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Volumn 9, Issue 389, 2017, Pages

Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants

(17)  Karnes, Jason H a   Bastarache, Lisa b   Shaffer, Christian M b   Gaudieri, Silvana b,c,d   Xu, Yaomin b,e   Glazer, Andrew M b   Mosley, Jonathan D b   Zhao, Shilin b   Raychaudhuri, Soumya f,g,h,i,j   Mallal, Simon b,d,e   Ye, Zhan k   Mayer, John G k   Brilliant, Murray H k   Hebbring, Scott J k   Roden, Dan M b,e   Phillips, Elizabeth J b,e   Denny, Joshua C b  


Author keywords

[No Author keywords available]

Indexed keywords

HLA A ANTIGEN; HLA B ANTIGEN; HLA C ANTIGEN; HLA DPB1 ANTIGEN; HLA DQA1 ANTIGEN; HLA DQB1 ANTIGEN; HLA DRB1 ANTIGEN; HLA ANTIGEN CLASS 2; HLA DQ ANTIGEN; HLA-DQB1 ANTIGEN;

EID: 85019257454     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.aai8708     Document Type: Article
Times cited : (86)

References (65)
  • 1
    • 84882449068 scopus 로고    scopus 로고
    • Genetic insights into common pathways and complex relationships among immune-mediated diseases
    • M. Parkes, A. Cortes, D. A. van Heel, M. A. Brown, Genetic insights into common pathways and complex relationships among immune-mediated diseases. Nat. Rev. Genet. 14, 661-673 (2013).
    • (2013) Nat. Rev. Genet. , vol.14 , pp. 661-673
    • Parkes, M.1    Cortes, A.2    Van Heel, D.A.3    Brown, M.A.4
  • 5
    • 79953314023 scopus 로고    scopus 로고
    • HLA∗IMP-An integrated framework for imputing classical HLA alleles from SNP genotypes
    • A. T. Dilthey, L. Moutsianas, S. Leslie, G. McVean, HLA∗IMP-An integrated framework for imputing classical HLA alleles from SNP genotypes. Bioinformatics 27, 968-972 (2011).
    • (2011) Bioinformatics , vol.27 , pp. 968-972
    • Dilthey, A.T.1    Moutsianas, L.2    Leslie, S.3    McVean, G.4
  • 9
    • 84958659058 scopus 로고    scopus 로고
    • Unravelling the human genome-phenome relationship using phenome-wide association studies
    • W. S. Bush, M. T. Oetjens, D. C. Crawford, Unravelling the human genome-phenome relationship using phenome-wide association studies. Nat. Rev. Genet. 17, 129-145 (2016).
    • (2016) Nat. Rev. Genet. , vol.17 , pp. 129-145
    • Bush, W.S.1    Oetjens, M.T.2    Crawford, D.C.3
  • 15
    • 0033724959 scopus 로고    scopus 로고
    • Multiple sclerosis associated amino acids of polymorphic regions relevant for the HLA antigen binding are confined to HLA-DR2
    • F. Zipp, C. Windemuth, H. Pankow, J. Dichgans, T. Wienker, R. Martin, C. Müller, Multiple sclerosis associated amino acids of polymorphic regions relevant for the HLA antigen binding are confined to HLA-DR2. Hum. Immunol. 61, 1021-1030 (2000).
    • (2000) Hum. Immunol. , vol.61 , pp. 1021-1030
    • Zipp, F.1    Windemuth, C.2    Pankow, H.3    Dichgans, J.4    Wienker, T.5    Martin, R.6    Müller, C.7
  • 18
    • 21544436852 scopus 로고    scopus 로고
    • Ethnic differences in allele frequency of autoimmune-disease-associated SNPs
    • M. Mori, R. Yamada, K. Kobayashi, R. Kawaida, K. Yamamoto, Ethnic differences in allele frequency of autoimmune-disease-associated SNPs. J. Hum. Genet. 50, 264-266 (2005).
    • (2005) J. Hum. Genet. , vol.50 , pp. 264-266
    • Mori, M.1    Yamada, R.2    Kobayashi, K.3    Kawaida, R.4    Yamamoto, K.5
  • 19
    • 84857061990 scopus 로고    scopus 로고
    • HLA and Sjögren's syndrome susceptibility. A meta-analysis of worldwide studies
    • P. Cruz-Tapias, A. Rojas-Villarraga, S. Maier-Moore, J.-M. Anaya, HLA and Sjögren's syndrome susceptibility. A meta-analysis of worldwide studies. Autoimmun. Rev. 11, 281-287 (2012).
    • (2012) Autoimmun. Rev. , vol.11 , pp. 281-287
    • Cruz-Tapias, P.1    Rojas-Villarraga, A.2    Maier-Moore, S.3    Anaya, J.-M.4
  • 20
    • 84922925629 scopus 로고    scopus 로고
    • The amino acid variation within the binding pocket 7 and 9 of HLA-DRB1 molecules are associated with primary Sjögren's syndrome
    • R. Huang, J. Yin, Y. Chen, F. Deng, J. Chen, X. Gao, Z. Liu, X. Yu, J. Zheng, The amino acid variation within the binding pocket 7 and 9 of HLA-DRB1 molecules are associated with primary Sjögren's syndrome. J. Autoimmun. 57, 53-59 (2015).
    • (2015) J. Autoimmun. , vol.57 , pp. 53-59
    • Huang, R.1    Yin, J.2    Chen, Y.3    Deng, F.4    Chen, J.5    Gao, X.6    Liu, Z.7    Yu, X.8    Zheng, J.9
  • 22
    • 84873489284 scopus 로고    scopus 로고
    • TATES: Efficient multivariate genotype-phenotype analysis for genome-wide association studies
    • S. van der Sluis, D. Posthuma, C. V. Dolan, TATES: Efficient multivariate genotype-phenotype analysis for genome-wide association studies. PLOS Genet. 9, e1003235 (2013).
    • (2013) PLOS Genet. , vol.9 , pp. e1003235
    • Van Der Sluis, S.1    Posthuma, D.2    Dolan, C.V.3
  • 26
    • 4143139832 scopus 로고    scopus 로고
    • Absolute risk of childhood-onset type 1 diabetes defined by human leukocyte antigen class II genotype: A population-based study in the United Kingdom
    • A. P. Lambert, K. M. Gillespie, G. Thomson, H. J. Cordell, J. A. Todd, E. A. M. Gale, P. J. Bingley, Absolute risk of childhood-onset type 1 diabetes defined by human leukocyte antigen class II genotype: A population-based study in the United Kingdom. J. Clin. Endocrinol. Metab. 89, 4037-4043 (2004).
    • (2004) J. Clin. Endocrinol. Metab. , vol.89 , pp. 4037-4043
    • Lambert, A.P.1    Gillespie, K.M.2    Thomson, G.3    Cordell, H.J.4    Todd, J.A.5    Gale, E.A.M.6    Bingley, P.J.7
  • 29
    • 0023252262 scopus 로고
    • HLA-DQb gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus
    • J. A. Todd, J. I. Bell, H. O. McDevitt, HLA-DQb gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. Nature 329, 599-604 (1987).
    • (1987) Nature , vol.329 , pp. 599-604
    • Todd, J.A.1    Bell, J.I.2    McDevitt, H.O.3
  • 30
    • 0023802659 scopus 로고
    • Allelic sequence variation of the HLADQ loci: Relationship to serology and to insulin-dependent diabetes susceptibility
    • G. T. Horn, T. L. Bugawan, C. M. Long, H. A. Erlich, Allelic sequence variation of the HLADQ loci: Relationship to serology and to insulin-dependent diabetes susceptibility. Proc. Natl. Acad. Sci. U. S. A. 85, 6012-6016 (1988).
    • (1988) Proc. Natl. Acad. Sci. U. S. A. , vol.85 , pp. 6012-6016
    • Horn, G.T.1    Bugawan, T.L.2    Long, C.M.3    Erlich, H.A.4
  • 36
    • 0034118493 scopus 로고    scopus 로고
    • Inference of population structure using multilocus genotype data
    • J. K. Pritchard, M. Stephens, P. Donnelly, Inference of population structure using multilocus genotype data. Genetics 155, 945-959 (2000).
    • (2000) Genetics , vol.155 , pp. 945-959
    • Pritchard, J.K.1    Stephens, M.2    Donnelly, P.3
  • 37
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • A. L. Price, N. J. Patterson, R. M. Plenge, M. E. Weinblatt, N. A. Shadick, D. Reich, Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904-909 (2006).
    • (2006) Nat. Genet. , vol.38 , pp. 904-909
    • Price, A.L.1    Patterson, N.J.2    Plenge, R.M.3    Weinblatt, M.E.4    Shadick, N.A.5    Reich, D.6
  • 43
    • 0025066941 scopus 로고
    • More powerful procedures for multiple significance testing
    • Y. Hochberg, Y. Benjamini, More powerful procedures for multiple significance testing. Stat. Med. 9, 811-818 (1990).
    • (1990) Stat. Med. , vol.9 , pp. 811-818
    • Hochberg, Y.1    Benjamini, Y.2
  • 44
    • 84906273890 scopus 로고    scopus 로고
    • R PheWAS: Data analysis and plotting tools for phenome-wide association studies in the R environment
    • R. J. Carroll, L. Bastarache, J. C. Denny, R PheWAS: Data analysis and plotting tools for phenome-wide association studies in the R environment. Bioinformatics 30, 2375-2376 (2014).
    • (2014) Bioinformatics , vol.30 , pp. 2375-2376
    • Carroll, R.J.1    Bastarache, L.2    Denny, J.C.3
  • 46
    • 78650373804 scopus 로고    scopus 로고
    • Network medicine: A network-based approach to human disease
    • A.-L. Barabasi, N. Gulbahce, J. Loscalzo, Network medicine: A network-based approach to human disease. Nat. Rev. Genet. 12, 56-68 (2011).
    • (2011) Nat. Rev. Genet. , vol.12 , pp. 56-68
    • Barabasi, A.-L.1    Gulbahce, N.2    Loscalzo, J.3
  • 48
    • 70349580108 scopus 로고    scopus 로고
    • Subtypes of HLA-B27: History and implications in the pathogenesis of ankylosing spondylitis
    • J. D. Reveille, R. M. Maganti, Subtypes of HLA-B27: History and implications in the pathogenesis of ankylosing spondylitis. Adv. Exp. Med. Biol. 649, 159-176 (2009).
    • (2009) Adv. Exp. Med. Biol. , vol.649 , pp. 159-176
    • Reveille, J.D.1    Maganti, R.M.2
  • 53
  • 56
    • 80051684615 scopus 로고    scopus 로고
    • Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
    • S. Sawcer, G. Hellenthal, M. Pirinen, C. C. Spencer, N. A. Patsopoulos, L. Moutsianas, A. Dilthey, Z. Su, C. Freeman, S. E. Hunt, S. Edkins, E. Gray, D. R. Booth, S. C. Potter, A. Goris, G. Band, A. B. Oturai, A. Strange, J. Saarela, C. Bellenguez, B. Fontaine, M. Gillman, B. Hemmer, R. Gwilliam, F. Zipp, A. Jayakumar, R. Martin, S. Leslie, S. Hawkins, E. Giannoulatou, S. D'Alfonso, H. Blackburn, F. Martinelli Boneschi, J. Liddle, H. F. Harbo, M. L. Perez, A. Spurkland, M. J. Waller, M. P. Mycko, M. Ricketts, M. Comabella, N. Hammond, I. Kockum, O. T. McCann, M. Ban, P. Whittaker, A. Kemppinen, P. Weston, C. Hawkins, S. Widaa, J. Zajicek, S. Dronov, N. Robertson, S. J. Bumpstead, L. F. Barcellos, R. Ravindrarajah, R. Abraham, L. Alfredsson, K. Ardlie, C. Aubin, A. Baker, K. Baker, S. E. Baranzini, L. Bergamaschi, R. Bergamaschi, A. Bernstein, A. Berthele, M. Boggild, J. P. Bradfield, D. Brassat, S. A. Broadley, D. Buck, H. Butzkueven, R. Capra, W. M. Carroll, P. Cavalla, E. G. Celius, S. Cepok, R. Chiavacci, F. Clerget-Darpoux, K. Clysters, G. Comi, M. Cossburn, I. Cournu-Rebeix, M. B. Cox, W. Cozen, B. A. Cree, A. H. Cross, D. Cusi, M. J. Daly, E. Davis, P. I. de Bakker, M. Debouverie, B. D'Hooghe, M. K. Dixon, R. Dobosi, B. Dubois, D. Ellinghaus, I. Elovaara, F. Esposito, C. Fontenille, S. Foote, A. Franke, D. Galimberti, A. Ghezzi, J. Glessner, R. Gomez, O. Gout, C. Graham, S. F. Grant, F. R. Guerini, H. Hakonarson, P. Hall, A. Hamsten, H. P. Hartung, R. N. Heard, S. Heath, J. Hobart, M. Hoshi, C. Infante-Duarte, G. Ingram, W. Ingram, T. Islam, M. Jagodic, M. Kabesch, A. G. Kermode, T. J. Kilpatrick, C. Kim, N. Klopp, K. Koivisto, M. Larsson, M. Lathrop, J. S. Lechner-Scott, M. A. Leone, V. Leppa, U. Liljedahl, I. L. Bomfim, R. R. Lincoln, J. Link, J. Liu, A. R. Lorentzen, S. Lupoli, F. Macciardi, T. Mack, M. Marriott, V. Martinelli, D. Mason, J. L. McCauley, F. Mentch, I. L. Mero, T. Mihalova, X. Montalban, J. Mottershead, K. M. Myhr, P. Naldi, W. Ollier, A. Page, A. Palotie, J. Pelletier, L. Piccio, T. Pickersgill, F. Piehl, S. Pobywajlo, H. L. Quach, P. P. Ramsay, M. Reunanen, R. Reynolds, J. D. Rioux, M. Rodegher, S. Roesner, J. P. Rubio, I. M. Ruckert, M. Salvetti, E. Salvi, A. Santaniello, C. A. Schaefer, S. Schreiber, C. Schulze, R. J. Scott, F. Sellebjerg, K. W. Selmaj, D. Sexton, L. Shen, B. Simms-Acuna, S. Skidmore, P. M. Sleiman, C. Smestad, P. S. Sorensen, H. B. Sondergaard, J. Stankovich, R. C. Strange, A. M. Sulonen, E. Sundqvist, A. C. Syvanen, F. Taddeo, B. Taylor, J. M. Blackwell, P. Tienari, E. Bramon, A. Tourbah, M. A. Brown, E. Tronczynska, J. P. Casas, N. Tubridy, A. Corvin, J. Vickery, J. Jankowski, P. Villoslada, H. S. Markus, K. Wang, C. G. Mathew, J. Wason, C. N. Palmer, H. E. Wichmann, R. Plomin, E. Willoughby, A. Rautanen, J. Winkelmann, M. Wittig, R. C. Trembath, J. Yaouanq, A. C. Viswanathan, H. Zhang, N. W. Wood, R. Zuvich, P. Deloukas, C. Langford, A. Duncanson, J. R. Oksenberg, M. A. Pericak-Vance, J. L. Haines, T. Olsson, J. Hillert, A. J. Ivinson, P. L. De Jager, L. Peltonen, G. J. Stewart, D. A. Hafler, S. L. Hauser, G. McVean, P. Donnelly, A. Compston, Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 476, 214-219 (2011).
    • (2011) Nature , vol.476 , pp. 214-219
    • Sawcer, S.1    Hellenthal, G.2    Pirinen, M.3    Spencer, C.C.4    Patsopoulos, N.A.5    Moutsianas, L.6    Dilthey, A.7    Su, Z.8    Freeman, C.9    Hunt, S.E.10    Edkins, S.11    Gray, E.12    Booth, D.R.13    Potter, S.C.14    Goris, A.15    Band, G.16    Oturai, A.B.17    Strange, A.18    Saarela, J.19    Bellenguez, C.20    more..


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