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Volumn 7, Issue AUG, 2016, Pages

The importance of context: Uncovering species- and tissue-specific effects of genetic risk variants for type 2 diabetes

Author keywords

Epigenetics; Gene regulation; Genetic association; Genetic mechanism; Genome wide association study; Genomic annotation; Type 2 diabetes

Indexed keywords

GENE EXPRESSION; GENETIC RISK; GENETIC VARIATION; GENOME; GENOME-WIDE ASSOCIATION STUDY; HUMAN; NON INSULIN DEPENDENT DIABETES MELLITUS; NOTE; QUANTITATIVE TRAIT; REGULATORY SEQUENCE; RNA SPLICING; RNA TRANSLATION; TISSUE SPECIFICITY;

EID: 84989339667     PISSN: None     EISSN: 16642392     Source Type: Journal    
DOI: 10.3389/fendo.2016.00112     Document Type: Note
Times cited : (3)

References (51)
  • 1
    • 77954143522 scopus 로고    scopus 로고
    • Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
    • Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 42:579-89. doi: 10.1038/ng.609
    • (2010) Nat Genet , vol.42 , pp. 579-589
    • Voight, B.F.1    Scott, L.J.2    Steinthorsdottir, V.3    Morris, A.P.4    Dina, C.5    Welch, R.P.6
  • 2
    • 84868337361 scopus 로고    scopus 로고
    • Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
    • Morris AP, Voight BF, Teslovich TM, Ferreira T, Segrè AV, Steinthorsdottir V, et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 44:981-90. doi:10.1038/ng.2383
    • (2012) Nat Genet , vol.44 , pp. 981-990
    • Morris, A.P.1    Voight, B.F.2    Teslovich, T.M.3    Ferreira, T.4    Segrè, A.V.5    Steinthorsdottir, V.6
  • 3
    • 84895868553 scopus 로고    scopus 로고
    • Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
    • DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium, South Asian Type 2 Diabetes (SAT2D) Consortium, Mexican American Type 2 Diabetes (MAT2D) Consortium, Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in muylti-Ethnic Samples (T2D-GENES) Consortium, Mahajan A, et al. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 46:234-44. doi:10.1038/ng.2897
    • (2014) Nat Genet , vol.46 , pp. 234-244
    • Mahajan, A.1
  • 4
    • 84869436774 scopus 로고    scopus 로고
    • Interpreting noncoding genetic variation in complex traits and human disease
    • Ward LD, Kellis M. Interpreting noncoding genetic variation in complex traits and human disease. Nat Biotechnol (2012) 30:1095-106. doi:10.1038/nbt.2422
    • (2012) Nat Biotechnol , vol.30 , pp. 1095-1106
    • Ward, L.D.1    Kellis, M.2
  • 6
    • 84887322043 scopus 로고    scopus 로고
    • Identification of genetic variants that affect histone modifications in human cells
    • McVicker G, van de Geijn B, Degner JF, Cain CE, Banovich NE, Raj A, et al. Identification of genetic variants that affect histone modifications in human cells. Science (2013) 342:747-9. doi:10.1126/science.1242429
    • (2013) Science , vol.342 , pp. 747-749
    • McVicker, G.1    van de Geijn, B.2    Degner, J.F.3    Cain, C.E.4    Banovich, N.E.5    Raj, A.6
  • 7
    • 84876216563 scopus 로고    scopus 로고
    • Master transcription factors and mediator establish super-enhancers at key cell identity genes
    • Whyte WA, Orlando DA, Hnisz D, Abraham BJ, Lin CY, Kagey MH, et al. Master transcription factors and mediator establish super-enhancers at key cell identity genes. Cell (2013) 153:307-19. doi:10.1016/j.cell.2013.03.035
    • (2013) Cell , vol.153 , pp. 307-319
    • Whyte, W.A.1    Orlando, D.A.2    Hnisz, D.3    Abraham, B.J.4    Lin, C.Y.5    Kagey, M.H.6
  • 9
    • 84887072795 scopus 로고    scopus 로고
    • Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants
    • Parker SC, Stitzel ML, Taylor DL, Orozco JM, Erdos MR, Akiyama JA, et al. Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants. Proc Natl Acad Sci U S A (2013) 110:17921-6. doi:10.1073/pnas.1317023110
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 17921-17926
    • Parker, S.C.1    Stitzel, M.L.2    Taylor, D.L.3    Orozco, J.M.4    Erdos, M.R.5    Akiyama, J.A.6
  • 11
    • 84873086126 scopus 로고    scopus 로고
    • Chromatin marks identify critical cell types for fine mapping complex trait variants
    • Trynka G, Sandor C, Han B, Xu H, Stranger BE, Liu XS, et al. Chromatin marks identify critical cell types for fine mapping complex trait variants. Nat Genet (2013) 45:124-30. doi:10.1038/ng.2504
    • (2013) Nat Genet , vol.45 , pp. 124-130
    • Trynka, G.1    Sandor, C.2    Han, B.3    Xu, H.4    Stranger, B.E.5    Liu, X.S.6
  • 12
    • 84901298851 scopus 로고    scopus 로고
    • Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity
    • Dimas AS, Lagou V, Barker A, Knowles JW, Mägi R, Hivert MF, et al. Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity. Diabetes (2014) 63:2158-71. doi:10.2337/db13-0949
    • (2014) Diabetes , vol.63 , pp. 2158-2171
    • Dimas, A.S.1    Lagou, V.2    Barker, A.3    Knowles, J.W.4    Mägi, R.5    Hivert, M.F.6
  • 13
    • 84922282349 scopus 로고    scopus 로고
    • Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait
    • Torres JM, Gamazon ER, Parra EJ, Below JE, Valladares-Salgado A, Wacher N, et al. Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait. Am J Hum Genet (2014) 95:521-34. doi:10.1016/j.ajhg.2014.10.001
    • (2014) Am J Hum Genet , vol.95 , pp. 521-534
    • Torres, J.M.1    Gamazon, E.R.2    Parra, E.J.3    Below, J.E.4    Valladares-Salgado, A.5    Wacher, N.6
  • 14
    • 84948984088 scopus 로고    scopus 로고
    • Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
    • Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, et al. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nat Genet (2015) 47:1415-25. doi:10.1038/ng.3437
    • (2015) Nat Genet , vol.47 , pp. 1415-1425
    • Gaulton, K.J.1    Ferreira, T.2    Lee, Y.3    Raimondo, A.4    Mägi, R.5    Reschen, M.E.6
  • 15
    • 84953234597 scopus 로고    scopus 로고
    • Transcript expression data from human islets links regulatory signals from genome-wide association studies for type 2 diabetes and glycemic traits to their downstream effectors
    • van de Bunt M, Manning Fox JE, Dai X, Barrett A, Grey C, Li L, et al. Transcript expression data from human islets links regulatory signals from genome-wide association studies for type 2 diabetes and glycemic traits to their downstream effectors. PLoS Genet (2015) 11:e1005694. doi:10.1371/journal.pgen.1005694
    • (2015) PLoS Genet , vol.11
    • van de Bunt, M.1    Manning Fox, J.E.2    Dai, X.3    Barrett, A.4    Grey, C.5    Li, L.6
  • 16
    • 58149175143 scopus 로고    scopus 로고
    • A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk
    • Bouatia-Naji N, Bonnefond A, Cavalcanti-Proença C, Sparsø T, Holmkvist J, Marchand M, et al. A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk. Nat Genet (2009) 41:89-94. doi:10.1038/ng.277
    • (2009) Nat Genet , vol.41 , pp. 89-94
    • Bouatia-Naji, N.1    Bonnefond, A.2    Cavalcanti-Proença, C.3    Sparsø, T.4    Holmkvist, J.5    Marchand, M.6
  • 18
    • 84907222786 scopus 로고    scopus 로고
    • Global genomic and transcriptomic analysis of human pancreatic islets reveals novel genes influencing glucose metabolism
    • Fadista J, Vikman P, Laakso EO, Mollet IG, Esguerra JL, Taneera J, et al. Global genomic and transcriptomic analysis of human pancreatic islets reveals novel genes influencing glucose metabolism. Proc Natl Acad Sci U S A (2014) 111:13924-9. doi:10.1073/pnas.1402665111
    • (2014) Proc Natl Acad Sci U S A , vol.111 , pp. 13924-13929
    • Fadista, J.1    Vikman, P.2    Laakso, E.O.3    Mollet, I.G.4    Esguerra, J.L.5    Taneera, J.6
  • 19
    • 84966693052 scopus 로고    scopus 로고
    • Increased melatonin signaling is a risk factor for type 2 diabetes
    • Tuomi T, Nagorny CL, Singh P, Bennet H, Yu Q, Alenkvist I, et al. Increased melatonin signaling is a risk factor for type 2 diabetes. Cell Metab (2016) 23:1067-77. doi:10.1016/j.cmet.2016.04.009
    • (2016) Cell Metab , vol.23 , pp. 1067-1077
    • Tuomi, T.1    Nagorny, C.L.2    Singh, P.3    Bennet, H.4    Yu, Q.5    Alenkvist, I.6
  • 20
    • 84857654651 scopus 로고    scopus 로고
    • Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes
    • Bonnefond A, Clément N, Fawcett K, Yengo L, Vaillant E, Guillaume JL, et al. Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes. Nat Genet (2012) 44:297-301. doi:10.1038/ng.1053
    • (2012) Nat Genet , vol.44 , pp. 297-301
    • Bonnefond, A.1    Clément, N.2    Fawcett, K.3    Yengo, L.4    Vaillant, E.5    Guillaume, J.L.6
  • 22
    • 84891347416 scopus 로고    scopus 로고
    • Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
    • Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, et al. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet (2014) 46:61-4. doi:10.1038/ng.2826
    • (2014) Nat Genet , vol.46 , pp. 61-64
    • Weedon, M.N.1    Cebola, I.2    Patch, A.M.3    Flanagan, S.E.4    De Franco, E.5    Caswell, R.6
  • 24
    • 36849011549 scopus 로고    scopus 로고
    • Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies
    • Grarup N, Rose CS, Andersson EA, Andersen G, Nielsen AL, Albrechtsen A, et al. Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies. Diabetes (2007) 56:3105-11. doi:10.2337/db07-0856
    • (2007) Diabetes , vol.56 , pp. 3105-3111
    • Grarup, N.1    Rose, C.S.2    Andersson, E.A.3    Andersen, G.4    Nielsen, A.L.5    Albrechtsen, A.6
  • 25
    • 33749187810 scopus 로고    scopus 로고
    • p16INK4a induces an age-dependent decline in islet regenerative potential
    • Krishnamurthy J, Ramsey MR, Ligon KL, Torrice C, Koh A, Bonner-Weir S, et al. p16INK4a induces an age-dependent decline in islet regenerative potential. Nature (2006) 443:453-7. doi:10.1038/nature05092
    • (2006) Nature , vol.443 , pp. 453-457
    • Krishnamurthy, J.1    Ramsey, M.R.2    Ligon, K.L.3    Torrice, C.4    Koh, A.5    Bonner-Weir, S.6
  • 26
    • 84962476739 scopus 로고    scopus 로고
    • Loss-of-function mutations in the cell-cycle control gene CDKN2A impact on glucose homeostasis in humans
    • Pal A, Potjer TP, Thomsen SK, Ng HJ, Barrett A, Scharfmann R, et al. Loss-of-function mutations in the cell-cycle control gene CDKN2A impact on glucose homeostasis in humans. Diabetes (2016) 65:527-33. doi:10.2337/db15-0602
    • (2016) Diabetes , vol.65 , pp. 527-533
    • Pal, A.1    Potjer, T.P.2    Thomsen, S.K.3    Ng, H.J.4    Barrett, A.5    Scharfmann, R.6
  • 27
    • 78049446282 scopus 로고    scopus 로고
    • Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci
    • Stitzel ML, Sethupathy P, Pearson DS, Chines PS, Song L, Erdos MR, et al. Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci. Cell Metab (2010) 12:443-55. doi:10.1016/j.cmet.2010.09.012
    • (2010) Cell Metab , vol.12 , pp. 443-455
    • Stitzel, M.L.1    Sethupathy, P.2    Pearson, D.S.3    Chines, P.S.4    Song, L.5    Erdos, M.R.6
  • 28
    • 84906226932 scopus 로고    scopus 로고
    • A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes
    • Moltke I, Grarup N, Jørgensen ME, Bjerregaard P, Treebak JT, Fumagalli M, et al. A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes. Nature (2014) 512:190-3. doi:10.1038/nature13425
    • (2014) Nature , vol.512 , pp. 190-193
    • Moltke, I.1    Grarup, N.2    Jørgensen, M.E.3    Bjerregaard, P.4    Treebak, J.T.5    Fumagalli, M.6
  • 29
    • 55049094499 scopus 로고    scopus 로고
    • Identification of a novel AS160 splice variant that regulates GLUT4 translocation and glucose-uptake in rat muscle cells
    • Baus D, Heermeier K, De Hoop M, Metz-Weidmann C, Gassenhuber J, Dittrich W, et al. Identification of a novel AS160 splice variant that regulates GLUT4 translocation and glucose-uptake in rat muscle cells. Cell Signal (2008) 20:2237-46. doi:10.1016/j.cellsig.2008.08.010
    • (2008) Cell Signal , vol.20 , pp. 2237-2246
    • Baus, D.1    Heermeier, K.2    De Hoop, M.3    Metz-Weidmann, C.4    Gassenhuber, J.5    Dittrich, W.6
  • 31
    • 33751285706 scopus 로고    scopus 로고
    • Limited role for SREBP-1c in defective glucose-induced insulin secretion from Zucker diabetic fatty rat islets: a functional and gene profiling analysis
    • Parton LE, McMillen PJ, Shen Y, Docherty E, Sharpe E, Diraison F, et al. Limited role for SREBP-1c in defective glucose-induced insulin secretion from Zucker diabetic fatty rat islets: a functional and gene profiling analysis. Am J Physiol Endocrinol Metab (2006) 291:E982-94. doi:10.1152/ajpendo.00067.2006
    • (2006) Am J Physiol Endocrinol Metab , vol.291 , pp. E982-E994
    • Parton, L.E.1    McMillen, P.J.2    Shen, Y.3    Docherty, E.4    Sharpe, E.5    Diraison, F.6
  • 32
    • 84859254586 scopus 로고    scopus 로고
    • The human pancreatic islet transcriptome: expression of candidate genes for type 1 diabetes and the impact of pro-inflammatory cytokines
    • Eizirik DL, Sammeth M, Bouckenooghe T, Bottu G, Sisino G, Igoillo-Esteve M, et al. The human pancreatic islet transcriptome: expression of candidate genes for type 1 diabetes and the impact of pro-inflammatory cytokines. PLoS Genet (2012) 8(3):e1002552. doi:10.1371/journal.pgen.1002552
    • (2012) PLoS Genet , vol.8 , Issue.3
    • Eizirik, D.L.1    Sammeth, M.2    Bouckenooghe, T.3    Bottu, G.4    Sisino, G.5    Igoillo-Esteve, M.6
  • 33
    • 77949775636 scopus 로고    scopus 로고
    • Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice
    • Visel A, Zhu Y, May D, Afzal V, Gong E, Attanasio C, et al. Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice. Nature (2010) 464:409-12. doi:10.1038/nature08801
    • (2010) Nature , vol.464 , pp. 409-412
    • Visel, A.1    Zhu, Y.2    May, D.3    Afzal, V.4    Gong, E.5    Attanasio, C.6
  • 34
    • 84878646684 scopus 로고    scopus 로고
    • ANRIL: molecular mechanisms and implications in human health
    • Congrains A, Kamide K, Ohishi M, Rakugi H. ANRIL: molecular mechanisms and implications in human health. Int J Mol Sci (2013) 14:1278-92. doi:10.3390/ijms14011278
    • (2013) Int J Mol Sci , vol.14 , pp. 1278-1292
    • Congrains, A.1    Kamide, K.2    Ohishi, M.3    Rakugi, H.4
  • 35
    • 84881141882 scopus 로고    scopus 로고
    • Cooperativity and rapid evolution of cobound transcription factors in closely related mammals
    • Stefflova K, Thybert D, Wilson MD, Streeter I, Aleksic J, Karagianni P, et al. Cooperativity and rapid evolution of cobound transcription factors in closely related mammals. Cell (2013) 154:530-40. doi:10.1016/j.cell.2013.07.007
    • (2013) Cell , vol.154 , pp. 530-540
    • Stefflova, K.1    Thybert, D.2    Wilson, M.D.3    Streeter, I.4    Aleksic, J.5    Karagianni, P.6
  • 36
    • 77953062527 scopus 로고    scopus 로고
    • Five-vertebrate ChIP-seq reveals the evolutionary dynamics of transcription factor binding
    • Schmidt D, Wilson MD, Ballester B, Schwalie PC, Brown GD, Marshall A, et al. Five-vertebrate ChIP-seq reveals the evolutionary dynamics of transcription factor binding. Science (2010) 328:1036-40. doi:10.1126/science.1186176
    • (2010) Science , vol.328 , pp. 1036-1040
    • Schmidt, D.1    Wilson, M.D.2    Ballester, B.3    Schwalie, P.C.4    Brown, G.D.5    Marshall, A.6
  • 37
    • 84922313916 scopus 로고    scopus 로고
    • Multi-species, multi-transcription factor binding highlights conserved control of tissue-specific biological pathways
    • Ballester B, Medina-Rivera A, Schmidt D, Gonzàlez-Porta M, Carlucci M, Chen X, et al. Multi-species, multi-transcription factor binding highlights conserved control of tissue-specific biological pathways. Elife (2014) 3:e02626. doi:10.7554/eLife.02626
    • (2014) Elife , vol.3
    • Ballester, B.1    Medina-Rivera, A.2    Schmidt, D.3    Gonzàlez-Porta, M.4    Carlucci, M.5    Chen, X.6
  • 38
    • 84892689100 scopus 로고    scopus 로고
    • Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms
    • Claussnitzer M, Dankel SN, Klocke B, Grallert H, Glunk V, Berulava T, et al. Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms. Cell (2014) 156:343-58. doi:10.1016/j.cell.2013.10.058
    • (2014) Cell , vol.156 , pp. 343-358
    • Claussnitzer, M.1    Dankel, S.N.2    Klocke, B.3    Grallert, H.4    Glunk, V.5    Berulava, T.6
  • 39
    • 84858383401 scopus 로고    scopus 로고
    • Diabetes mellitus and the beta cell: the last ten years
    • Ashcroft FM, Rorsman P. Diabetes mellitus and the beta cell: the last ten years. Cell (2012) 148:1160-71. doi:10.1016/j.cell.2012.02.010
    • (2012) Cell , vol.148 , pp. 1160-1171
    • Ashcroft, F.M.1    Rorsman, P.2
  • 40
    • 80052343967 scopus 로고    scopus 로고
    • A genetically engineered human pancreatic beta cell line exhibiting glucose-inducible insulin secretion
    • Ravassard P, Hazhouz Y, Pechberty S, Bricout-Neveu E, Armanet M, Czernichow P, et al. A genetically engineered human pancreatic beta cell line exhibiting glucose-inducible insulin secretion. J Clin Invest (2011) 121:3589-97. doi:10.1172/JCI58447
    • (2011) J Clin Invest , vol.121 , pp. 3589-3597
    • Ravassard, P.1    Hazhouz, Y.2    Pechberty, S.3    Bricout-Neveu, E.4    Armanet, M.5    Czernichow, P.6
  • 41
    • 33144467088 scopus 로고    scopus 로고
    • The unique cytoarchitecture of human pancreatic islets has implications for islet cell function
    • Cabrera O, Berman DM, Kenyon NS, Ricordi C, Berggren PO, Caicedo A. The unique cytoarchitecture of human pancreatic islets has implications for islet cell function. Proc Natl Acad Sci U S A (2006) 103:2334-9. doi:10.1073/pnas.0510790103
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 2334-2339
    • Cabrera, O.1    Berman, D.M.2    Kenyon, N.S.3    Ricordi, C.4    Berggren, P.O.5    Caicedo, A.6
  • 42
    • 84904755484 scopus 로고    scopus 로고
    • The pancreatic beta cell: recent insights from human genetics
    • Thomsen SK, Gloyn AL. The pancreatic beta cell: recent insights from human genetics. Trends Endocrinol Metab (2014) 25:425-34. doi:10.1016/j.tem.2014.05.001
    • (2014) Trends Endocrinol Metab , vol.25 , pp. 425-434
    • Thomsen, S.K.1    Gloyn, A.L.2
  • 43
    • 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) 506:376-81. doi:10.1038/nature12873
    • (2014) Nature , vol.506 , pp. 376-381
    • Okada, Y.1    Wu, D.2    Trynka, G.3    Raj, T.4    Terao, C.5    Ikari, K.6
  • 44
    • 84923362619 scopus 로고    scopus 로고
    • Integrative analysis of 111 reference human epigenomes
    • Roadmap Epigenomics Consortium, Kundaje A, Meuleman W, Ernst J, Bilenky M, Yen A, et al. Integrative analysis of 111 reference human epigenomes. Nature (2015) 518:317-30. doi:10.1038/nature14248
    • (2015) Nature , vol.518 , pp. 317-330
    • Kundaje, A.1    Meuleman, W.2    Ernst, J.3    Bilenky, M.4    Yen, A.5
  • 45
    • 84930408328 scopus 로고    scopus 로고
    • Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers
    • Onengut-Gumuscu S, Chen WM, Burren O, Cooper NJ, Quinlan AR, Mychaleckyj JC, et al. Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. Nat Genet (2015) 47:381-6. doi:10.1038/ng.3245
    • (2015) Nat Genet , vol.47 , pp. 381-386
    • Onengut-Gumuscu, S.1    Chen, W.M.2    Burren, O.3    Cooper, N.J.4    Quinlan, A.R.5    Mychaleckyj, J.C.6
  • 46
    • 85000443086 scopus 로고    scopus 로고
    • Partitioning heritability by functional annotation using genome-wide association summary statistics
    • Finucane HK, Bulik-Sullivan B, Gusev A, Trynka G, Reshef Y, Loh PR, et al. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat Genet (2015) 47:1228-35. doi:10.1038/ng.3404
    • (2015) Nat Genet , vol.47 , pp. 1228-1235
    • Finucane, H.K.1    Bulik-Sullivan, B.2    Gusev, A.3    Trynka, G.4    Reshef, Y.5    Loh, P.R.6
  • 47
    • 79957607662 scopus 로고    scopus 로고
    • Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
    • Small KS, Hedman AK, Grundberg E, Nica AC, Thorleifsson G, Kong A, et al. Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes. Nat Genet (2011) 43:561-4. doi:10.1038/ng.833
    • (2011) Nat Genet , vol.43 , pp. 561-564
    • Small, K.S.1    Hedman, A.K.2    Grundberg, E.3    Nica, A.C.4    Thorleifsson, G.5    Kong, A.6
  • 48
    • 77955499945 scopus 로고    scopus 로고
    • From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
    • Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV, et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature (2010) 466:714-9. doi:10.1038/nature09266
    • (2010) Nature , vol.466 , pp. 714-719
    • Musunuru, K.1    Strong, A.2    Frank-Kamenetsky, M.3    Lee, N.E.4    Ahfeldt, T.5    Sachs, K.V.6
  • 49
    • 79952192654 scopus 로고    scopus 로고
    • Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
    • Adrianto I, Wen F, Templeton A, Wiley G, King JB, Lessard CJ, et al. Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus. Nat Genet (2011) 43:253-8. doi:10.1038/ng.766
    • (2011) Nat Genet , vol.43 , pp. 253-258
    • Adrianto, I.1    Wen, F.2    Templeton, A.3    Wiley, G.4    King, J.B.5    Lessard, C.J.6
  • 50
    • 84860317030 scopus 로고    scopus 로고
    • Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles
    • Fairfax BP, Makino S, Radhakrishnan J, Plant K, Leslie S, Dilthey A, et al. Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles. Nat Genet (2012) 44:502-10. doi:10.1038/ng.2205
    • (2012) Nat Genet , vol.44 , pp. 502-510
    • Fairfax, B.P.1    Makino, S.2    Radhakrishnan, J.3    Plant, K.4    Leslie, S.5    Dilthey, A.6
  • 51
    • 84923326765 scopus 로고    scopus 로고
    • Genetic and epigenetic fine mapping of causal autoimmune disease variants
    • Farh KK, Marson A, Zhu J, Kleinewietfeld M, Housley WJ, Beik S, et al. Genetic and epigenetic fine mapping of causal autoimmune disease variants. Nature (2015) 518:337-43. doi:10.1038/nature13835
    • (2015) Nature , vol.518 , pp. 337-343
    • Farh, K.K.1    Marson, A.2    Zhu, J.3    Kleinewietfeld, M.4    Housley, W.J.5    Beik, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.