME, Lyytikäinen LP, Hernesniemi JA, Mäkelä KM, Oksala N, et al. Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. European Heart Journal. 2014 Feb;35(8):524–31. doi: 10.1093/eurheartj/eht447 24159190
    • (2014) European Heart Journal , vol.35 , Issue.8 , pp. 524-531
    • Seppälä, I.1    Kleber, M.E.2    Lyytikäinen, L.P.3    Hernesniemi, J.A.4    Mäkelä, K.M.5    Oksala, N.6
  • 22
    • 84873714655 scopus 로고    scopus 로고
    • Identification and MS-assisted interpretation of genetically influenced NMR signals in human plasma
    • Raffler J, Rämisch-Margl W, Petersen AK, Pagel P, Blöchl F, Hengstenberg C, et al. Identification and MS-assisted interpretation of genetically influenced NMR signals in human plasma. Genome Medicine. 2013 Feb 15;5(2):13. doi: 10.1186/gm417 23414815
    • (2013) Genome Medicine , vol.5 , Issue.2 , pp. 13
    • Raffler, J.1    Rämisch-Margl, W.2    Petersen, A.K.3    Pagel, P.4    Blöchl, F.5    Hengstenberg, C.6
  • 23
    • 84891790401 scopus 로고    scopus 로고
    • The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
    • Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, et al. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research. 2014 Jan;42(Database issue):D1001–6. doi: 10.1093/nar/gkt1229 24316577
    • (2014) Nucleic Acids Research , vol.42 , pp. D1001-6
    • Welter, D.1    MacArthur, J.2    Morales, J.3    Burdett, T.4    Hall, P.5    Junkins, H.6
  • 24
    • 84924402386 scopus 로고    scopus 로고
    • Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses
    • Demirkan A, Henneman P, Verhoeven A, Dharuri H, Amin N, van Klinken JB, et al. Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses. PLoS Genetics. 2015 Jan;11(1):e1004835. doi: 10.1371/journal.pgen.1004835 25569235
    • (2015) PLoS Genetics , vol.11 , Issue.1 , pp. e1004835
    • Demirkan, A.1    Henneman, P.2    Verhoeven, A.3    Dharuri, H.4    Amin, N.5    van Klinken, J.B.6
  • 25
    • 84897399605 scopus 로고    scopus 로고
    • Genetic Determinants Influencing Human Serum Metabolome among African Americans
    • Yu B, Zheng Y, Alexander D, Morrison AC, Coresh J, Boerwinkle E, Genetic Determinants Influencing Human Serum Metabolome among African Americans. PLoS Genetics. 2014 Mar;10(3):e1004212. doi: 10.1371/journal.pgen.1004212 24625756
    • (2014) . PLoS Genetics , vol.10 , Issue.3 , pp. e1004212
    • Yu, B.1    Zheng, Y.2    Alexander, D.3    Morrison, A.C.4    Coresh, J.5    Boerwinkle, E.6
  • 26
  • 27
    • 84880872926 scopus 로고    scopus 로고
    • Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate
    • Tin A, Colantuoni E, Boerwinkle E, Kottgen A, Franceschini N, Astor BC, et al. Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. Journal of Human Genetics. 2013 Jul;58(7):461–6. doi: 10.1038/jhg.2013.23 23535967
    • (2013) Journal of Human Genetics , vol.58 , Issue.7 , pp. 461-466
    • Tin, A.1    Colantuoni, E.2    Boerwinkle, E.3    Kottgen, A.4    Franceschini, N.5    Astor, B.C.6
  • 28
    • 84879867981 scopus 로고    scopus 로고
    • A genome-wide association study of the human metabolome in a community-based cohort
    • Rhee EP, Ho JE, Chen MH, Shen D, Cheng S, Larson MG, et al. A genome-wide association study of the human metabolome in a community-based cohort. Cell Metabolism. 2013 Jul 2;18(1):130–43. doi: 10.1016/j.cmet.2013.06.013 23823483
    • (2013) Cell Metabolism , vol.18 , Issue.1 , pp. 130-143
    • Rhee, E.P.1    Ho, J.E.2    Chen, M.H.3    Shen, D.4    Cheng, S.5    Larson, M.G.6
  • 29
    • 84892392892 scopus 로고    scopus 로고
    • Genome-wide association study identifies 3 genomic loci significantly associated with serum levels of homoarginine: the AtheroRemo Consortium
    • Kleber ME, Seppälä I, Pilz S, Hoffmann MM, Tomaschitz A, Oksala N, et al. Genome-wide association study identifies 3 genomic loci significantly associated with serum levels of homoarginine: the AtheroRemo Consortium. Circulation Cardiovascular Genetics. 2013 Oct;6(5):505–13. doi: 10.1161/CIRCGENETICS.113.000108 24047826
    • (2013) Circulation Cardiovascular Genetics , vol.6 , Issue.5 , pp. 505-513
    • Kleber, M.E.1    Seppälä, I.2    Pilz, S.3    Hoffmann, M.M.4    Tomaschitz, A.5    Oksala, N.6
  • 30
    • 77952469251 scopus 로고    scopus 로고
    • Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults
    • Lange LA, Croteau-Chonka DC, Marvelle AF, Qin L, Gaulton KJ, Kuzawa CW, et al. Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. Human Molecular Genetics. 2010 May 15;19(10):2050–8. doi: 10.1093/hmg/ddq062 20154341
    • (2010) Human Molecular Genetics , vol.19 , Issue.10 , pp. 2050-2058
    • Lange, L.A.1    Croteau-Chonka, D.C.2    Marvelle, A.F.3    Qin, L.4    Gaulton, K.J.5    Kuzawa, C.W.6
  • 31
    • 10744225397 scopus 로고    scopus 로고
    • Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function
    • Summar ML, Gainer JV, Pretorius M, Malave H, Harris S, Hall LD, et al. Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function. Hypertension. 2004 Feb;43(2):186–91. 14718356
    • (2004) Hypertension , vol.43 , Issue.2 , pp. 186-191
    • Summar, M.L.1    Gainer, J.V.2    Pretorius, M.3    Malave, H.4    Harris, S.5    Hall, L.D.6
  • 32
    • 84896510786 scopus 로고    scopus 로고
    • Two Novel Susceptibility SNPs for Ischemic Stroke Using Exome Sequencing in Chinese Han Population
    • Zhang Y, Tong Y, Zhang Y, Ding H, Zhang H, Geng Y, et al. Two Novel Susceptibility SNPs for Ischemic Stroke Using Exome Sequencing in Chinese Han Population. Molecular Neurobiology. 2014 Apr;49(2):852–62. doi: 10.1007/s12035-013-8561-0 24122314
    • (2014) Molecular Neurobiology , vol.49 , Issue.2 , pp. 852-862
    • Zhang, Y.1    Tong, Y.2    Zhang, Y.3    Ding, H.4    Zhang, H.5    Geng, Y.6
  • 33
    • 84872740718 scopus 로고    scopus 로고
    • Structure and function of human xylulokinase, an enzyme with important roles in carbohydrate metabolism
    • Bunker RD, Bulloch EM, Dickson JM, Loomes KM, Baker EN, Structure and function of human xylulokinase, an enzyme with important roles in carbohydrate metabolism. The Journal of Biological Chemistry. 2013 Jan 18;288(3):1643–52. doi: 10.1074/jbc.M112.427997 23179721
    • (2013) The Journal of Biological Chemistry , vol.288 , Issue.3 , pp. 1643-1652
    • Bunker, R.D.1    Bulloch, E.M.2    Dickson, J.M.3    Loomes, K.M.4    Baker, E.N.5
  • 35
    • 57449088245 scopus 로고    scopus 로고
    • Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters
    • Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, et al. Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. The Journal of Clinical Investigation. 2008 Dec;118(12):3881–92. doi: 10.1172/JCI36625 19033659
    • (2008) The Journal of Clinical Investigation , vol.118 , Issue.12 , pp. 3881-3892
    • Bröer, S.1    Bailey, C.G.2    Kowalczuk, S.3    Ng, C.4    Vanslambrouck, J.M.5    Rodgers, H.6
  • 36
    • 84896124147 scopus 로고    scopus 로고
    • Alanine-glyoxylate aminotransferase 2 (AGXT2) polymorphisms have considerable impact on methylarginine and beta-aminoisobutyrate metabolism in healthy volunteers
    • Kittel A, Müller F, König J, Mieth M, Sticht H, Zolk O, et al. Alanine-glyoxylate aminotransferase 2 (AGXT2) polymorphisms have considerable impact on methylarginine and beta-aminoisobutyrate metabolism in healthy volunteers. PloS ONE. 2014;9(2):e88544. doi: 10.1371/journal.pone.0088544 24586340
    • (2014) PloS ONE , vol.9 , Issue.2 , pp. e88544
    • Kittel, A.1    Müller, F.2    König, J.3    Mieth, M.4    Sticht, H.5    Zolk, O.6
  • 37
    • 77955505564 scopus 로고    scopus 로고
    • Biological, clinical and population relevance of 95 loci for blood lipids
    • Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010 Aug 5;466(7307):707–13. doi: 10.1038/nature09270 20686565
    • (2010) Nature , vol.466 , Issue.7307 , pp. 707-713
    • Teslovich, T.M.1    Musunuru, K.2    Smith, A.V.3    Edmondson, A.C.4    Stylianou, I.M.5    Koseki, M.6
  • 38
    • 84947899485 scopus 로고    scopus 로고
    • A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
    • Rothman N, Garcia-Closas M, Chatterjee N, Malats N, Wu X, Figueroa JD, et al. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nature Genetics. 2010 Nov;42(11):978–84. doi: 10.1038/ng.687 20972438
    • (2010) Nature Genetics , vol.42 , Issue.11 , pp. 978-984
    • Rothman, N.1    Garcia-Closas, M.2    Chatterjee, N.3    Malats, N.4    Wu, X.5    Figueroa, J.D.6
  • 40
    • 0037201542 scopus 로고    scopus 로고
    • Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis
    • Hein DW, Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis. Mutation Research. 2002 Sep 30;506–507:65–77. 12351146
    • (2002) Mutation Research , vol.506-507 , pp. 65-77
    • Hein, D.W.1
  • 41
    • 38449121822 scopus 로고    scopus 로고
    • Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia
    • Magalon H, Patin E, Austerlitz F, Hegay T, Aldashev A, Quintana-Murci L, et al. Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia. European Journal of Human Genetics: EJHG. 2008 Feb;16(2):243–51. 18043717
    • (2008) European Journal of Human Genetics: EJHG , vol.16 , Issue.2 , pp. 243-251
    • Magalon, H.1    Patin, E.2    Austerlitz, F.3    Hegay, T.4    Aldashev, A.5    Quintana-Murci, L.6
  • 45
    • 0033730443 scopus 로고    scopus 로고
    • Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria
    • Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, et al. Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Molecular Genetics and Metabolism. 2000 Nov;71(3):506–10. 11073718
    • (2000) Molecular Genetics and Metabolism , vol.71 , Issue.3 , pp. 506-510
    • Tomoeda, K.1    Awata, H.2    Matsuura, T.3    Matsuda, I.4    Ploechl, E.5    Milovac, T.6
  • 46
    • 0035929654 scopus 로고    scopus 로고
    • Molecular identification and characterization of two medium-chain acyl-CoA synthetases, MACS1 and the Sa gene product
    • Fujino T, Takei YA, Sone H, Ioka RX, Kamataki A, Magoori K, et al. Molecular identification and characterization of two medium-chain acyl-CoA synthetases, MACS1 and the Sa gene product. The Journal of Biological Chemistry. 2001 Sep 21;276(38):35961–6. 11470804
    • (2001) The Journal of Biological Chemistry , vol.276 , Issue.38 , pp. 35961-35966
    • Fujino, T.1    Takei, Y.A.2    Sone, H.3    Ioka, R.X.4    Kamataki, A.5    Magoori, K.6
  • 47
    • 84894288992 scopus 로고    scopus 로고
    • Genetics of rheumatoid arthritis contributes to biology and drug discovery
    • Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature. 2014 Feb 20;506(7488):376–81. doi: 10.1038/nature12873 24390342
    • (2014) Nature , vol.506 , Issue.7488 , pp. 376-381
    • Okada, Y.1    Wu, D.2    Trynka, G.3    Raj, T.4    Terao, C.5    Ikari, K.6
  • 48
    • 77952421760 scopus 로고    scopus 로고
    • Conserved regulatory motifs at phenylethanolamine N-methyltransferase (PNMT) are disrupted by common functional genetic variation: an integrated computational/experimental approach
    • Rodríguez-Flores JL, Zhang K, Kang SW, Wen G, Ghosh S, Friese RS, et al. Conserved regulatory motifs at phenylethanolamine N-methyltransferase (PNMT) are disrupted by common functional genetic variation: an integrated computational/experimental approach. Mammalian Genome. 2010 Apr;21(3–4):195–204. doi: 10.1007/s00335-010-9253-y 20204374
    • (2010) Mammalian Genome , vol.21 , Issue.3-4 , pp. 195-204
    • Rodríguez-Flores, J.L.1    Zhang, K.2    Kang, S.W.3    Wen, G.4    Ghosh, S.5    Friese, R.S.6
  • 50
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • Genomes Project CAbecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012 Nov 1;491(7422):56–65. doi: 10.1038/nature11632 23128226
    • (2012) Nature , vol.491 , Issue.7422 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3    DePristo, M.A.4    Durbin, R.M.5
  • 51
    • 84927747554 scopus 로고    scopus 로고
    • SNiPA: an interactive, genetic variant-centered annotation browser
    • Arnold M, Raffler J, Pfeufer A, Suhre K, Kastenmüller G, SNiPA: an interactive, genetic variant-centered annotation browser. Bioinformatics. 2015 Apr 15;31(8):1334–6. doi: 10.1093/bioinformatics/btu779 25431330
    • (2015) Bioinformatics , vol.31 , Issue.8 , pp. 1334-1336
    • Arnold, M.1    Raffler, J.2    Pfeufer, A.3    Suhre, K.4    Kastenmüller, G.5
  • 53
    • 84861810217 scopus 로고    scopus 로고
    • On the hypothesis-free testing of metabolite ratios in genome-wide and metabolome-wide association studies
    • Petersen AK, Krumsiek J, Wägele B, Theis FJ, Wichmann HE, Gieger C, et al. On the hypothesis-free testing of metabolite ratios in genome-wide and metabolome-wide association studies. BMC Bioinformatics. 2012;13:120. doi: 10.1186/1471-2105-13-120 22672667
    • (2012) BMC Bioinformatics , vol.13 , pp. 120
    • Petersen, A.K.1    Krumsiek, J.2    Wägele, B.3    Theis, F.J.4    Wichmann, H.E.5    Gieger, C.6
  • 55
    • 84891809093 scopus 로고    scopus 로고
    • ClinVar: public archive of relationships among sequence variation and human phenotype
    • Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Research. 2014 Jan;42(Database issue):D980–5. doi: 10.1093/nar/gkt1113 24234437
    • (2014) Nucleic Acids Research , vol.42 , pp. D980-5
    • Landrum, M.J.1    Lee, J.M.2    Riley, G.R.3    Jang, W.4    Rubinstein, W.S.5    Church, D.M.6
  • 56
    • 84891837451 scopus 로고    scopus 로고
    • The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
    • Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN, The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Human Genetics. 2014 Jan;133(1):1–9. 24077912
    • (2014) Human Genetics , vol.133 , Issue.1 , pp. 1-9
    • Stenson, P.D.1    Mort, M.2    Ball, E.V.3    Shaw, K.4    Phillips, A.5    Cooper, D.N.6
  • 58
    • 84920448829 scopus 로고    scopus 로고
    • NMR spectroscopy for metabolomics and metabolic profiling
    • Larive CK, Barding GA, Jr.Dinges MM, NMR spectroscopy for metabolomics and metabolic profiling. Analytical Chemistry. 2015 Jan 6;87(1):133–46. doi: 10.1021/ac504075g 25375201
    • (2015) Analytical Chemistry , vol.87 , Issue.1 , pp. 133-146
    • Larive, C.K.1    Barding, G.A.2    Dinges, M.M.3
  • 59
    • 84857775738 scopus 로고    scopus 로고
    • Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine
    • Veiga-da-Cunha M, Hadi F, Balligand T, Stroobant V, Van Schaftingen E, Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine. The Journal of Biological Chemistry. 2012 Mar 2;287(10):7246–55. doi: 10.1074/jbc.M111.323485 22241472
    • (2012) The Journal of Biological Chemistry , vol.287 , Issue.10 , pp. 7246-7255
    • Veiga-da-Cunha, M.1    Hadi, F.2    Balligand, T.3    Stroobant, V.4    Van Schaftingen, E.5
  • 60
    • 45449091369 scopus 로고    scopus 로고
    • Shared gene expression alterations in schizophrenia and bipolar disorder
    • Shao L, Vawter MP, Shared gene expression alterations in schizophrenia and bipolar disorder. Biological Psychiatry. 2008 Jul 15;64(2):89–97. doi: 10.1016/j.biopsych.2007.11.010 18191109
    • (2008) Biological Psychiatry , vol.64 , Issue.2 , pp. 89-97
    • Shao, L.1    Vawter, M.P.2
  • 61
    • 0037562746 scopus 로고    scopus 로고
    • The uptake, distribution, metabolism, and excretion of methyl tertiary-butyl ether inhaled alone and in combination with gasoline vapor
    • Benson JM, Tibbetts BM, Barr EB, The uptake, distribution, metabolism, and excretion of methyl tertiary-butyl ether inhaled alone and in combination with gasoline vapor. Journal of Toxicology and Environmental Health Part A. 2003 Jun 13;66(11):1029–52. 12775515
    • (2003) Journal of Toxicology and Environmental Health Part A , vol.66 , Issue.11 , pp. 1029-1052
    • Benson, J.M.1    Tibbetts, B.M.2    Barr, E.B.3
  • 62
    • 0032845960 scopus 로고    scopus 로고
    • Biotransformation and kinetics of excretion of methyl-tert-butyl ether in rats and humans
    • Amberg A, Rosner E, Dekant W, Biotransformation and kinetics of excretion of methyl-tert-butyl ether in rats and humans. Toxicological Sciences. 1999 Sep;51(1):1–8. 10496672
    • (1999) Toxicological Sciences , vol.51 , Issue.1 , pp. 1-8
    • Amberg, A.1    Rosner, E.2    Dekant, W.3
  • 63
    • 34247536327 scopus 로고    scopus 로고
    • Ethyl tertiary-butyl ether: a toxicological review
    • McGregor D, Ethyl tertiary-butyl ether: a toxicological review. Critical Reviews in Toxicology. 2007 May;37(4):287–312. 17453936
    • (2007) Critical Reviews in Toxicology , vol.37 , Issue.4 , pp. 287-312
    • McGregor, D.1
  • 65
    • 84902685788 scopus 로고    scopus 로고
    • Metabolomics approach reveals effects of antihypertensives and lipid-lowering drugs on the human metabolism
    • Altmaier E, Fobo G, Heier M, Thorand B, Meisinger C, Römisch-Margl W, et al. Metabolomics approach reveals effects of antihypertensives and lipid-lowering drugs on the human metabolism. European Journal of Epidemiology. 2014 May;29(5):325–36. doi: 10.1007/s10654-014-9910-7 24816436
    • (2014) European Journal of Epidemiology , vol.29 , Issue.5 , pp. 325-336
    • Altmaier, E.1    Fobo, G.2    Heier, M.3    Thorand, B.4    Meisinger, C.5    Römisch-Margl, W.6
  • 66
    • 84899473489 scopus 로고    scopus 로고
    • Lysine 2-hydroxyisobutyrylation is a widely distributed active histone mark
    • Dai L, Peng C, Montellier E, Lu Z, Chen Y, Ishii H, et al. Lysine 2-hydroxyisobutyrylation is a widely distributed active histone mark. Nature Chemical Biology. 2014 May;10(5):365–70. doi: 10.1038/nchembio.1497 24681537
    • (2014) Nature Chemical Biology , vol.10 , Issue.5 , pp. 365-370
    • Dai, L.1    Peng, C.2    Montellier, E.3    Lu, Z.4    Chen, Y.5    Ishii, H.6
  • 67
    • 34250352746 scopus 로고    scopus 로고
    • Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex
    • Lee JH, Tate CM, You JS, Skalnik DG, Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex. The Journal of Biological Chemistry. 2007 May 4;282(18):13419–28. 17355966
    • (2007) The Journal of Biological Chemistry , vol.282 , Issue.18 , pp. 13419-13428
    • Lee, J.H.1    Tate, C.M.2    You, J.S.3    Skalnik, D.G.4
  • 70
    • 0008806776 scopus 로고    scopus 로고
    • Glyoxylate synthesis, and its modulation and influence on oxalate synthesis
    • Holmes RP, Assimos DG, Glyoxylate synthesis, and its modulation and influence on oxalate synthesis. The Journal of Urology. 1998 Nov;160(5):1617–24. 9783918
    • (1998) The Journal of Urology , vol.160 , Issue.5 , pp. 1617-1624
    • Holmes, R.P.1    Assimos, D.G.2
  • 71
    • 0025013875 scopus 로고
    • The relation of clinical catastrophes, endogenous oxalate production, and urolithiasis
    • Conyers RA, Bais R, Rofe AM, The relation of clinical catastrophes, endogenous oxalate production, and urolithiasis. Clinical Chemistry. 1990 Oct;36(10):1717–30. 2208646
    • (1990) Clinical Chemistry , vol.36 , Issue.10 , pp. 1717-1730
    • Conyers, R.A.1    Bais, R.2    Rofe, A.M.3
  • 73
    • 2642671955 scopus 로고    scopus 로고
    • A study on the route of 1-methylurate formation in theophylline metabolism
    • Bayar C, Ozer I, A study on the route of 1-methylurate formation in theophylline metabolism. European Journal of Drug Metabolism and Pharmacokinetics. 1997 Oct-Dec;22(4):415–9. 9512943
    • (1997) European Journal of Drug Metabolism and Pharmacokinetics , vol.22 , Issue.4 , pp. 415-419
    • Bayar, C.1    Ozer, I.2
  • 74
    • 22844440427 scopus 로고    scopus 로고
    • Identification of hundreds of conserved and nonconserved human microRNAs
    • Bentwich I, Avniel A, Karov Y, Aharonov R, Gilad S, Barad O, et al. Identification of hundreds of conserved and nonconserved human microRNAs. Nature Genetics. 2005 Jul;37(7):766–70. 15965474
    • (2005) Nature Genetics , vol.37 , Issue.7 , pp. 766-770
    • Bentwich, I.1    Avniel, A.2    Karov, Y.3    Aharonov, R.4    Gilad, S.5    Barad, O.6
  • 75
    • 34250877841 scopus 로고    scopus 로고
    • A mammalian microRNA expression atlas based on small RNA library sequencing
    • Landgraf P, Rusu M, Sheridan R, Sewer A, Iovino N, Aravin A, et al. A mammalian microRNA expression atlas based on small RNA library sequencing. Cell. 2007 Jun 29;129(7):1401–14. 17604727
    • (2007) Cell , vol.129 , Issue.7 , pp. 1401-1414
    • Landgraf, P.1    Rusu, M.2    Sheridan, R.3    Sewer, A.4    Iovino, N.5    Aravin, A.6
  • 77
    • 77954106335 scopus 로고    scopus 로고
    • Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis
    • Pekkala S, Martinez AI, Barcelona B, Yefimenko I, Finckh U, Rubio V, et al. Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis. Human Mutation. 2010 Jul;31(7):801–8. doi: 10.1002/humu.21272 20578160
    • (2010) Human Mutation , vol.31 , Issue.7 , pp. 801-808
    • Pekkala, S.1    Martinez, A.I.2    Barcelona, B.3    Yefimenko, I.4    Finckh, U.5    Rubio, V.6
  • 78
    • 0015937406 scopus 로고
    • The glycine cleavage system: composition, reaction mechanism, and physiological significance
    • Kikuchi G, The glycine cleavage system: composition, reaction mechanism, and physiological significance. Molecular and Cellular Biochemistry. 1973 Jun 27;1(2):169–87. 4585091
    • (1973) Molecular and Cellular Biochemistry , vol.1 , Issue.2 , pp. 169-187
    • Kikuchi, G.1
  • 80
    • 0037138392 scopus 로고    scopus 로고
    • New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families
    • Roll P, Massacrier A, Pereira S, Robaglia-Schlupp A, Cau P, Szepetowski P, New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families. Gene. 2002 Feb 20;285(1–2):141–8. 12039040
    • (2002) Gene , vol.285 , Issue.1-2 , pp. 141-148
    • Roll, P.1    Massacrier, A.2    Pereira, S.3    Robaglia-Schlupp, A.4    Cau, P.5    Szepetowski, P.6
  • 84
    • 0034884907 scopus 로고    scopus 로고
    • Study of Health In Pomerania (SHIP): a health examination survey in an east German region: objectives and design
    • John U, Greiner B, Hensel E, Lüdemann J, Piek M, Sauer S, et al. Study of Health In Pomerania (SHIP): a health examination survey in an east German region: objectives and design. Sozial- und Präventivmedizin. 2001;46(3):186–94. 11565448
    • (2001) Sozial- und Präventivmedizin , vol.46 , Issue.3 , pp. 186-194
    • John, U.1    Greiner, B.2    Hensel, E.3    Lüdemann, J.4    Piek, M.5    Sauer, S.6
  • 86
    • 23844467739 scopus 로고    scopus 로고
    • KORA—a research platform for population based health research
    • Holle R, Happich M, Löwel H, Wichmann HE, Group MKS, KORA—a research platform for population based health research. Gesundheitswesen. 2005 Aug;67 Suppl 1:S19–25. 16032513
    • (2005) Gesundheitswesen , vol.67 , Issue.Suppl 1 , pp. S19-25
    • Holle, R.1    Happich, M.2    Löwel, H.3    Wichmann, H.E.4    Group, M.K.S.5
  • 87
    • 84856478855 scopus 로고    scopus 로고
    • A linear complexity phasing method for thousands of genomes
    • Delaneau O, Marchini J, Zagury JF, A linear complexity phasing method for thousands of genomes. Nature Methods. 2012 Feb;9(2):179–81.
    • (2012) Nature Methods , vol.9 , Issue.2 , pp. 179-181
    • Delaneau, O.1    Marchini, J.2    Zagury, J.F.3
  • 88
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • Howie BN, Donnelly P, Marchini J, A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genetics. 2009 Jun;5(6):e1000529. doi: 10.1371/journal.pgen.1000529 19543373
    • (2009) PLoS Genetics , vol.5 , Issue.6 , pp. e1000529
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3


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