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Volumn 11, Issue 9, 2015, Pages

Integration of Genome-Wide SNP Data and Gene-Expression Profiles Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids and Acylcarnitines in Whole Blood

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYISOVALERYLCARNITINE; ACYLCARNITINE; AMINO ACID DERIVATIVE; ARGININE; ASPARTIC ACID; CARNITINE DERIVATIVE; JUNCTIONAL ADHESION MOLECULE C; MESSENGER RNA; ORGANIC CATION TRANSPORTER 6; PROPIONYLCARNITINE; STEAROYLCARNITINE; UNCLASSIFIED DRUG; AMINO ACID; CARNITINE;

EID: 84943548355     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1005510     Document Type: Article
Times cited : (39)

References (75)
  • 2
    • 84860439210 scopus 로고    scopus 로고
    • Interplay between lipids and branched-chain amino acids in development of insulin resistance
    • Newgard CB, (2012) Interplay between lipids and branched-chain amino acids in development of insulin resistance. Cell metabolism 15 (5): 606–614. doi: 10.1016/j.cmet.2012.01.024 22560213
    • (2012) Cell metabolism , vol.15 , Issue.5 , pp. 606-614
    • Newgard, C.B.1
  • 3
    • 63449111894 scopus 로고    scopus 로고
    • A branched-chain amino acid-related metabolic signature that differentiates obese and lean humans and contributes to insulin resistance
    • Newgard CB, An J, Bain JR, Muehlbauer MJ, Stevens RD, et al. (2009) A branched-chain amino acid-related metabolic signature that differentiates obese and lean humans and contributes to insulin resistance. Cell metabolism 9 (4): 311–326. doi: 10.1016/j.cmet.2009.02.002 19356713
    • (2009) Cell metabolism , vol.9 , Issue.4 , pp. 311-326
    • Newgard, C.B.1    An, J.2    Bain, J.R.3    Muehlbauer, M.J.4    Stevens, R.D.5
  • 4
    • 66749094133 scopus 로고    scopus 로고
    • Plasma acylcarnitine profiles suggest incomplete long-chain fatty acid beta-oxidation and altered tricarboxylic acid cycle activity in type 2 diabetic African-American women
    • Adams SH, Hoppel CL, Lok KH, Zhao L, Wong SW, et al. (2009) Plasma acylcarnitine profiles suggest incomplete long-chain fatty acid beta-oxidation and altered tricarboxylic acid cycle activity in type 2 diabetic African-American women. The Journal of nutrition 139 (6): 1073–1081. doi: 10.3945/jn.108.103754 19369366
    • (2009) The Journal of nutrition , vol.139 , Issue.6 , pp. 1073-1081
    • Adams, S.H.1    Hoppel, C.L.2    Lok, K.H.3    Zhao, L.4    Wong, S.W.5
  • 5
    • 77956094483 scopus 로고    scopus 로고
    • Increased levels of plasma acylcarnitines in obesity and type 2 diabetes and identification of a marker of glucolipotoxicity
    • Mihalik SJ, Goodpaster BH, Kelley DE, Chace DH, Vockley J, et al. (2010) Increased levels of plasma acylcarnitines in obesity and type 2 diabetes and identification of a marker of glucolipotoxicity. Obesity (Silver Spring, Md.) 18 (9): 1695–1700.
    • (2010) Obesity (Silver Spring, Md.) , vol.18 , Issue.9 , pp. 1695-1700
    • Mihalik, S.J.1    Goodpaster, B.H.2    Kelley, D.E.3    Chace, D.H.4    Vockley, J.5
  • 6
    • 79251570550 scopus 로고    scopus 로고
    • Cruciferous vegetable supplementation in a controlled diet study alters the serum peptidome in a GSTM1-genotype dependent manner
    • Brauer HA, Libby TE, Mitchell BL, Li L, Chen C, et al. (2011) Cruciferous vegetable supplementation in a controlled diet study alters the serum peptidome in a GSTM1-genotype dependent manner. Nutrition journal 10: 11. doi: 10.1186/1475-2891-10-11 21272319
    • (2011) Nutrition journal , vol.10 , pp. 11
    • Brauer, H.A.1    Libby, T.E.2    Mitchell, B.L.3    Li, L.4    Chen, C.5
  • 7
    • 64349124452 scopus 로고    scopus 로고
    • High heritability of metabolomic profiles in families burdened with premature cardiovascular disease
    • Shah SH, Hauser ER, Bain JR, Muehlbauer MJ, Haynes C, et al. (2009) High heritability of metabolomic profiles in families burdened with premature cardiovascular disease. Molecular systems biology 5: 258. doi: 10.1038/msb.2009.11 19357637
    • (2009) Molecular systems biology , vol.5 , pp. 258
    • Shah, S.H.1    Hauser, E.R.2    Bain, J.R.3    Muehlbauer, M.J.4    Haynes, C.5
  • 8
    • 84897399605 scopus 로고    scopus 로고
    • Genetic determinants influencing human serum metabolome among African Americans
    • Yu B, Zheng Y, Alexander D, Morrison AC, Coresh J, et al. (2014) Genetic determinants influencing human serum metabolome among African Americans. PLoS Genet 10 (3): e1004212. doi: 10.1371/journal.pgen.1004212 24625756
    • (2014) PLoS Genet , vol.10 , Issue.3 , pp. e1004212
    • Yu, B.1    Zheng, Y.2    Alexander, D.3    Morrison, A.C.4    Coresh, J.5
  • 9
    • 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, et al. (2013) Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. Diabetes 62 (6): 2141–2150. 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
  • 10
    • 84857684406 scopus 로고    scopus 로고
    • Detailed metabolic and genetic characterization reveals new associations for 30 known lipid loci
    • Tukiainen T, Kettunen J, Kangas AJ, Lyytikäinen L, Soininen P, et al. (2012) Detailed metabolic and genetic characterization reveals new associations for 30 known lipid loci. Human molecular genetics 21 (6): 1444–1455. doi: 10.1093/hmg/ddr581 22156771
    • (2012) Human molecular genetics , vol.21 , Issue.6 , pp. 1444-1455
    • Tukiainen, T.1    Kettunen, J.2    Kangas, A.J.3    Lyytikäinen, L.4    Soininen, P.5
  • 11
    • 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, et al. (2009) Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS genetics 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
  • 12
    • 79957604338 scopus 로고    scopus 로고
    • A genome-wide association study of metabolic traits in human urine
    • Suhre K, Wallaschofski H, Raffler J, Friedrich N, Haring R, et al. (2011) A genome-wide association study of metabolic traits in human urine. Nature genetics 43 (6): 565–569. doi: 10.1038/ng.837 21572414
    • (2011) Nature genetics , vol.43 , Issue.6 , pp. 565-569
    • Suhre, K.1    Wallaschofski, H.2    Raffler, J.3    Friedrich, N.4    Haring, R.5
  • 13
    • 80052398214 scopus 로고    scopus 로고
    • Human metabolic individuality in biomedical and pharmaceutical research
    • Suhre K, Shin SY, Petersen AK, Mohney RP, Meredith D, et al. (2011) Human metabolic individuality in biomedical and pharmaceutical research. Nature 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
  • 14
    • 84901686870 scopus 로고    scopus 로고
    • An atlas of genetic influences on human blood metabolites
    • Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, et al. (2014) An atlas of genetic influences on human blood metabolites. Nat Genet 46 (6): 543–550. doi: 10.1038/ng.2982 24816252
    • (2014) Nat Genet , vol.46 , Issue.6 , pp. 543-550
    • Shin, S.Y.1    Fauman, E.B.2    Petersen, A.K.3    Krumsiek, J.4    Santos, R.5
  • 15
    • 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, et al. (2013) A genome-wide association study of the human metabolome in a community-based cohort. Cell Metab 18 (1): 130–143. doi: 10.1016/j.cmet.2013.06.013 23823483
    • (2013) Cell Metab , 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
  • 16
    • 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, et al. (2011) A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. PLoS genetics 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
  • 17
    • 84893658006 scopus 로고    scopus 로고
    • Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid
    • Luykx JJ, Bakker SC, Lentjes E, Neeleman M, Strengman E, et al. (2014) Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. Molecular psychiatry 19 (2): 228–234. doi: 10.1038/mp.2012.183 23319000
    • (2014) Molecular psychiatry , vol.19 , Issue.2 , pp. 228-234
    • Luykx, J.J.1    Bakker, S.C.2    Lentjes, E.3    Neeleman, M.4    Strengman, E.5
  • 18
    • 84857648463 scopus 로고    scopus 로고
    • Genome-wide association study identifies multiple loci influencing human serum metabolite levels
    • Kettunen J, Tukiainen T, Sarin A, Ortega-Alonso A, Tikkanen E, et al. (2012) Genome-wide association study identifies multiple loci influencing human serum metabolite levels. Nature genetics 44 (3): 269–276. doi: 10.1038/ng.1073 22286219
    • (2012) Nature genetics , vol.44 , Issue.3 , pp. 269-276
    • Kettunen, J.1    Tukiainen, T.2    Sarin, A.3    Ortega-Alonso, A.4    Tikkanen, E.5
  • 19
    • 84866156922 scopus 로고    scopus 로고
    • Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis
    • Inouye M, Ripatti S, Kettunen J, Lyytikäinen L, Oksala N, et al. (2012) Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. PLoS genetics 8 (8): e1002907. doi: 10.1371/journal.pgen.1002907 22916037
    • (2012) PLoS genetics , vol.8 , Issue.8 , pp. e1002907
    • Inouye, M.1    Ripatti, S.2    Kettunen, J.3    Lyytikäinen, L.4    Oksala, N.5
  • 20
    • 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, et al. (2010) A genome-wide perspective of genetic variation in human metabolism. Nature genetics 42 (2): 137–141. 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
  • 21
    • 84873949476 scopus 로고    scopus 로고
    • A genome-wide assessment of variability in human serum metabolism
    • Hong M, Karlsson R, Magnusson Patrik K E, Lewis MR, Isaacs W, et al. (2013) A genome-wide assessment of variability in human serum metabolism. Human mutation 34 (3): 515–524. doi: 10.1002/humu.22267 23281178
    • (2013) Human mutation , vol.34 , Issue.3 , pp. 515-524
    • Hong, M.1    Karlsson, R.2    Magnusson, P.K.E.3    Lewis, M.R.4    Isaacs, W.5
  • 22
    • 73449117605 scopus 로고    scopus 로고
    • Genetic determinants of circulating sphingolipid concentrations in European populations
    • Hicks AA, Pramstaller PP, Johansson A, Vitart V, Rudan I, et al. (2009) Genetic determinants of circulating sphingolipid concentrations in European populations. PLoS genetics 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
  • 23
    • 84889858142 scopus 로고    scopus 로고
    • Automated workflow-based exploitation of pathway databases provides new insights into genetic associations of metabolite profiles
    • Dharuri H, Henneman P, Demirkan A, van Klinken Jan Bert, Mook-Kanamori DO, et al. (2013) Automated workflow-based exploitation of pathway databases provides new insights into genetic associations of metabolite profiles. BMC Genomics 14: 865. doi: 10.1186/1471-2164-14-865 24320595
    • (2013) BMC Genomics , vol.14 , pp. 865
    • Dharuri, H.1    Henneman, P.2    Demirkan, A.3    van Klinken, J.B.4    Mook-Kanamori, D.O.5
  • 24
    • 84859190557 scopus 로고    scopus 로고
    • Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations
    • Demirkan A, van Duijn Cornelia M, Ugocsai P, Isaacs A, Pramstaller PP, et al. (2012) Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. PLoS genetics 8 (2): e1002490. doi: 10.1371/journal.pgen.1002490 22359512
    • (2012) PLoS genetics , vol.8 , Issue.2 , pp. e1002490
    • Demirkan, A.1    van Duijn, C.M.2    Ugocsai, P.3    Isaacs, A.4    Pramstaller, P.P.5
  • 26
    • 83055161438 scopus 로고    scopus 로고
    • New gene functions in megakaryopoiesis and platelet formation
    • Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, et al. (2011) New gene functions in megakaryopoiesis and platelet formation. Nature 480 (7376): 201–208. doi: 10.1038/nature10659 22139419
    • (2011) Nature , vol.480 , Issue.7376 , pp. 201-208
    • Gieger, C.1    Radhakrishnan, A.2    Cvejic, A.3    Tang, W.4    Porcu, E.5
  • 27
    • 84871464519 scopus 로고    scopus 로고
    • Seventy-five genetic loci influencing the human red blood cell
    • van der Harst Pim, Zhang W, Mateo Leach I, Rendon A, Verweij N, et al. (2012) Seventy-five genetic loci influencing the human red blood cell. Nature 492 (7429): 369–375. doi: 10.1038/nature11677 23222517
    • (2012) Nature , vol.492 , Issue.7429 , pp. 369-375
    • van der Harst, P.1    Zhang, W.2    Mateo Leach, I.3    Rendon, A.4    Verweij, N.5
  • 28
    • 77649184039 scopus 로고    scopus 로고
    • Genome-wide association study of hematological and biochemical traits in a Japanese population
    • Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, et al. (2010) Genome-wide association study of hematological and biochemical traits in a Japanese population. Nature genetics 42 (3): 210–215. doi: 10.1038/ng.531 20139978
    • (2010) Nature genetics , vol.42 , Issue.3 , pp. 210-215
    • Kamatani, Y.1    Matsuda, K.2    Okada, Y.3    Kubo, M.4    Hosono, N.5
  • 29
    • 77649222029 scopus 로고    scopus 로고
    • Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study
    • Danik JS, Paré G, Chasman DI, Zee Robert Y L, Kwiatkowski DJ, et al. (2009) Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. Circulation. Cardiovascular genetics 2 (2): 134–141. doi: 10.1161/CIRCGENETICS.108.825273 20031577
    • (2009) Circulation. Cardiovascular genetics , vol.2 , Issue.2 , pp. 134-141
    • Danik, J.S.1    Paré, G.2    Chasman, D.I.3    Zee, R.Y.L.4    Kwiatkowski, D.J.5
  • 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, et al. (2010) Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. Hum Mol Genet 19 (10): 2050–2058. doi: 10.1093/hmg/ddq062 20154341
    • (2010) Hum Mol Genet , 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
  • 31
    • 84887099827 scopus 로고    scopus 로고
    • Discovery and refinement of loci associated with lipid levels
    • Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, et al. (2013) Discovery and refinement of loci associated with lipid levels. Nat Genet 45 (11): 1274–1283. doi: 10.1038/ng.2797 24097068
    • (2013) Nat Genet , 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
  • 32
    • 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, Johnson T, Sanna S, Teumer A, Vitart V, et al. (2009) Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS genetics 5 (6): e1000504. doi: 10.1371/journal.pgen.1000504 19503597
    • (2009) PLoS genetics , vol.5 , Issue.6 , pp. e1000504
    • Kolz, M.1    Johnson, T.2    Sanna, S.3    Teumer, A.4    Vitart, V.5
  • 33
    • 77951768942 scopus 로고    scopus 로고
    • Genetic loci influencing kidney function and chronic kidney disease
    • Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, et al. (2010) Genetic loci influencing kidney function and chronic kidney disease. Nat Genet 42 (5): 373–375. doi: 10.1038/ng.566 20383145
    • (2010) Nat Genet , vol.42 , Issue.5 , pp. 373-375
    • Chambers, J.C.1    Zhang, W.2    Lord, G.M.3    van der Harst, P.4    Lawlor, D.A.5
  • 34
    • 77951766263 scopus 로고    scopus 로고
    • New loci associated with kidney function and chronic kidney disease
    • Kottgen A, Pattaro C, Boger CA, Fuchsberger C, Olden M, et al. (2010) New loci associated with kidney function and chronic kidney disease. Nat Genet 42 (5): 376–384. doi: 10.1038/ng.568 20383146
    • (2010) Nat Genet , vol.42 , Issue.5 , pp. 376-384
    • Kottgen, A.1    Pattaro, C.2    Boger, C.A.3    Fuchsberger, C.4    Olden, M.5
  • 35
    • 84873545064 scopus 로고    scopus 로고
    • Prognostic implications of genetic variants in advanced non-small cell lung cancer. a genome-wide association study
    • Lee Y, Yoon KA, Joo J, Lee D, Bae K, et al. (2013) Prognostic implications of genetic variants in advanced non-small cell lung cancer. a genome-wide association study. Carcinogenesis 34 (2): 307–313. doi: 10.1093/carcin/bgs356 23144319
    • (2013) Carcinogenesis , vol.34 , Issue.2 , pp. 307-313
    • Lee, Y.1    Yoon, K.A.2    Joo, J.3    Lee, D.4    Bae, K.5
  • 36
    • 84856087055 scopus 로고    scopus 로고
    • Glycine decarboxylase activity drives non-small cell lung cancer tumor-initiating cells and tumorigenesis
    • Zhang WC, Shyh-Chang N, Yang H, Rai A, Umashankar S, et al. (2012) Glycine decarboxylase activity drives non-small cell lung cancer tumor-initiating cells and tumorigenesis. Cell 148 (1–2): 259–272. doi: 10.1016/j.cell.2011.11.050 22225612
    • (2012) Cell , vol.148 , Issue.1-2 , pp. 259-272
    • Zhang, W.C.1    Shyh-Chang, N.2    Yang, H.3    Rai, A.4    Umashankar, S.5
  • 37
    • 84861420588 scopus 로고    scopus 로고
    • Metabolite profiling identifies a key role for glycine in rapid cancer cell proliferation
    • Jain M, Nilsson R, Sharma S, Madhusudhan N, Kitami T, et al. (2012) Metabolite profiling identifies a key role for glycine in rapid cancer cell proliferation. Science (New York, N.Y.) 336 (6084): 1040–1044.
    • (2012) Science (New York, N.Y.) , vol.336 , Issue.6084 , pp. 1040-1044
    • Jain, M.1    Nilsson, R.2    Sharma, S.3    Madhusudhan, N.4    Kitami, T.5
  • 38
    • 79959841853 scopus 로고    scopus 로고
    • Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease
    • Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, et al. (2011) Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS genetics 7 (6): e1002141. doi: 10.1371/journal.pgen.1002141 21738487
    • (2011) PLoS genetics , vol.7 , Issue.6 , pp. e1002141
    • Do, C.B.1    Tung, J.Y.2    Dorfman, E.3    Kiefer, A.K.4    Drabant, E.M.5
  • 40
    • 84877128327 scopus 로고    scopus 로고
    • Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia
    • Khor S, Miyagawa T, Toyoda H, Yamasaki M, Kawamura Y, et al. (2013) Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia. PeerJ 1: e66. doi: 10.7717/peerj.66 23646285
    • (2013) PeerJ , vol.1 , pp. e66
    • Khor, S.1    Miyagawa, T.2    Toyoda, H.3    Yamasaki, M.4    Kawamura, Y.5
  • 41
    • 84865685465 scopus 로고    scopus 로고
    • Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
    • Ludwig KU, Mangold E, Herms S, Nowak S, Reutter H, et al. (2012) Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nature genetics 44 (9): 968–971. doi: 10.1038/ng.2360 22863734
    • (2012) Nature genetics , vol.44 , Issue.9 , pp. 968-971
    • Ludwig, K.U.1    Mangold, E.2    Herms, S.3    Nowak, S.4    Reutter, H.5
  • 42
    • 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, et al. (2014) Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. PLoS genetics 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
  • 43
    • 84899694686 scopus 로고    scopus 로고
    • Mapping the genetic architecture of gene regulation in whole blood
    • Schramm K, Marzi C, Schurmann C, Carstensen M, Reinmaa E, et al. (2014) Mapping the genetic architecture of gene regulation in whole blood. PLoS One 9 (4): e93844. doi: 10.1371/journal.pone.0093844 24740359
    • (2014) PLoS One , vol.9 , Issue.4 , pp. e93844
    • Schramm, K.1    Marzi, C.2    Schurmann, C.3    Carstensen, M.4    Reinmaa, E.5
  • 44
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nature methods 7 (4): 248–249. doi: 10.1038/nmeth0410-248 20354512
    • (2010) Nature methods , vol.7 , Issue.4 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3    Ramensky, V.E.4    Gerasimova, A.5
  • 45
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • Ng PC, Henikoff S, (2001) Predicting deleterious amino acid substitutions. Genome research 11 (5): 863–874. 11337480
    • (2001) Genome research , vol.11 , Issue.5 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 46
    • 41149143719 scopus 로고    scopus 로고
    • PPP1R16A, the membrane subunit of protein phosphatase 1beta, signals nuclear translocation of the nuclear receptor constitutive active/androstane receptor
    • Sueyoshi T, Moore R, Sugatani J, Matsumura Y, Negishi M, (2008) PPP1R16A, the membrane subunit of protein phosphatase 1beta, signals nuclear translocation of the nuclear receptor constitutive active/androstane receptor. Molecular pharmacology 73 (4): 1113–1121. doi: 10.1124/mol.107.042960 18202305
    • (2008) Molecular pharmacology , vol.73 , Issue.4 , pp. 1113-1121
    • Sueyoshi, T.1    Moore, R.2    Sugatani, J.3    Matsumura, Y.4    Negishi, M.5
  • 47
    • 84885018609 scopus 로고    scopus 로고
    • Systematic identification of trans eQTLs as putative drivers of known disease associations
    • Westra H, Peters MJ, Esko T, Yaghootkar H, Schurmann C, et al. (2013) Systematic identification of trans eQTLs as putative drivers of known disease associations. Nature genetics 45 (10): 1238–1243. doi: 10.1038/ng.2756 24013639
    • (2013) Nature genetics , vol.45 , Issue.10 , pp. 1238-1243
    • Westra, H.1    Peters, M.J.2    Esko, T.3    Yaghootkar, H.4    Schurmann, C.5
  • 49
    • 84925089678 scopus 로고    scopus 로고
    • The role of regulatory variation in complex traits and disease
    • Albert FW, Kruglyak L, (2015) The role of regulatory variation in complex traits and disease. Nature reviews. Genetics.
    • (2015) Nature reviews. Genetics
    • Albert, F.W.1    Kruglyak, L.2
  • 50
    • 84865822182 scopus 로고    scopus 로고
    • Systematic localization of common disease-associated variation in regulatory DNA
    • Maurano MT, Humbert R, Rynes E, Thurman RE, Haugen E, et al. (2012) Systematic localization of common disease-associated variation in regulatory DNA. Science (New York, N.Y.) 337 (6099): 1190–1195.
    • (2012) Science (New York, N.Y.) , vol.337 , Issue.6099 , pp. 1190-1195
    • Maurano, M.T.1    Humbert, R.2    Rynes, E.3    Thurman, R.E.4    Haugen, E.5
  • 51
    • 84055216956 scopus 로고    scopus 로고
    • Rationale and design of the Leipzig (LIFE) Heart Study. phenotyping and cardiovascular characteristics of patients with coronary artery disease
    • Beutner F, Teupser D, Gielen S, Holdt LM, Scholz M, et al. Rationale and design of the Leipzig (LIFE) Heart Study. phenotyping and cardiovascular characteristics of patients with coronary artery disease. PLoS One 6 (12): e29070. doi: 10.1371/journal.pone.0029070 22216169
    • PLoS One , vol.6 , Issue.12 , pp. e29070
    • Beutner, F.1    Teupser, D.2    Gielen, S.3    Holdt, L.M.4    Scholz, M.5
  • 52
    • 79960656505 scopus 로고    scopus 로고
    • Population-genetic comparison of the Sorbian isolate population in Germany with the German KORA population using genome-wide SNP arrays
    • Gross A, Tonjes A, Kovacs P, Veeramah KR, Ahnert P, et al. (2011) Population-genetic comparison of the Sorbian isolate population in Germany with the German KORA population using genome-wide SNP arrays. BMC Genet 12: 67. doi: 10.1186/1471-2156-12-67 21798003
    • (2011) BMC Genet , vol.12 , pp. 67
    • Gross, A.1    Tonjes, A.2    Kovacs, P.3    Veeramah, K.R.4    Ahnert, P.5
  • 53
    • 70449334180 scopus 로고    scopus 로고
    • Genetic variation in GPR133 is associated with height. genome wide association study in the self-contained population of Sorbs
    • Tonjes A, Koriath M, Schleinitz D, Dietrich K, Bottcher Y, et al. (2009) Genetic variation in GPR133 is associated with height. genome wide association study in the self-contained population of Sorbs. Hum Mol Genet 18 (23): 4662–4668. doi: 10.1093/hmg/ddp423 19729412
    • (2009) Hum Mol Genet , vol.18 , Issue.23 , pp. 4662-4668
    • Tonjes, A.1    Koriath, M.2    Schleinitz, D.3    Dietrich, K.4    Bottcher, Y.5
  • 54
    • 80052028100 scopus 로고    scopus 로고
    • Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity
    • Veeramah KR, Tonjes A, Kovacs P, Gross A, Wegmann D, et al. (2011) Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity. Eur J Hum Genet 19 (9): 995–1001. doi: 10.1038/ejhg.2011.65 21559053
    • (2011) Eur J Hum Genet , vol.19 , Issue.9 , pp. 995-1001
    • Veeramah, K.R.1    Tonjes, A.2    Kovacs, P.3    Gross, A.4    Wegmann, D.5
  • 55
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • Hirschhorn JN, Daly MJ, (2005) Genome-wide association studies for common diseases and complex traits. Nature reviews. Genetics 6 (2): 95–108. 15716906
    • (2005) Nature reviews. Genetics , vol.6 , Issue.2 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 56
    • 0036367077 scopus 로고    scopus 로고
    • Validation of the phenylalanine/tyrosine ratio determined by tandem mass spectrometry. sensitive newborn screening for phenylketonuria
    • Ceglarek U, Muller P, Stach B, Buhrdel P, Thiery J, et al. (2002) Validation of the phenylalanine/tyrosine ratio determined by tandem mass spectrometry. sensitive newborn screening for phenylketonuria. Clin Chem Lab Med 40 (7): 693–697. 12241016
    • (2002) Clin Chem Lab Med , vol.40 , Issue.7 , pp. 693-697
    • Ceglarek, U.1    Muller, P.2    Stach, B.3    Buhrdel, P.4    Thiery, J.5
  • 57
    • 60249102576 scopus 로고    scopus 로고
    • Challenges and developments in tandem mass spectrometry based clinical metabolomics
    • Ceglarek U, Leichtle A, Brugel M, Kortz L, Brauer R, et al. (2009) Challenges and developments in tandem mass spectrometry based clinical metabolomics. Mol Cell Endocrinol 301 (1–2): 266–271. doi: 10.1016/j.mce.2008.10.013 19007853
    • (2009) Mol Cell Endocrinol , vol.301 , Issue.1-2 , pp. 266-271
    • Ceglarek, U.1    Leichtle, A.2    Brugel, M.3    Kortz, L.4    Brauer, R.5
  • 58
    • 80051669357 scopus 로고    scopus 로고
    • Preanalytical standardization of amino acid and acylcarnitine metabolite profiling in human blood using tandem mass spectrometry
    • Brauer R, Leichtle AB, Fiedler GM, Thiery J, Ceglarek U, (2011) Preanalytical standardization of amino acid and acylcarnitine metabolite profiling in human blood using tandem mass spectrometry. Metabolomics 7 (3): 344–352.
    • (2011) Metabolomics , vol.7 , Issue.3 , pp. 344-352
    • Brauer, R.1    Leichtle, A.B.2    Fiedler, G.M.3    Thiery, J.4    Ceglarek, U.5
  • 59
    • 0017084183 scopus 로고
    • The effect of normalization of plasma amino acids on hepatic encephalopathy in man
    • Fischer JE, Rosen HM, Ebeid AM, James JH, Keane JM, et al. (1976) The effect of normalization of plasma amino acids on hepatic encephalopathy in man. Surgery 80 (1): 77–91. 818729
    • (1976) Surgery , vol.80 , Issue.1 , pp. 77-91
    • Fischer, J.E.1    Rosen, H.M.2    Ebeid, A.M.3    James, J.H.4    Keane, J.M.5
  • 60
    • 84880799429 scopus 로고    scopus 로고
    • Alu elements in ANRIL non-coding RNA at chromosome 9p21 modulate atherogenic cell functions through trans-regulation of gene networks
    • Holdt LM, Hoffmann S, Sass K, Langenberger D, Scholz M, et al. (2013) Alu elements in ANRIL non-coding RNA at chromosome 9p21 modulate atherogenic cell functions through trans-regulation of gene networks. PLoS Genet 9 (7): e1003588. doi: 10.1371/journal.pgen.1003588 23861667
    • (2013) PLoS Genet , vol.9 , Issue.7 , pp. e1003588
    • Holdt, L.M.1    Hoffmann, S.2    Sass, K.3    Langenberger, D.4    Scholz, M.5
  • 61
    • 0036196697 scopus 로고    scopus 로고
    • An estimator for pairwise relatedness using molecular markers
    • Wang J, (2002) An estimator for pairwise relatedness using molecular markers. Genetics 160 (3): 1203–1215. 11901134
    • (2002) Genetics , vol.160 , Issue.3 , pp. 1203-1215
    • Wang, J.1
  • 62
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38 (8): 904–909. 16862161
    • (2006) Nat Genet , vol.38 , Issue.8 , pp. 904-909
    • Price, A.L.1    Patterson, N.J.2    Plenge, R.M.3    Weinblatt, M.E.4    Shadick, N.A.5
  • 63
    • 84919594987 scopus 로고    scopus 로고
    • Genome Wide Meta-analysis Highlights the Role of Genetic Variation in RARRES2 in the Regulation of Circulating Serum Chemerin
    • Tönjes A, Scholz M, Breitfeld J, Marzi C, Grallert H, et al. (2014) Genome Wide Meta-analysis Highlights the Role of Genetic Variation in RARRES2 in the Regulation of Circulating Serum Chemerin. PLoS genetics 10 (12): e1004854. doi: 10.1371/journal.pgen.1004854 25521368
    • (2014) PLoS genetics , vol.10 , Issue.12 , pp. e1004854
    • Tönjes, A.1    Scholz, M.2    Breitfeld, J.3    Marzi, C.4    Grallert, H.5
  • 64
    • 44249112333 scopus 로고    scopus 로고
    • A genomic background based method for association analysis in related individuals
    • Amin N, van Duijn Cornelia M, Aulchenko YS, (2007) A genomic background based method for association analysis in related individuals. PLoS One 2 (12): e1274. 18060068
    • (2007) PLoS One , vol.2 , Issue.12 , pp. e1274
    • Amin, N.1    van Duijn, C.M.2    Aulchenko, Y.S.3
  • 65
    • 35048838105 scopus 로고    scopus 로고
    • Genomewide rapid association using mixed model and regression: a fast and simple method for genomewide pedigree-based quantitative trait loci association analysis
    • Aulchenko YS, Koning de D, Haley C, (2007) Genomewide rapid association using mixed model and regression: a fast and simple method for genomewide pedigree-based quantitative trait loci association analysis. Genetics 177 (1): 577–585. 17660554
    • (2007) Genetics , vol.177 , Issue.1 , pp. 577-585
    • Aulchenko, Y.S.1    Koning de, D.2    Haley, C.3
  • 66
    • 77649166974 scopus 로고    scopus 로고
    • ANRIL expression is associated with atherosclerosis risk at chromosome 9p21
    • Holdt LM, Beutner F, Scholz M, Gielen S, Gabel G, et al. (2010) ANRIL expression is associated with atherosclerosis risk at chromosome 9p21. Arterioscler Thromb Vasc Biol 30 (3): 620–627. doi: 10.1161/ATVBAHA.109.196832 20056914
    • (2010) Arterioscler Thromb Vasc Biol , vol.30 , Issue.3 , pp. 620-627
    • Holdt, L.M.1    Beutner, F.2    Scholz, M.3    Gielen, S.4    Gabel, G.5
  • 67
    • 28744458859 scopus 로고    scopus 로고
    • Bioconductor. open software development for computational biology and bioinformatics
    • Gentleman RC, Carey VJ, Bates DM, Bolstad B, Dettling M, et al. (2004) Bioconductor. open software development for computational biology and bioinformatics. Genome Biol 5 (10): R80. 15461798
    • (2004) Genome Biol , vol.5 , Issue.10 , pp. R80
    • Gentleman, R.C.1    Carey, V.J.2    Bates, D.M.3    Bolstad, B.4    Dettling, M.5
  • 68
    • 77952851186 scopus 로고    scopus 로고
    • Comparison of normalization methods for Illumina BeadChip HumanHT-12 v3
    • Schmid R, Baum P, Ittrich C, Fundel-Clemens K, Huber W, et al. (2010) Comparison of normalization methods for Illumina BeadChip HumanHT-12 v3. BMC Genomics 11: 349. doi: 10.1186/1471-2164-11-349 20525181
    • (2010) BMC Genomics , vol.11 , pp. 349
    • Schmid, R.1    Baum, P.2    Ittrich, C.3    Fundel-Clemens, K.4    Huber, W.5
  • 69
    • 33845432928 scopus 로고    scopus 로고
    • Adjusting batch effects in microarray expression data using empirical Bayes methods
    • Johnson WE, Li C, Rabinovic A, (2007) Adjusting batch effects in microarray expression data using empirical Bayes methods. Biostatistics 8 (1): 118–127. 16632515
    • (2007) Biostatistics , vol.8 , Issue.1 , pp. 118-127
    • Johnson, W.E.1    Li, C.2    Rabinovic, A.3
  • 70
    • 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
    • Fehrmann RS, Jansen RC, Veldink JH, Westra HJ, Arends D, et al. (2011) 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 7 (8): e1002197. doi: 10.1371/journal.pgen.1002197 21829388
    • (2011) PLoS Genet , vol.7 , Issue.8 , pp. e1002197
    • Fehrmann, R.S.1    Jansen, R.C.2    Veldink, J.H.3    Westra, H.J.4    Arends, D.5
  • 71
    • 84861153094 scopus 로고    scopus 로고
    • Matrix eQTL. ultra fast eQTL analysis via large matrix operations
    • Shabalin AA, (2012) Matrix eQTL. ultra fast eQTL analysis via large matrix operations. Bioinformatics 28 (10): 1353–1358. doi: 10.1093/bioinformatics/bts163 22492648
    • (2012) Bioinformatics , vol.28 , Issue.10 , pp. 1353-1358
    • Shabalin, A.A.1
  • 72
    • 84943532540 scopus 로고    scopus 로고
    • Kirsten H, Al-Hasani H, Holdt LM, Gross A, Beutner F et al. (2014) Dissecting the Genetics of the Human Transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci (submitted).
  • 73
    • 84943530079 scopus 로고
    • The distribution of the instrumental variables estimator and its t-ratio when the instrument is a poor one
    • Nelson CR, Startz R (1988) The distribution of the instrumental variables estimator and its t-ratio when the instrument is a poor one. NBER TECHNICAL WORKING PAPER SERIES (#69).
    • (1988)
    • Nelson, C.R.1    Startz, R.2
  • 74
    • 40849083720 scopus 로고    scopus 로고
    • Mendelian randomization: using genes as instruments for making causal inferences in epidemiology
    • Lawlor DA, Harbord RM, Sterne Jonathan A C, Timpson N, Davey Smith G, (2008) Mendelian randomization: using genes as instruments for making causal inferences in epidemiology. Statistics in medicine 27 (8): 1133–1163. 17886233
    • (2008) Statistics in medicine , vol.27 , Issue.8 , pp. 1133-1163
    • Lawlor, D.A.1    Harbord, R.M.2    Sterne, J.A.C.3    Timpson, N.4    Davey Smith, G.5
  • 75
    • 0001077032 scopus 로고
    • Nonparametric estimates of standard error: the jackknife, the bootstrap and other methods
    • Efron B, (1981) Nonparametric estimates of standard error: the jackknife, the bootstrap and other methods. Biometrika 68 (3): 589–599.
    • (1981) Biometrika , vol.68 , Issue.3 , pp. 589-599
    • Efron, B.1


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