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Volumn 6, Issue , 2015, Pages

Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma

(34)  Swaminathan, Bhairavi a   Thorleifsson, Gudmar b   Jöud, Magnus a,c   Ali, Mina a   Johnsson, Ellinor a   Ajore, Ram a   Sulem, Patrick b   Halvarsson, Britt Marie a   Eyjolfsson, Gudmundur d   Haraldsdottir, Vilhelmina e   Hultman, Christina f   Ingelsson, Erik g   Kristinsson, Sigurdur Y h   Kähler, Anna K f   Lenhoff, Stig i   Masson, Gisli b   Mellqvist, Ulf Henrik j   Månsson, Robert f   Nelander, Sven k   Olafsson, Isleifur e   more..


Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; MESSENGER RNA; ELL2 PROTEIN, HUMAN; PROTEIN; TOM1 PROTEIN, HUMAN; TRANSCRIPTION ELONGATION FACTOR;

EID: 84930226491     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms8213     Document Type: Article
Times cited : (70)

References (52)
  • 1
    • 84908604358 scopus 로고    scopus 로고
    • International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma
    • Rajkumar, S. V. et al. International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma. Lancet Oncol. 15, e538-e548 (2014).
    • (2014) Lancet Oncol , vol.15 , pp. e538-e548
    • Rajkumar, S.V.1
  • 3
    • 67049114114 scopus 로고    scopus 로고
    • A monoclonal gammopathy precedes multiple myeloma in most patients
    • Weiss, B. M., Abadie, J., Verma, P., Howard, R. S. & Kuehl, W. M. A monoclonal gammopathy precedes multiple myeloma in most patients. Blood 113, 5418-5422 (2009).
    • (2009) Blood , vol.113 , pp. 5418-5422
    • Weiss, B.M.1    Abadie, J.2    Verma, P.3    Howard, R.S.4    Kuehl, W.M.5
  • 4
    • 70449474006 scopus 로고    scopus 로고
    • Patterns of survival and causes of death following a diagnosis of monoclonal gammopathy of undetermined significance: A population-based study
    • Kristinsson, S. Y. et al. Patterns of survival and causes of death following a diagnosis of monoclonal gammopathy of undetermined significance: a population-based study. Haematologica 94, 1714-1720 (2009).
    • (2009) Haematologica , vol.94 , pp. 1714-1720
    • Kristinsson, S.Y.1
  • 5
    • 33645416095 scopus 로고    scopus 로고
    • Prevalence of monoclonal gammopathy of undetermined significance
    • Kyle, R. A. et al. Prevalence of monoclonal gammopathy of undetermined significance. N. Engl. J. Med. 354, 1362-1369 (2006).
    • (2006) N. Engl. J. Med , vol.354 , pp. 1362-1369
    • Kyle, R.A.1
  • 7
    • 46949099848 scopus 로고    scopus 로고
    • Familial myeloma
    • Lynch, H. T. et al. Familial myeloma. N. Engl. J. Med. 359, 152-157 (2008).
    • (2008) N. Engl. J. Med , vol.359 , pp. 152-157
    • Lynch, H.T.1
  • 8
    • 70249141700 scopus 로고    scopus 로고
    • Patterns of hematologic malignancies and solid tumors among 37, 838 first-degree relatives of 13, 896 patients with multiple myeloma in Sweden
    • Kristinsson, S. Y. et al. Patterns of hematologic malignancies and solid tumors among 37, 838 first-degree relatives of 13, 896 patients with multiple myeloma in Sweden. Int. J. Cancer 125, 2147-2150 (2009).
    • (2009) Int. J. Cancer , vol.125 , pp. 2147-2150
    • Kristinsson, S.Y.1
  • 9
    • 68249141862 scopus 로고    scopus 로고
    • Risk of plasma cell and lymphoproliferative disorders among 14 621 first-degree relatives of 4458 patients with monoclonal gammopathy of undetermined significance in Sweden
    • Landgren, O. et al. Risk of plasma cell and lymphoproliferative disorders among 14 621 first-degree relatives of 4458 patients with monoclonal gammopathy of undetermined significance in Sweden. Blood 114, 791-795 (2009).
    • (2009) Blood , vol.114 , pp. 791-795
    • Landgren, O.1
  • 10
    • 33746364172 scopus 로고    scopus 로고
    • Familial risks and temporal incidence trends of multiple myeloma
    • Altieri, A., Chen, B., Bermejo, J. L., Castro, F. & Hemminki, K. Familial risks and temporal incidence trends of multiple myeloma. Eur. J. Cancer 42, 1661-1670 (2006).
    • (2006) Eur. J. Cancer , vol.42 , pp. 1661-1670
    • Altieri, A.1    Chen, B.2    Bermejo, J.L.3    Castro, F.4    Hemminki, K.5
  • 11
    • 84895802141 scopus 로고    scopus 로고
    • Inherited genetic susceptibility to multiple myeloma
    • Morgan, G. J. et al. Inherited genetic susceptibility to multiple myeloma. Leukemia 28, 518-524 (2014).
    • (2014) Leukemia , vol.28 , pp. 518-524
    • Morgan, G.J.1
  • 12
    • 68249146525 scopus 로고    scopus 로고
    • Increased risk of monoclonal gammopathy in first-degree relatives of patients with multiple myeloma or monoclonal gammopathy of undetermined significance
    • Vachon, C. M. et al. Increased risk of monoclonal gammopathy in first-degree relatives of patients with multiple myeloma or monoclonal gammopathy of undetermined significance. Blood 114, 785-790 (2009).
    • (2009) Blood , vol.114 , pp. 785-790
    • Vachon, C.M.1
  • 13
    • 84878596524 scopus 로고    scopus 로고
    • The CCND1 c.870G4A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma
    • Weinhold, N. et al. The CCND1 c.870G4A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. Nat. Genet. 45, 522-525 (2013).
    • (2013) Nat. Genet , vol.45 , pp. 522-525
    • Weinhold, N.1
  • 14
    • 84655166569 scopus 로고    scopus 로고
    • Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk
    • Broderick, P. et al. Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. Nat. Genet. 44, 58-61 (2012).
    • (2012) Nat. Genet , vol.44 , pp. 58-61
    • Broderick, P.1
  • 15
    • 84885022887 scopus 로고    scopus 로고
    • Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk
    • Chubb, D. et al. Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. Nat. Genet. 45, 1221-1225 (2013).
    • (2013) Nat. Genet , vol.45 , pp. 1221-1225
    • Chubb, D.1
  • 16
    • 84878143904 scopus 로고    scopus 로고
    • Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits
    • Styrkarsdottir, U. et al. Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits. Nature 497, 517-520 (2013).
    • (2013) Nature , vol.497 , pp. 517-520
    • Styrkarsdottir, U.1
  • 17
    • 50449089222 scopus 로고    scopus 로고
    • Detection of sharing by descent, long-range phasing and haplotype imputation
    • Kong, A. et al. Detection of sharing by descent, long-range phasing and haplotype imputation. Nat. Genet. 40, 1068-1075 (2008).
    • (2008) Nat. Genet , vol.40 , pp. 1068-1075
    • Kong, A.1
  • 18
    • 72449122779 scopus 로고    scopus 로고
    • Parental origin of sequence variants associated with complex diseases
    • Kong, A. et al. Parental origin of sequence variants associated with complex diseases. Nature 462, 868-874 (2009).
    • (2009) Nature , vol.462 , pp. 868-874
    • Kong, A.1
  • 19
    • 67049162188 scopus 로고    scopus 로고
    • Monoclonal gammopathy of undetermined significance (MGUS) consistently precedes multiple myeloma: A prospective study
    • Landgren, O. et al. Monoclonal gammopathy of undetermined significance (MGUS) consistently precedes multiple myeloma: a prospective study. Blood 113, 5412-5417 (2009).
    • (2009) Blood , vol.113 , pp. 5412-5417
    • Landgren, O.1
  • 20
    • 84860774174 scopus 로고    scopus 로고
    • The ubiquitin ligase Siah1 controls ELL2 stability and formation of super elongation complexes to modulate gene transcription
    • Liu, M., Hsu, J., Chan, C., Li, Z. & Zhou, Q. The ubiquitin ligase Siah1 controls ELL2 stability and formation of super elongation complexes to modulate gene transcription. Mol. Cell 46, 325-334 (2012).
    • (2012) Mol. Cell , vol.46 , pp. 325-334
    • Liu, M.1    Hsu, J.2    Chan, C.3    Li, Z.4    Zhou, Q.5
  • 21
    • 84865419994 scopus 로고    scopus 로고
    • The super elongation complex (SEC) family in transcriptional control
    • Luo, Z., Lin, C. & Shilatifard, A. The super elongation complex (SEC) family in transcriptional control. Nat. Rev. Mol. Cell Biol. 13, 543-547 (2012).
    • (2012) Nat. Rev. Mol. Cell Biol , vol.13 , pp. 543-547
    • Luo, Z.1    Lin, C.2    Shilatifard, A.3
  • 22
    • 84867070903 scopus 로고    scopus 로고
    • Heterogeneous nuclear ribonucleoprotein L-like (hnRNPLL) and elongation factor, RNA polymerase II, 2 (ELL2) are regulators ofmRNA processing in plasma cells
    • Benson, M. J. et al. Heterogeneous nuclear ribonucleoprotein L-like (hnRNPLL) and elongation factor, RNA polymerase II, 2 (ELL2) are regulators ofmRNA processing in plasma cells. Proc. Natl Acad. Sci. USA 109, 16252-16257 (2012).
    • (2012) Proc. Natl Acad. Sci. USA , vol.109 , pp. 16252-16257
    • Benson, M.J.1
  • 23
    • 79961170894 scopus 로고    scopus 로고
    • Transcriptional and epigenetic regulation of B cell development
    • Santos, P., Arumemi, F., Park, K. S., Borghesi, L. & Milcarek, C. Transcriptional and epigenetic regulation of B cell development. Immunol. Res. 50, 105-112 (2011).
    • (2011) Immunol. Res , vol.50 , pp. 105-112
    • Santos, P.1    Arumemi, F.2    Park, K.S.3    Borghesi, L.4    Milcarek, C.5
  • 24
    • 70349456510 scopus 로고    scopus 로고
    • Transcription elongation factor ELL2 directs immunoglobulin secretion in plasma cells by stimulating altered RNA processing
    • Martincic, K., Alkan, S. A., Cheatle, A., Borghesi, L. & Milcarek, C. Transcription elongation factor ELL2 directs immunoglobulin secretion in plasma cells by stimulating altered RNA processing. Nat. Immunol. 10, 1102-1109 (2009).
    • (2009) Nat. Immunol , vol.10 , pp. 1102-1109
    • Martincic, K.1    Alkan, S.A.2    Cheatle, A.3    Borghesi, L.4    Milcarek, C.5
  • 25
    • 38849142608 scopus 로고    scopus 로고
    • Increased phosphorylation of the carboxyl-terminal domain of RNA polymerase II and loading of polyadenylation and cotranscriptional factors contribute to regulation of the Ig heavy chain mRNA in plasma cells
    • Shell, S. A., Martincic, K., Tran, J. & Milcarek, C. Increased phosphorylation of the carboxyl-terminal domain of RNA polymerase II and loading of polyadenylation and cotranscriptional factors contribute to regulation of the Ig heavy chain mRNA in plasma cells. J. Immunol. 179, 7663-7673 (2007).
    • (2007) J. Immunol , vol.179 , pp. 7663-7673
    • Shell, S.A.1    Martincic, K.2    Tran, J.3    Milcarek, C.4
  • 26
    • 84908136678 scopus 로고    scopus 로고
    • Transcription elongation factor ELL2 drives Ig secretoryspecific mRNA production and the unfolded protein response
    • Park, K. S. et al. transcription elongation factor ELL2 drives Ig secretoryspecific mRNA production and the unfolded protein response. J. Immunol. 193, 4663-4674 (2014).
    • (2014) J. Immunol , vol.193 , pp. 4663-4674
    • Park, K.S.1
  • 27
    • 84867070903 scopus 로고    scopus 로고
    • Heterogeneous nuclear ribonucleoprotein L-like (hnRNPLL) and elongation factor, RNA polymerase II, 2 (ELL2) are regulators of mRNA processing in plasma cells
    • Benson, M. J. et al. Heterogeneous nuclear ribonucleoprotein L-like (hnRNPLL) and elongation factor, RNA polymerase II, 2 (ELL2) are regulators of mRNA processing in plasma cells. Proc. Natl Acad. Sci. USA 109, 16252-16257 (2012).
    • (2012) Proc. Natl Acad. Sci. USA , vol.109 , pp. 16252-16257
    • Benson, M.J.1
  • 28
    • 84899862309 scopus 로고    scopus 로고
    • Regulation of MYC expression and differential JQ1 sensitivity in cancer cells
    • Fowler, T. et al. Regulation of MYC expression and differential JQ1 sensitivity in cancer cells. PloS ONE 9, e87003 (2014).
    • (2014) PloS ONE , vol.9
    • Fowler, T.1
  • 29
    • 0030936569 scopus 로고    scopus 로고
    • ELL2, a new member of an ELL family of RNA polymerase II elongation factors
    • Shilatifard, A. et al. ELL2, a new member of an ELL family of RNA polymerase II elongation factors. Proc. Natl Acad. Sci. USA 94, 3639-3643 (1997).
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 3639-3643
    • Shilatifard, A.1
  • 30
    • 84867271277 scopus 로고    scopus 로고
    • Discovery and fine mapping of serum protein loci through transethnic meta-analysis
    • Franceschini, N. et al. Discovery and fine mapping of serum protein loci through transethnic meta-analysis. Am. J. Hum. Genet. 91, 744-753 (2012).
    • (2012) Am. J. Hum. Genet , vol.91 , pp. 744-753
    • Franceschini, N.1
  • 31
    • 84885020424 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies 13 new risk loci for schizophrenia
    • Ripke, S. et al. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat. Genet. 45, 1150-1159 (2013).
    • (2013) Nat. Genet , vol.45 , pp. 1150-1159
    • Ripke, S.1
  • 33
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007).
    • (2007) Am. J. Hum. Genet , vol.81 , pp. 559-575
    • Purcell, S.1
  • 34
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1, 092 human genomes
    • Consortium TGP
    • Consortium TGP. An integrated map of genetic variation from 1, 092 human genomes. Nature 491, 56-65 (2012).
    • (2012) Nature , vol.491 , pp. 56-65
  • 35
    • 0032714352 scopus 로고    scopus 로고
    • Genomic control for association studies
    • Devlin, B. & Roeder, K. Genomic control for association studies. Biometrics 55, 997-1004 (1999).
    • (1999) Biometrics , vol.55 , pp. 997-1004
    • Devlin, B.1    Roeder, K.2
  • 36
    • 84871952176 scopus 로고    scopus 로고
    • Improved whole-chromosome phasing for disease and population genetic studies
    • Delaneau, O., Zagury, J. F. & Marchini, J. Improved whole-chromosome phasing for disease and population genetic studies. Nat. Methods 10, 5-6 (2013).
    • (2013) Nat. Methods , vol.10 , pp. 5-6
    • Delaneau, O.1    Zagury, J.F.2    Marchini, J.3
  • 37
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • Howie, B. N., Donelly, P. & Marchini, J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 5, e1000529 (2009).
    • (2009) PLoS Genet , vol.5
    • Howie, B.N.1    Donelly, P.2    Marchini, J.3
  • 38
    • 77953808087 scopus 로고    scopus 로고
    • Genotype imputation for genome-wide association studies
    • Marchini, J. & Howie, B. Genotype imputation for genome-wide association studies. Nat. Rev. Genet. 11, 499-511 (2010).
    • (2010) Nat. Rev. Genet , vol.11 , pp. 499-511
    • Marchini, J.1    Howie, B.2
  • 39
    • 84929132687 scopus 로고    scopus 로고
    • Large-scale whole-genome sequencing of the Icelandic population
    • Gudbjartsson, D. F. et al. Large-scale whole-genome sequencing of the Icelandic population. Nat. Genet. 47, 435-444 (2015).
    • (2015) Nat. Genet , vol.47 , pp. 435-444
    • Gudbjartsson, D.F.1
  • 40
    • 77956295988 scopus 로고    scopus 로고
    • The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
    • McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010).
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1
  • 41
    • 77955405475 scopus 로고    scopus 로고
    • Deriving the consequences of genomic variants with the Ensembl API and SNP effect predictor
    • McLaren, W., Pritchard, B., Rios, D., Chen, Y., Flicek, P. & Cunningham, F. Deriving the consequences of genomic variants with the Ensembl API and SNP effect predictor. Bioinformatics 26, 2069-2070 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 2069-2070
    • McLaren, W.1    Pritchard, B.2    Rios, D.3    Chen, Y.4    Flicek, P.5    Cunningham, F.6
  • 42
    • 77955894071 scopus 로고    scopus 로고
    • METAL: Fast and efficient meta-analysis of genomewide association scans
    • Willer, C. J., Li, Y. & Abecasis, G. R. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190-2191 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 2190-2191
    • Willer, C.J.1    Li, Y.2    Abecasis, G.R.3
  • 43
    • 78651486442 scopus 로고    scopus 로고
    • Densely interconnected transcriptional circuits control cell states in human hematopoiesis
    • Novershtern, N. et al. Densely interconnected transcriptional circuits control cell states in human hematopoiesis. Cell 144, 296-309 (2011).
    • (2011) Cell , vol.144 , pp. 296-309
    • Novershtern, N.1
  • 44
    • 84055212016 scopus 로고    scopus 로고
    • Mapping of chromosome 1p deletions in myeloma identifies FAM46C at 1p12 and CDKN2C at 1p32.3 as being genes in regions associated with adverse survival
    • Boyd, K. D. et al. Mapping of chromosome 1p deletions in myeloma identifies FAM46C at 1p12 and CDKN2C at 1p32.3 as being genes in regions associated with adverse survival. Clin. Cancer Res. 17, 7776-7784 (2011).
    • (2011) Clin. Cancer Res , vol.17 , pp. 7776-7784
    • Boyd, K.D.1
  • 45
    • 77957733923 scopus 로고    scopus 로고
    • Gene expression profiling for molecular classification of multiple myeloma in newly diagnosed patients
    • Broyl, A. et al. Gene expression profiling for molecular classification of multiple myeloma in newly diagnosed patients. Blood 116, 2543-2553 (2010).
    • (2010) Blood , vol.116 , pp. 2543-2553
    • Broyl, A.1
  • 46
    • 79951494668 scopus 로고    scopus 로고
    • Initial genome sequencing and analysis of multiple myeloma
    • Chapman, M. A. et al. Initial genome sequencing and analysis of multiple myeloma. Nature 471, 467-472 (2011).
    • (2011) Nature , vol.471 , pp. 467-472
    • Chapman, M.A.1
  • 47
    • 33846894934 scopus 로고    scopus 로고
    • Gene-expression signature of benign monoclonal gammopathy evident in multiple myeloma is linked to good prognosis
    • Zhan, F. et al. Gene-expression signature of benign monoclonal gammopathy evident in multiple myeloma is linked to good prognosis. Blood 109, 1692-1700 (2007).
    • (2007) Blood , vol.109 , pp. 1692-1700
    • Zhan, F.1
  • 48
    • 0141819194 scopus 로고    scopus 로고
    • The gene encoding phosphodiesterase 4D confers risk of ischemic stroke
    • Gretarsdottir, S. et al. The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. Nat. Genet. 35, 131-138 (2003).
    • (2003) Nat. Genet , vol.35 , pp. 131-138
    • Gretarsdottir, S.1
  • 49
    • 41349095280 scopus 로고    scopus 로고
    • Genetics of gene expression and its effect on disease
    • Emilsson, V. et al. Genetics of gene expression and its effect on disease. Nature 452, 423-428 (2008).
    • (2008) Nature , vol.452 , pp. 423-428
    • Emilsson, V.1
  • 50
    • 84885018609 scopus 로고    scopus 로고
    • Systematic identification of trans eQTLs as putative drivers of known disease associations
    • Westra, H. J. et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat. Genet. 45, 1238-1243 (2013).
    • (2013) Nat. Genet , vol.45 , pp. 1238-1243
    • Westra, H.J.1
  • 51
    • 77956331627 scopus 로고    scopus 로고
    • Integrating common and rare genetic variation in diverse human populations
    • Consortium TIH. Integrating common and rare genetic variation in diverse human populations. Nature 467, 52-58 (2010).
    • (2010) Nature , vol.467 , pp. 52-58
    • Consortium, T.I.H.1
  • 52
    • 84885645853 scopus 로고    scopus 로고
    • Transcriptome and genome sequencing uncovers functional variation in humans
    • Lappalainen, T. et al. Transcriptome and genome sequencing uncovers functional variation in humans. Nature 501, 506-511 (2013).
    • (2013) Nature , vol.501 , pp. 506-511
    • Lappalainen, T.1


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