8 results on '"Seldin M.F."'
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2. Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum
- Author
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Rothwell, S., Cooper, R.G., Lundberg, I.E., Gregersen, P.K., Hanna, M.G., Machado, P.M., Herbert, M.K., Pruijn, G.J.M., Lilleker, J.B., Roberts, M, Bowes, J., Seldin, M.F., Vencovsky, J., Danko, K., Limaye, V., Selva-O'Callaghan, A., Platt, H., Molberg, O., Benveniste, O., Radstake, T.R., Doria, A., De Bleecker, J., De Paepe, B., Gieger, C., Meitinger, T., Winkelmann, J., Amos, C.I., Ollier, W.E., Padyukov, L., Lee, A.T van der, Lamb, J.A., Chinoy, H., Rothwell, S., Cooper, R.G., Lundberg, I.E., Gregersen, P.K., Hanna, M.G., Machado, P.M., Herbert, M.K., Pruijn, G.J.M., Lilleker, J.B., Roberts, M, Bowes, J., Seldin, M.F., Vencovsky, J., Danko, K., Limaye, V., Selva-O'Callaghan, A., Platt, H., Molberg, O., Benveniste, O., Radstake, T.R., Doria, A., De Bleecker, J., De Paepe, B., Gieger, C., Meitinger, T., Winkelmann, J., Amos, C.I., Ollier, W.E., Padyukov, L., Lee, A.T van der, Lamb, J.A., and Chinoy, H.
- Abstract
Contains fulltext : 169069.pdf (publisher's version ) (Open Access)
- Published
- 2017
3. Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum
- Author
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Rothwell, S., Cooper, R.G., Lundberg, I.E., Gregersen, P.K., Hanna, M.G., Machado, P.M., Herbert, M.K., Pruijn, G.J.M., Lilleker, J.B., Roberts, M, Bowes, J., Seldin, M.F., Vencovsky, J., Danko, K., Limaye, V., Selva-O'Callaghan, A., Platt, H., Molberg, O., Benveniste, O., Radstake, T.R., Doria, A., De Bleecker, J., De Paepe, B., Gieger, C., Meitinger, T., Winkelmann, J., Amos, C.I., Ollier, W.E., Padyukov, L., Lee, A.T van der, Lamb, J.A., Chinoy, H., Rothwell, S., Cooper, R.G., Lundberg, I.E., Gregersen, P.K., Hanna, M.G., Machado, P.M., Herbert, M.K., Pruijn, G.J.M., Lilleker, J.B., Roberts, M, Bowes, J., Seldin, M.F., Vencovsky, J., Danko, K., Limaye, V., Selva-O'Callaghan, A., Platt, H., Molberg, O., Benveniste, O., Radstake, T.R., Doria, A., De Bleecker, J., De Paepe, B., Gieger, C., Meitinger, T., Winkelmann, J., Amos, C.I., Ollier, W.E., Padyukov, L., Lee, A.T van der, Lamb, J.A., and Chinoy, H.
- Abstract
Contains fulltext : 169069.pdf (publisher's version ) (Open Access)
- Published
- 2017
4. TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits
- Author
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Diogo, D., Bastarache, L., Liao, K.P., Graham, R.R., Fulton, R.S., Greenberg, J.D., Eyre, S., Bowes, J., Cui, J., Lee, A., Pappas, D.A., Kremer, H., Barton, A., Coenen, M.J.H., Franke, B., Kiemeney, L.A.L.M., Mariette, X., Richard-Miceli, C., Canhao, H., Fonseca, J.E., Vries, N. de, Tak, P.P., Crusius, J.B.A., Nurmohamed, M.T., Kurreeman, F., Mikuls, T.R., Okada, Y., Stahl, E.A., Larson, D.E., Deluca, T.L., O'Laughlin, M., Fronick, C.C., Fulton, L.L., Kosoy, R., Ransom, M., Bhangale, T.R., Ortmann, W., Cagan, A., Gainer, V., Karlson, E.W., Kohane, I., Murphy, S.N., Martin, J., Zhernakova, A., Klareskog, L., Padyukov, L., Worthington, J., Mardis, E.R., Seldin, M.F., Gregersen, P.K., Behrens, T., Raychaudhuri, S., Denny, J.C., Plenge, R.M., Diogo, D., Bastarache, L., Liao, K.P., Graham, R.R., Fulton, R.S., Greenberg, J.D., Eyre, S., Bowes, J., Cui, J., Lee, A., Pappas, D.A., Kremer, H., Barton, A., Coenen, M.J.H., Franke, B., Kiemeney, L.A.L.M., Mariette, X., Richard-Miceli, C., Canhao, H., Fonseca, J.E., Vries, N. de, Tak, P.P., Crusius, J.B.A., Nurmohamed, M.T., Kurreeman, F., Mikuls, T.R., Okada, Y., Stahl, E.A., Larson, D.E., Deluca, T.L., O'Laughlin, M., Fronick, C.C., Fulton, L.L., Kosoy, R., Ransom, M., Bhangale, T.R., Ortmann, W., Cagan, A., Gainer, V., Karlson, E.W., Kohane, I., Murphy, S.N., Martin, J., Zhernakova, A., Klareskog, L., Padyukov, L., Worthington, J., Mardis, E.R., Seldin, M.F., Gregersen, P.K., Behrens, T., Raychaudhuri, S., Denny, J.C., and Plenge, R.M.
- Abstract
Contains fulltext : 154077.pdf (publisher's version ) (Open Access), Despite the success of genome-wide association studies (GWAS) in detecting a large number of loci for complex phenotypes such as rheumatoid arthritis (RA) susceptibility, the lack of information on the causal genes leaves important challenges to interpret GWAS results in the context of the disease biology. Here, we genetically fine-map the RA risk locus at 19p13 to define causal variants, and explore the pleiotropic effects of these same variants in other complex traits. First, we combined Immunochip dense genotyping (n = 23,092 case/control samples), Exomechip genotyping (n = 18,409 case/control samples) and targeted exon-sequencing (n = 2,236 case/controls samples) to demonstrate that three protein-coding variants in TYK2 (tyrosine kinase 2) independently protect against RA: P1104A (rs34536443, OR = 0.66, P = 2.3 x 10(-21)), A928V (rs35018800, OR = 0.53, P = 1.2 x 10(-9)), and I684S (rs12720356, OR = 0.86, P = 4.6 x 10(-7)). Second, we show that the same three TYK2 variants protect against systemic lupus erythematosus (SLE, Pomnibus = 6 x 10(-18)), and provide suggestive evidence that two of the TYK2 variants (P1104A and A928V) may also protect against inflammatory bowel disease (IBD; P(omnibus) = 0.005). Finally, in a phenome-wide association study (PheWAS) assessing >500 phenotypes using electronic medical records (EMR) in >29,000 subjects, we found no convincing evidence for association of P1104A and A928V with complex phenotypes other than autoimmune diseases such as RA, SLE and IBD. Together, our results demonstrate the role of TYK2 in the pathogenesis of RA, SLE and IBD, and provide supporting evidence for TYK2 as a promising drug target for the treatment of autoimmune diseases.
- Published
- 2015
5. TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits
- Author
-
Diogo, D., Bastarache, L., Liao, K.P., Graham, R.R., Fulton, R.S., Greenberg, J.D., Eyre, S., Bowes, J., Cui, J., Lee, A., Pappas, D.A., Kremer, H., Barton, A., Coenen, M.J.H., Franke, B., Kiemeney, L.A.L.M., Mariette, X., Richard-Miceli, C., Canhao, H., Fonseca, J.E., Vries, N. de, Tak, P.P., Crusius, J.B.A., Nurmohamed, M.T., Kurreeman, F., Mikuls, T.R., Okada, Y., Stahl, E.A., Larson, D.E., Deluca, T.L., O'Laughlin, M., Fronick, C.C., Fulton, L.L., Kosoy, R., Ransom, M., Bhangale, T.R., Ortmann, W., Cagan, A., Gainer, V., Karlson, E.W., Kohane, I., Murphy, S.N., Martin, J., Zhernakova, A., Klareskog, L., Padyukov, L., Worthington, J., Mardis, E.R., Seldin, M.F., Gregersen, P.K., Behrens, T., Raychaudhuri, S., Denny, J.C., Plenge, R.M., Diogo, D., Bastarache, L., Liao, K.P., Graham, R.R., Fulton, R.S., Greenberg, J.D., Eyre, S., Bowes, J., Cui, J., Lee, A., Pappas, D.A., Kremer, H., Barton, A., Coenen, M.J.H., Franke, B., Kiemeney, L.A.L.M., Mariette, X., Richard-Miceli, C., Canhao, H., Fonseca, J.E., Vries, N. de, Tak, P.P., Crusius, J.B.A., Nurmohamed, M.T., Kurreeman, F., Mikuls, T.R., Okada, Y., Stahl, E.A., Larson, D.E., Deluca, T.L., O'Laughlin, M., Fronick, C.C., Fulton, L.L., Kosoy, R., Ransom, M., Bhangale, T.R., Ortmann, W., Cagan, A., Gainer, V., Karlson, E.W., Kohane, I., Murphy, S.N., Martin, J., Zhernakova, A., Klareskog, L., Padyukov, L., Worthington, J., Mardis, E.R., Seldin, M.F., Gregersen, P.K., Behrens, T., Raychaudhuri, S., Denny, J.C., and Plenge, R.M.
- Abstract
Contains fulltext : 154077.pdf (publisher's version ) (Open Access), Despite the success of genome-wide association studies (GWAS) in detecting a large number of loci for complex phenotypes such as rheumatoid arthritis (RA) susceptibility, the lack of information on the causal genes leaves important challenges to interpret GWAS results in the context of the disease biology. Here, we genetically fine-map the RA risk locus at 19p13 to define causal variants, and explore the pleiotropic effects of these same variants in other complex traits. First, we combined Immunochip dense genotyping (n = 23,092 case/control samples), Exomechip genotyping (n = 18,409 case/control samples) and targeted exon-sequencing (n = 2,236 case/controls samples) to demonstrate that three protein-coding variants in TYK2 (tyrosine kinase 2) independently protect against RA: P1104A (rs34536443, OR = 0.66, P = 2.3 x 10(-21)), A928V (rs35018800, OR = 0.53, P = 1.2 x 10(-9)), and I684S (rs12720356, OR = 0.86, P = 4.6 x 10(-7)). Second, we show that the same three TYK2 variants protect against systemic lupus erythematosus (SLE, Pomnibus = 6 x 10(-18)), and provide suggestive evidence that two of the TYK2 variants (P1104A and A928V) may also protect against inflammatory bowel disease (IBD; P(omnibus) = 0.005). Finally, in a phenome-wide association study (PheWAS) assessing >500 phenotypes using electronic medical records (EMR) in >29,000 subjects, we found no convincing evidence for association of P1104A and A928V with complex phenotypes other than autoimmune diseases such as RA, SLE and IBD. Together, our results demonstrate the role of TYK2 in the pathogenesis of RA, SLE and IBD, and provide supporting evidence for TYK2 as a promising drug target for the treatment of autoimmune diseases.
- Published
- 2015
6. TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits
- Author
-
Diogo, D., Bastarache, L., Liao, K.P., Graham, R.R., Fulton, R.S., Greenberg, J.D., Eyre, S., Bowes, J., Cui, J., Lee, A., Pappas, D.A., Kremer, H., Barton, A., Coenen, M.J.H., Franke, B., Kiemeney, L.A.L.M., Mariette, X., Richard-Miceli, C., Canhao, H., Fonseca, J.E., Vries, N. de, Tak, P.P., Crusius, J.B.A., Nurmohamed, M.T., Kurreeman, F., Mikuls, T.R., Okada, Y., Stahl, E.A., Larson, D.E., Deluca, T.L., O'Laughlin, M., Fronick, C.C., Fulton, L.L., Kosoy, R., Ransom, M., Bhangale, T.R., Ortmann, W., Cagan, A., Gainer, V., Karlson, E.W., Kohane, I., Murphy, S.N., Martin, J., Zhernakova, A., Klareskog, L., Padyukov, L., Worthington, J., Mardis, E.R., Seldin, M.F., Gregersen, P.K., Behrens, T., Raychaudhuri, S., Denny, J.C., Plenge, R.M., Diogo, D., Bastarache, L., Liao, K.P., Graham, R.R., Fulton, R.S., Greenberg, J.D., Eyre, S., Bowes, J., Cui, J., Lee, A., Pappas, D.A., Kremer, H., Barton, A., Coenen, M.J.H., Franke, B., Kiemeney, L.A.L.M., Mariette, X., Richard-Miceli, C., Canhao, H., Fonseca, J.E., Vries, N. de, Tak, P.P., Crusius, J.B.A., Nurmohamed, M.T., Kurreeman, F., Mikuls, T.R., Okada, Y., Stahl, E.A., Larson, D.E., Deluca, T.L., O'Laughlin, M., Fronick, C.C., Fulton, L.L., Kosoy, R., Ransom, M., Bhangale, T.R., Ortmann, W., Cagan, A., Gainer, V., Karlson, E.W., Kohane, I., Murphy, S.N., Martin, J., Zhernakova, A., Klareskog, L., Padyukov, L., Worthington, J., Mardis, E.R., Seldin, M.F., Gregersen, P.K., Behrens, T., Raychaudhuri, S., Denny, J.C., and Plenge, R.M.
- Abstract
Contains fulltext : 154077.pdf (publisher's version ) (Open Access), Despite the success of genome-wide association studies (GWAS) in detecting a large number of loci for complex phenotypes such as rheumatoid arthritis (RA) susceptibility, the lack of information on the causal genes leaves important challenges to interpret GWAS results in the context of the disease biology. Here, we genetically fine-map the RA risk locus at 19p13 to define causal variants, and explore the pleiotropic effects of these same variants in other complex traits. First, we combined Immunochip dense genotyping (n = 23,092 case/control samples), Exomechip genotyping (n = 18,409 case/control samples) and targeted exon-sequencing (n = 2,236 case/controls samples) to demonstrate that three protein-coding variants in TYK2 (tyrosine kinase 2) independently protect against RA: P1104A (rs34536443, OR = 0.66, P = 2.3 x 10(-21)), A928V (rs35018800, OR = 0.53, P = 1.2 x 10(-9)), and I684S (rs12720356, OR = 0.86, P = 4.6 x 10(-7)). Second, we show that the same three TYK2 variants protect against systemic lupus erythematosus (SLE, Pomnibus = 6 x 10(-18)), and provide suggestive evidence that two of the TYK2 variants (P1104A and A928V) may also protect against inflammatory bowel disease (IBD; P(omnibus) = 0.005). Finally, in a phenome-wide association study (PheWAS) assessing >500 phenotypes using electronic medical records (EMR) in >29,000 subjects, we found no convincing evidence for association of P1104A and A928V with complex phenotypes other than autoimmune diseases such as RA, SLE and IBD. Together, our results demonstrate the role of TYK2 in the pathogenesis of RA, SLE and IBD, and provide supporting evidence for TYK2 as a promising drug target for the treatment of autoimmune diseases.
- Published
- 2015
7. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
- Author
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Stahl, E.A., Raychaudhuri, S., Remmers, E.F., Xie, G., Eyre, S., Thomson, B.P., Li, Y., Kurreeman, F.A., Zhernakova, A., Hinks, A., Guiducci, C., Chen, R., Alfredsson, L., Amos, C.I., Ardlie, K.G., Barton, A., Bowes, J., Brouwer, E., Burtt, N.P., Catanese, J.J., Coblyn, J., Coenen, M.J.H., Costenbader, K.H., Criswell, L.A., Crusius, J.B., Cui, J., Bakker, P.I. de, Jager, P.L., Ding, B., Emery, P., Flynn, E., Harrison, P., Hocking, L.J., Huizinga, T.W.J., Kastner, D.L., Ke, X., Lee, A.T., Liu, X., Martin, P., Morgan, A.W., Padyukov, L., Posthumus, M.D., Radstake, T.R.D.J., Reid, D.M., Seielstad, M., Seldin, M.F., Shadick, N.A., Steer, S., Tak, P.P., Thomson, W., Helm-van Mil, A.H. van der, Horst-Bruinsma, I.E., Schoot, C.E. van der, Riel, P.L.C.M. van, Weinblatt, M.E., Wilson, A.G., Wolbink, G.J., Wordsworth, B.P., Wijmenga, C., Karlson, E.W., Toes, R.E., Vries, N. de, Begovich, A.B., Worthington, J., Siminovitch, K.A., Gregersen, P.K., Klareskog, L., Plenge, R.M., Stahl, E.A., Raychaudhuri, S., Remmers, E.F., Xie, G., Eyre, S., Thomson, B.P., Li, Y., Kurreeman, F.A., Zhernakova, A., Hinks, A., Guiducci, C., Chen, R., Alfredsson, L., Amos, C.I., Ardlie, K.G., Barton, A., Bowes, J., Brouwer, E., Burtt, N.P., Catanese, J.J., Coblyn, J., Coenen, M.J.H., Costenbader, K.H., Criswell, L.A., Crusius, J.B., Cui, J., Bakker, P.I. de, Jager, P.L., Ding, B., Emery, P., Flynn, E., Harrison, P., Hocking, L.J., Huizinga, T.W.J., Kastner, D.L., Ke, X., Lee, A.T., Liu, X., Martin, P., Morgan, A.W., Padyukov, L., Posthumus, M.D., Radstake, T.R.D.J., Reid, D.M., Seielstad, M., Seldin, M.F., Shadick, N.A., Steer, S., Tak, P.P., Thomson, W., Helm-van Mil, A.H. van der, Horst-Bruinsma, I.E., Schoot, C.E. van der, Riel, P.L.C.M. van, Weinblatt, M.E., Wilson, A.G., Wolbink, G.J., Wordsworth, B.P., Wijmenga, C., Karlson, E.W., Toes, R.E., Vries, N. de, Begovich, A.B., Worthington, J., Siminovitch, K.A., Gregersen, P.K., Klareskog, L., and Plenge, R.M.
- Abstract
01 juni 2010, Contains fulltext : 88498.pdf (publisher's version ) (Closed access), To identify new genetic risk factors for rheumatoid arthritis, we conducted a genome-wide association study meta-analysis of 5,539 autoantibody-positive individuals with rheumatoid arthritis (cases) and 20,169 controls of European descent, followed by replication in an independent set of 6,768 rheumatoid arthritis cases and 8,806 controls. Of 34 SNPs selected for replication, 7 new rheumatoid arthritis risk alleles were identified at genome-wide significance (P < 5 x 10(-8)) in an analysis of all 41,282 samples. The associated SNPs are near genes of known immune function, including IL6ST, SPRED2, RBPJ, CCR6, IRF5 and PXK. We also refined associations at two established rheumatoid arthritis risk loci (IL2RA and CCL21) and confirmed the association at AFF3. These new associations bring the total number of confirmed rheumatoid arthritis risk loci to 31 among individuals of European ancestry. An additional 11 SNPs replicated at P < 0.05, many of which are validated autoimmune risk alleles, suggesting that most represent genuine rheumatoid arthritis risk alleles.
- Published
- 2010
8. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
- Author
-
Stahl, E.A., Raychaudhuri, S., Remmers, E.F., Xie, G., Eyre, S., Thomson, B.P., Li, Y., Kurreeman, F.A., Zhernakova, A., Hinks, A., Guiducci, C., Chen, R., Alfredsson, L., Amos, C.I., Ardlie, K.G., Barton, A., Bowes, J., Brouwer, E., Burtt, N.P., Catanese, J.J., Coblyn, J., Coenen, M.J.H., Costenbader, K.H., Criswell, L.A., Crusius, J.B., Cui, J., Bakker, P.I. de, Jager, P.L., Ding, B., Emery, P., Flynn, E., Harrison, P., Hocking, L.J., Huizinga, T.W.J., Kastner, D.L., Ke, X., Lee, A.T., Liu, X., Martin, P., Morgan, A.W., Padyukov, L., Posthumus, M.D., Radstake, T.R.D.J., Reid, D.M., Seielstad, M., Seldin, M.F., Shadick, N.A., Steer, S., Tak, P.P., Thomson, W., Helm-van Mil, A.H. van der, Horst-Bruinsma, I.E. van der, Schoot, C.E. van der, Riel, P.L.C.M. van, Weinblatt, M.E., Wilson, A.G., Wolbink, G.J., Wordsworth, B.P., Wijmenga, C., Karlson, E.W., Toes, R.E., Vries, N. de, Begovich, A.B., Worthington, J., Siminovitch, K.A., Gregersen, P.K., Klareskog, L., Plenge, R.M., Stahl, E.A., Raychaudhuri, S., Remmers, E.F., Xie, G., Eyre, S., Thomson, B.P., Li, Y., Kurreeman, F.A., Zhernakova, A., Hinks, A., Guiducci, C., Chen, R., Alfredsson, L., Amos, C.I., Ardlie, K.G., Barton, A., Bowes, J., Brouwer, E., Burtt, N.P., Catanese, J.J., Coblyn, J., Coenen, M.J.H., Costenbader, K.H., Criswell, L.A., Crusius, J.B., Cui, J., Bakker, P.I. de, Jager, P.L., Ding, B., Emery, P., Flynn, E., Harrison, P., Hocking, L.J., Huizinga, T.W.J., Kastner, D.L., Ke, X., Lee, A.T., Liu, X., Martin, P., Morgan, A.W., Padyukov, L., Posthumus, M.D., Radstake, T.R.D.J., Reid, D.M., Seielstad, M., Seldin, M.F., Shadick, N.A., Steer, S., Tak, P.P., Thomson, W., Helm-van Mil, A.H. van der, Horst-Bruinsma, I.E. van der, Schoot, C.E. van der, Riel, P.L.C.M. van, Weinblatt, M.E., Wilson, A.G., Wolbink, G.J., Wordsworth, B.P., Wijmenga, C., Karlson, E.W., Toes, R.E., Vries, N. de, Begovich, A.B., Worthington, J., Siminovitch, K.A., Gregersen, P.K., Klareskog, L., and Plenge, R.M.
- Abstract
01 juni 2010, Contains fulltext : 88498.pdf (publisher's version ) (Closed access), To identify new genetic risk factors for rheumatoid arthritis, we conducted a genome-wide association study meta-analysis of 5,539 autoantibody-positive individuals with rheumatoid arthritis (cases) and 20,169 controls of European descent, followed by replication in an independent set of 6,768 rheumatoid arthritis cases and 8,806 controls. Of 34 SNPs selected for replication, 7 new rheumatoid arthritis risk alleles were identified at genome-wide significance (P < 5 x 10(-8)) in an analysis of all 41,282 samples. The associated SNPs are near genes of known immune function, including IL6ST, SPRED2, RBPJ, CCR6, IRF5 and PXK. We also refined associations at two established rheumatoid arthritis risk loci (IL2RA and CCL21) and confirmed the association at AFF3. These new associations bring the total number of confirmed rheumatoid arthritis risk loci to 31 among individuals of European ancestry. An additional 11 SNPs replicated at P < 0.05, many of which are validated autoimmune risk alleles, suggesting that most represent genuine rheumatoid arthritis risk alleles.
- Published
- 2010
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