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1. The Ro60 autoantigen binds endogenous retroelements and regulates inflammatory gene expression

Author

Hung, T, Pratt, GA, Sundararaman, B, Townsend, MJ, Chaivorapol, C, Bhangale, T, Graham, RR, Ortmann, W, Criswell, LA, Yeo, GW, and Behrens, TW

Subjects
Biomedical and Clinical Sciences, Immunology, Genetics, Autoimmune Disease, Lupus, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Alu Elements, Antigen-Antibody Complex, Autoantibodies, Autoantigens, Cell Line, Gene Expression Regulation, Humans, Inflammation, Interferon Type I, Lupus Erythematosus, Systemic, RNA, RNA, Small Cytoplasmic, Ribonucleoproteins, Sjogren's Syndrome, Transcription, Genetic, General Science & Technology
Abstract

Autoantibodies target the RNA binding protein Ro60 in systemic lupus erythematosus (SLE) and Sjögren's syndrome. However, it is unclear whether Ro60 and its associated RNAs contribute to disease pathogenesis. We catalogued the Ro60-associated RNAs in human cell lines and found that among other RNAs, Ro60 bound an RNA motif derived from endogenous Alu retroelements. Alu transcripts were induced by type I interferon and stimulated proinflammatory cytokine secretion by human peripheral blood cells. Ro60 deletion resulted in enhanced expression of Alu RNAs and interferon-regulated genes. Anti-Ro60-positive SLE immune complexes contained Alu RNAs, and Alu transcripts were up-regulated in SLE whole blood samples relative to controls. These findings establish a link among the lupus autoantigen Ro60, Alu retroelements, and type I interferon.

Published
2015

2. A Novel Approach for Affine Point Pattern Matching

Author

Suesse, H., Ortmann, W., Voss, K., Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Dough, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Campilho, Aurélio, editor, and Kamel, Mohamed, editor

Published
2006
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15. National scientific medical meeting 1997 abstracts

Author

Willison, H. J., Lastovica, A. J., Prendergast, M. M., Moran, A. P., Walsh, C., Flitcroft, I., Eustace, P., McMahon, C., Smith, J., Smith, O. P., Lakshmandass, G., Taylor, M. R. H., Holland, C. V., Cox, D., Good, B., Kearns, G. M., Gaffney, P., Shark, K., Frauenshuh, M., Ortmann, W., Messner, R., King, R., Rich, S., Behrens, T., Mahmud, N., Molloy, A., McPartlin, J., Scott, J. M., Weir, D. G., Walsh, K. M., Thorburn, D., Mills, P., Morris, A. J., Good, T., Cameron, S., McCruden, E. A. B., Bennett, M. W., O’Connell, J., Brady, C., Roche, D., Collins, J. K., Shanahan, F., O’Sullivant, G. C., Henry, M., Koston, S., McMahon, K., MacNee, W., FitzGerald, M. X., O’Connor, C. M., McGonagle, D., Gibbon, W., O’Connor, P., Emery, P., Murphy, M., Watson, R., Casey, E., Naidu, E., Murphy, M., Watson, R., Barnes, L., McCann, S., Murphy, M., Watson, R., Barnes, L., Sweeney, E., Barrett, E. J., Graham, H., Cunningham, R. T., Johnston, C. F., Curry, W. J., Buchanan, K. D., Courtney, C. H., McAllister, A. S., McCance, D. R., Hadden, D. R., Bell, P. M., Leslie, H., Sheridan, B., Atkinson, A. B., Kilbane, M. T., Smith, D. F., Murray, M. J., Shering, S. G., McDermott, E. W. M., O’Higgins, N. J., Smyth, P. P. A., McEneny, J., Trimble, E. R., Young, I. S., Sharpe, P., Mercer, C., McMaster, D., Young, I. S., Evans, A. E., Young, I. S., Cundick, J., Hasselwander, O., McMaster, D., McGeough, J., Savage, D., Maxwell, A. P., Evans, A. E., Kee, F., Larkin, C. J., Watson, R. G. P., Johnston, C., Ardill, J. E. S., Buchanan, K. D., McNamara, D. A., Walsh, T. N., Bouchier-Hayes, D. J., Madden, C., Timon, C., Gardiner, N., Lawler, M., O’Riordan, J., Duggan, C., McCann, S. R., Gowing, H., Braakman, E., Lawler, M., Byrne, C., Martens, A. C. M., Hagenbeek, A., McCann, S. R., Kinsella, N., Cusack, S., Lawler, M., Baker, H., White, B., Smith, O. P., Lawler, M., Gardiner, N., Molloy, K., Gowing, H., Wogan, A., McCann, S. R., McElwaine, S., Lawler, M., Hollywood, D., McCann, S. R., Mcmahon, C., Merry, C., Ryan, M., Smith, O., Mulcahy, F. M., Murphy, C., Briones, J., Gardiner, N., McCann, S. R., Lawler, M., White, B., Lawler, M., Cusack, S., Kinsella, N., Smith, O. P., Lavin, P., McCaffrey, M., Gillen, P., White, B., Smith, O. P., Thompson, L., Lalloz, M., Layton, M., Barnes, L., Corish, C., Kennedy, N. P., Flood, P., Mulligan, S., McNamara, E., Kennedy, N. P., Flood, P., Mathias, P. M., Ball, E., Duiculescu, D., Calistru, P., O’Gorman, N., Kennedy, N. P., Abuzakouk, M., Feighery, C., Brannigan, M., Pender, S., Keeling, F., Varghese, J., Lee, M., Colreavy, M., Gaffney, R., Hone, S., Herzig, M., Walsh, M., Dolan, C., Wogan, A., Lawler, M., McCann, S. R., Hollywood, D., Donovan, D., Harmey, J., Bouchier-Hayes, D. J., Haverty, A., Wang, J. H., Harmey, J. H., Redmond, H. P., Bouchier-Hayes, D. J., McGreal, G., Shering, S. G., Moriarty, M. J., Shortt, A., Kilbane, M. T., Smith, D. F., McDermott, E. W. M., O’Higgins, N. J., Smyth, P. P. A., McNamara, D. A., Harmey, J., Wang, J. H., Donovan, D., Walsh, T. N., Bouchier-Hayes, D. J., Kay, E., Pidgeon, G., Harmey, J., McNamara, D. A., Bouchier-Hayes, D. J., Dunne, P., Lambkin, H., Russell, J. M., O’Neill, A. J., Dunne, B. M., O’Donovan, M., Lawler, M., Gaffney, E. F., Gillan, J. E., Cotter, T. G., Horan, J., Jones, D., Biswas, S. K., Mulkerrin, E. C., Brady, H., O’Donnell, J., Neary, J., Healy, E., Watson, A., Keogh, B., Ryan, M., Cassidy, C., Ward, S., Stokes, E., Keoghan, F., Barrett, A., O’Connell, P., Ryall, N., O’Connell, P. A., Jenkinson, A., O’Brien, T., O’Connell, P. G., Harrison, R., Barrett, T., Bailey, D. M. D., Butler, A., Barton, D. E., Byrne, C., McElwaine, S., McCann, S. R., Lawler, M., Cusack, S., Lawler, M., White, B., Smith, O. P., Daly, G., Gill, M., Heron, S., Hawi, Z., Fitzgerald, M., Hawi, Z., Mynett-Johnson, L., Shiels, D., Kendler, K., McKeon, P., Gill, M., Straub, R., Walsh, D., Ryan, F., Barton, D. E., McCabe, D., Murphy, R., Segurado, R., Mulcahy, T., Larson, B., Comerford, C., O’Connell, R., O’Mahony, E., Gill, M., Donnelly, J., Minahan, F., O’Neill, D., Farrell, Z., O’Neill, D., Jones, D., Horan, J., Glynn, C., Biswas, S. K., Mulkerrin, E., Brady, H., Lennox, S. E., Murphy, A., Rea, I. M., McNulty, H., McMeel, C., O’Neill, D., McEvoy, H., Freaney, R., McKenna, M. J., Crowe, M., Keating, D., Colreavy, M., Hone, S., Norman, G., Widda, S., Viani, L., Galvin, Nolan, C. M., Hardiman, O., Hardiman, O., Brett, F., Droogan, O., Gallagher, P., Harmey, M., King, M., Murphy, J., Perryrnan, R., Sukumaran, S., Walsh, J., Farrell, M. A., Hughes, G., Cunningham, C., Walsh, J. B., Coakley, D., O’Neill, D., Hurson, M., Flood, P., McMonagle, P., Hardiman, O., Ryan, F., O’Sullivan, S., Merry, C., Dodd, P., Redmond, J., Mulcahy, F. M., Browne, R., Keating, S., O’Connor, J., Cassidy, B. P., Smyth, R., Sheppard, N. P., Cullivan, R., Crown, J., Walsh, N., Denihan, A., Bruce, I., Radic, A., Coakley, D., Lawlor, B. A., Bridges, P. K., O’Doherty, M., Farrington, A., O’Doherty, M., Farragher, B., Fahy, S., Kelly, R., Carey, T., Owens, J., Gallagher, O., Sloan, D., McDonough, C., Casey, P., Horgan, A., Elneihum, A., O’Neill, C., McMonagle, T., Quinn, J., Meagher, D., Murphy, P., Kinsella, A., Mullaney, J., Waddington, J. L., Rooney, S., Rooney, S., Bamford, L., Sloan, D., O’Connor, J. J., Franklin, R., O’Brien, K., Fitzpatrick, G., Laffey, J. G., Boylan, J. F., Laffey, J., Coleman, M., Boylan, J., Laffey, J. G., McShane, A. J., Boylan, J. F., Loughrey, J. P. R., Gardiner, J., McGinley, J., Leonard, I., Carey, M., Neligan, P., O’Rourke, J., Cunningham, A., Fennessy, F., Kelly, C., Bouchier-Hayes, D., Fennessy, F., Wang, J. H., Kelly, C., Bouchier-Hayes, D., Fennessy, F., Wang, J. H., Kelly, C., Bouchier-Hayes, D. J., Kellett, J., Laffey, J., Murphy, D., Regan, J., O’Keeffe, D., Mahmud, A., Hemeryck, L., Feely, J., Mahmud, A., Hemeryck, L., Hall, M., Feely, J., Menown, I. B. A., Mathew, T. P., Nesbitt, G. S., Syme, M., Young, I. S., Adgey, A. A. J., Menown, I. B. A., Turtle, F., Allen, J., Anderson, J., Adgey, A. A. J., O’Hanlon, R., Codd, M. B., Walkin, S., McCann, H. A., Sugrue, D. D., Rasheed, A. M., Chen, G., Kelly, C., Bouchier-Hayes, D. J., Leahy, A., Rasheed, A. M., Kay, E., Jina, S., Bouchier-Hayes, D. J., Leahy, A., McDowell, I., Rasheed, A. M., Wang, J. H., Wo, Q., Kelly, C., Bouchier-Hayes, D. J., Leahy, A., Shuhaibar, M. N., McGovern, E., Turtle, F., Menown, I. B. A., Manoharan, G., Kirkpatrick, R., Campbell, N. P. S., Walkin, S., Codd, M. B., O’Hanlon, R., McCarthy, C., McCann, H. A., Sugrue, D. D., Wen, Y., Killalea, S., Hall, M., Hemeryck, L., Feely, J., Fahy, C. J., Griffith, A., McGinley, J., McCabe, D., Fraser, A., Casey, E., Ryan, T., Murphy, R., Browne, M., Fenton, J., Hughes, J., Timon, C. I., Fenton, J., Curran, A., Smyth, D., Viani, L., Walsh, M., Hughes, J. P., Fenton, J., Lee, P., Kelly, A., Timon, C. I., Hughes, J. P., Fenton, J., Shine, N., Blayney, A., McShane, D. P., Timon, C. I., Hussey, J., Howlett, M., Langton, A., McEvoy, A., Slevin, J., Fitzpatrick, C., Turner, M. J., Enright, F., Goggin, N., Costigan, C., Duff, D., Osizlok, P., Wood, F., Watson, R., Fitzsimons, R. B., Flanagan, N., Enright, F., Barnes, L., Watson, R., Molloy, E., Griffin, E., Deasy, P. F., Sheridan, M., White, M. J., Moore, R., Gray, A., Hill, J., Glasgow, J. F. T., Middleton, B., Slattery, D., Donoghue, V., McMahon, A., Murphy, J., Slattery, D., McCarthy, A., Oslislok, P., Duff, D., Colreavy, M., Keogh, I., Hone, S., Walsh, M., Henry, M., Koston, S., McMahon, K., MacNee, W., FitzGerald, M. X., O’Connor, C. M., Russell, K. J., Henry, M., Fitzgerald, M. X., O’Connor, C. M., Kavanagh, P. V., McNamara, S. M., Feely, J., Barry, M., O’Brien, J. E., McCormick, P., Molony, C., Doyle, R. M., Walsh, J. B., Coakley, D., Codd, M. B., O’Connell, P. R., Dowey, L. C., McGlynn, H., Thurnham, D. I., Elborn, S. J., Flynn, L., Carton, J., Byrne, B., O’Farrelly, C., Kelehan, P., O’Herlihy, C., O’Hara, A. M., Moran, A. P., Orren, A., Fernie, B. A., Merry, C., Clarke, S., Courtney, G., de Gascun, C., Mulcahy, F. M., Merry, C., Ryan, M., Barry, M., Mulcahy, F. M., Merry, C., Ryan, M., Barry, M., Mulcahy, F. M., Byrne, M., Moylett, E., Murphy, H., Butler, K., Nourse, C., Thaker, H., Barry, C., Russell, J., Sheehan, G., Boyle, B., Hone, R., Conboy, B., Butler, C., Moris, D., Cormican, M., Flynn, J., McCormack, O., Corbally, N., Murray, A., Kirrane, S., O’Keane, C., Hone, R., Lynch, S. M., Cryan, B., Whyte, D., Morris, D., Butler, C., Cormican, M., Flynn, J., Corbett-Feeney, G., Murray, A., Corbally, N., Hone, R., Mackle, T., Colreavy, M., Perkins, J., Saidlear, C., Young, A., Eustace, P., Wrigley, M., Clifford, J., Waddington, J. L., Tighe, O., Croke, D. T., Drago, J., Sibley, D. R., Feely, J., Kelly, A., Carvalho, M., Hennessy, M., Kelly, M., Feely, J., Hughes, C., Hanlon, M., Feely, J., Sabra, K., Keane, T., Egan, D., Ryan, M., Maerry, C., Ryan, M., Barry, M., Mulcahy, F. M., Maerry, C., Ryan, M., Barry, M., Mulcahy, F. M., Sharma, S. C., Williams, D., Kelly, A., Carvalho, M., Feely, J., Williams, D., Kelly, A., Carvalho, M., Feely, J., Codd, M. B., Mahon, N. G., McCann, H. A., Sugrue, D. D., Sayers, G. M., Johnson, Z., McNamara, S. M., Kavanagh, P. V., and Feely, J.

Published
1998
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19. 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

20. Genetics of rheumatoid arthritis contributes to biology and drug discovery

Author

Okada, Y., Wu, D., Trynka, G., Raj, T., Terao, C., Ikari, K., Kochi, Y., Ohmura, K., Suzuki, A., Yoshida, S., Graham, R.R., Manoharan, A., Ortmann, W., Bhangale, T., Denny, J.C., Carroll, R.J., Eyler, A.E., Greenberg, J.D., Kremer, J.M, Pappas, D.A., Jiang, L., Yin, J., Ye, L, Su, D.F., Yang, J., Xie, G., Keystone, E., Westra, H.J., Esko, T., Metspalu, A., Zhou, X., Gupta, N., Mirel, D., Stahl, E.A., Diogo, D., Cui, J., Liao, K., Guo, M.H., Myouzen, K., Kawaguchi, T., Coenen, M.J.H., Riel, P.L.C.M. van, Laar, M.A. van der, Guchelaar (LUMC), H.J., Huizinga, T.W.J., Dieude, P., Mariette, X., Bridges, S.L., Jr., Zhernakova, A., Toes, R.E., Tak, P.P., Miceli-Richard, C., Bang, S.Y., Lee, H.S., Martin, J., Gonzalez-Gay, M.A., Rodriguez-Rodriguez, L., Rantapaa-Dahlqvist, S., Arlestig, L., Choi, H.K., Kamatani, Y., Galan, P., Lathrop, M., Eyre, S., Bowes, J., Barton, A., Vries, N. de, Moreland, L.W., Criswell, L.A., Karlson, E.W., Taniguchi, A., Yamada, R., Kubo, M., Liu, J.S., Bae, S.C., Worthington, J., Padyukov, L., Klareskog, L., Gregersen, P.K., Raychaudhuri, S., Stranger, B.E., Jager, P.L. De, Franke, L., Visscher, P.M., Brown, M.A., Yamanaka, H., Mimori, T., Takahashi, A., Xu, H., Behrens, T.W., Siminovitch, K.A., Momohara, S., Matsuda, F., Yamamoto, K., Plenge, R.M., et al., Okada, Y., Wu, D., Trynka, G., Raj, T., Terao, C., Ikari, K., Kochi, Y., Ohmura, K., Suzuki, A., Yoshida, S., Graham, R.R., Manoharan, A., Ortmann, W., Bhangale, T., Denny, J.C., Carroll, R.J., Eyler, A.E., Greenberg, J.D., Kremer, J.M, Pappas, D.A., Jiang, L., Yin, J., Ye, L, Su, D.F., Yang, J., Xie, G., Keystone, E., Westra, H.J., Esko, T., Metspalu, A., Zhou, X., Gupta, N., Mirel, D., Stahl, E.A., Diogo, D., Cui, J., Liao, K., Guo, M.H., Myouzen, K., Kawaguchi, T., Coenen, M.J.H., Riel, P.L.C.M. van, Laar, M.A. van der, Guchelaar (LUMC), H.J., Huizinga, T.W.J., Dieude, P., Mariette, X., Bridges, S.L., Jr., Zhernakova, A., Toes, R.E., Tak, P.P., Miceli-Richard, C., Bang, S.Y., Lee, H.S., Martin, J., Gonzalez-Gay, M.A., Rodriguez-Rodriguez, L., Rantapaa-Dahlqvist, S., Arlestig, L., Choi, H.K., Kamatani, Y., Galan, P., Lathrop, M., Eyre, S., Bowes, J., Barton, A., Vries, N. de, Moreland, L.W., Criswell, L.A., Karlson, E.W., Taniguchi, A., Yamada, R., Kubo, M., Liu, J.S., Bae, S.C., Worthington, J., Padyukov, L., Klareskog, L., Gregersen, P.K., Raychaudhuri, S., Stranger, B.E., Jager, P.L. De, Franke, L., Visscher, P.M., Brown, M.A., Yamanaka, H., Mimori, T., Takahashi, A., Xu, H., Behrens, T.W., Siminovitch, K.A., Momohara, S., Matsuda, F., Yamamoto, K., Plenge, R.M., and et al.

Abstract

Item does not contain fulltext, A major challenge in human genetics is to devise a systematic strategy to integrate disease-associated variants with diverse genomic and biological data sets to provide insight into disease pathogenesis and guide drug discovery for complex traits such as rheumatoid arthritis (RA). Here we performed a genome-wide association study meta-analysis in a total of >100,000 subjects of European and Asian ancestries (29,880 RA cases and 73,758 controls), by evaluating approximately 10 million single-nucleotide polymorphisms. We discovered 42 novel RA risk loci at a genome-wide level of significance, bringing the total to 101 (refs 2 - 4). We devised an in silico pipeline using established bioinformatics methods based on functional annotation, cis-acting expression quantitative trait loci and pathway analyses--as well as novel methods based on genetic overlap with human primary immunodeficiency, haematological cancer somatic mutations and knockout mouse phenotypes--to identify 98 biological candidate genes at these 101 risk loci. We demonstrate that these genes are the targets of approved therapies for RA, and further suggest that drugs approved for other indications may be repurposed for the treatment of RA. Together, this comprehensive genetic study sheds light on fundamental genes, pathways and cell types that contribute to RA pathogenesis, and provides empirical evidence that the genetics of RA can provide important information for drug discovery.

Published
2014

24. OP0232 The Role of Baseline FCRL5 MRNA Expression in Predicting Response to Rituximab (RTX) Therapy in Patients with Granulomatous Polyangiitis (GPA) or Microscopic Polyangiitis (MPA)

Author

Owczarczyk, K., primary, Holweg, C., additional, Ortmann, W., additional, Behrens, T., additional, Brunetta, P., additional, Specks, U., additional, Phippard, D., additional, Ding, L., additional, Lim, N., additional, Tchao, N., additional, Ikle, D., additional, and Stone, J., additional

Published
2014
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25. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Author

Yu, Y. (Yi), Bhangale, T. (Tushar), Fagerness, J. (Jesen), Ripke, S. (Stephan), Thorleifsson, G. (Gudmar), Tan, P.L. (Perciliz), Souied, E.H. (Eric), Richardson, A.J. (Andrea), Merriam, J.E. (Joanna), Buitendijk, G.H.S. (Gabrielle), Reynolds, R. (Robyn), Raychaudhuri, S. (Soumya), Chin, K.A. (Kimberly), Sobrin, L. (Lucia), Evangelou, E. (Evangelos), Lee, P.H. (Phil), Leveziel, N. (Nicolas), Zack, D.J. (Donald), Campochiaro, B. (Betsy), Smith, R.T. (Theodore), Barile, G.R. (Gaetano), Guymer, R.H. (Robyn), Hogg, R. (Ruth), Chakravarthy, U. (Usha), Robman, L.D. (Luba), Gustafsson, O. (Omar), Sigurdsson, H. (Haraldur), Ortmann, W. (Ward), Behrens, T.W. (Timothy), Stefansson, K. (Kari), Uitterlinden, A.G. (André), Tikka-Kleemola, P. (Päivi), Vingerling, J.R. (Hans), Klaver, C.C.W. (Caroline), Allikmets, R. (Rando), Brantley, M.A. (Milam), Baird, P.N. (Paul), Katsanis, N. (Nicholas), Thorsteinsdottir, U. (Unnur), Ioannidis, J.P.A. (John), Daly, M.J. (Mark), Graham, R.R. (Robert), Seddon, J.M. (Johanna), Yu, Y. (Yi), Bhangale, T. (Tushar), Fagerness, J. (Jesen), Ripke, S. (Stephan), Thorleifsson, G. (Gudmar), Tan, P.L. (Perciliz), Souied, E.H. (Eric), Richardson, A.J. (Andrea), Merriam, J.E. (Joanna), Buitendijk, G.H.S. (Gabrielle), Reynolds, R. (Robyn), Raychaudhuri, S. (Soumya), Chin, K.A. (Kimberly), Sobrin, L. (Lucia), Evangelou, E. (Evangelos), Lee, P.H. (Phil), Leveziel, N. (Nicolas), Zack, D.J. (Donald), Campochiaro, B. (Betsy), Smith, R.T. (Theodore), Barile, G.R. (Gaetano), Guymer, R.H. (Robyn), Hogg, R. (Ruth), Chakravarthy, U. (Usha), Robman, L.D. (Luba), Gustafsson, O. (Omar), Sigurdsson, H. (Haraldur), Ortmann, W. (Ward), Behrens, T.W. (Timothy), Stefansson, K. (Kari), Uitterlinden, A.G. (André), Tikka-Kleemola, P. (Päivi), Vingerling, J.R. (Hans), Klaver, C.C.W. (Caroline), Allikmets, R. (Rando), Brantley, M.A. (Milam), Baird, P.N. (Paul), Katsanis, N. (Nicholas), Thorsteinsdottir, U. (Unnur), Ioannidis, J.P.A. (John), Daly, M.J. (Mark), Graham, R.R. (Robert), and Seddon, J.M. (Johanna)

Abstract

Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date for advanced AMD. We imputed 6 036 699 single-nucleotide polymorphisms with the 1000 Genomes Project reference genotypes on 2594 cases and 4134 controls with follow-up replication of top signals in 5640 cases and 52 174 controls. We identified two new common susceptibility alleles, rs1999930 on 6q21-q22.3 near FRK/COL10A1 [odds ratio (OR) 0.87; P 5 1.1 × 10-8] and rs4711751 on 6p12 near VEGFA (OR 1.15; P 5 8.7 × 10-9). In addition to the two novel loci, 10 previously reported loci in ARMS2/HTRA1 (rs10490924), CFH (rs1061170, and rs1410996), CFB (rs641153), C3 (rs2230199), C2 (rs9332739), CFI (rs10033900), LIPC (rs10468017), TIMP3 (rs9621532) and CETP (rs3764261) were confirmed with genomewide significant signals in this large study. Loci in the recently reported genes ABCA1 and COL8A1 were also detected with suggestive evidence of association with advanced AMD. The novel variants identified in this study suggest that angiogenesis (VEGFA) and extracellular collagen matrix (FRK/COL10A1) pathways contribute to the development of advanced AMD.

Published
2011
Full Text
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26. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Author

Yu, Y, Bhangale, TR, Fagerness, J, Ripke, S, Thorleifsson, G, Tan, PL, Souied, EH, Richardson, AJ, Merriam, JE, Buitendijk, GHS, Reynolds, R, Raychaudhuri, S, Chin, KA, Sobrin, L, Evangelou, E, Lee, PH, Lee, AY, Leveziel, N, Zack, DJ, Campochiaro, B, Campochiaro, P, Smith, RT, Barile, GR, Guymer, RH, Hogg, R, Chakravarthy, U, Robman, LD, Gustafsson, O, Sigurdsson, H, Ortmann, W, Behrens, TW, Stefansson, K, Uitterlinden, AG, van Duijn, CM, Vingerling, JR, Klaver, CCW, Allikmets, R, Brantley, MA, Baird, PN, Katsanis, N, Thorsteinsdottir, U, Ioannidis, JPA, Daly, MJ, Graham, RR, Seddon, JM, Yu, Y, Bhangale, TR, Fagerness, J, Ripke, S, Thorleifsson, G, Tan, PL, Souied, EH, Richardson, AJ, Merriam, JE, Buitendijk, GHS, Reynolds, R, Raychaudhuri, S, Chin, KA, Sobrin, L, Evangelou, E, Lee, PH, Lee, AY, Leveziel, N, Zack, DJ, Campochiaro, B, Campochiaro, P, Smith, RT, Barile, GR, Guymer, RH, Hogg, R, Chakravarthy, U, Robman, LD, Gustafsson, O, Sigurdsson, H, Ortmann, W, Behrens, TW, Stefansson, K, Uitterlinden, AG, van Duijn, CM, Vingerling, JR, Klaver, CCW, Allikmets, R, Brantley, MA, Baird, PN, Katsanis, N, Thorsteinsdottir, U, Ioannidis, JPA, Daly, MJ, Graham, RR, and Seddon, JM

Abstract

Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date for advanced AMD. We imputed 6 036 699 single-nucleotide polymorphisms with the 1000 Genomes Project reference genotypes on 2594 cases and 4134 controls with follow-up replication of top signals in 5640 cases and 52 174 controls. We identified two new common susceptibility alleles, rs1999930 on 6q21-q22.3 near FRK/COL10A1 [odds ratio (OR) 0.87; P = 1.1 × 10(-8)] and rs4711751 on 6p12 near VEGFA (OR 1.15; P = 8.7 × 10(-9)). In addition to the two novel loci, 10 previously reported loci in ARMS2/HTRA1 (rs10490924), CFH (rs1061170, and rs1410996), CFB (rs641153), C3 (rs2230199), C2 (rs9332739), CFI (rs10033900), LIPC (rs10468017), TIMP3 (rs9621532) and CETP (rs3764261) were confirmed with genome-wide significant signals in this large study. Loci in the recently reported genes ABCA1 and COL8A1 were also detected with suggestive evidence of association with advanced AMD. The novel variants identified in this study suggest that angiogenesis (VEGFA) and extracellular collagen matrix (FRK/COL10A1) pathways contribute to the development of advanced AMD.

Published
2011

27. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Author

Yu, Y (Yi), Bhangale, TR, Fagerness, J, Ripke, S, Thorleifsson, G, Tan, PL, Souied, EH, Richardson, AJ, Merriam, JE, Buitendijk, Gabriëlle, Reynolds, R, Raychaudhuri, S, Chin, KA, Sobrin, L, Evangelou, E, Lee, PH, Lee, A Y, Leveziel, N, Zack, DJ, Campochiaro, B, Campochiaro, P, Smith, RT, Barile, GR, Guymer, RH, Hogg, R, Chakravarthy, U, Robman, LD, Gustafsson, O, Sigurdsson, H, Ortmann, W, Behrens, TW, Stefansson, K, Uitterlinden, André, Duijn, Cornelia, Vingerling, Hans, Klaver, Caroline, Allikmets, R, Brantley, MA, Baird, PN, Katsanis, N, Thorsteinsdottir, U, Ioannidis, JPA, Daly, MJ, Graham, RR, Seddon, JM, Yu, Y (Yi), Bhangale, TR, Fagerness, J, Ripke, S, Thorleifsson, G, Tan, PL, Souied, EH, Richardson, AJ, Merriam, JE, Buitendijk, Gabriëlle, Reynolds, R, Raychaudhuri, S, Chin, KA, Sobrin, L, Evangelou, E, Lee, PH, Lee, A Y, Leveziel, N, Zack, DJ, Campochiaro, B, Campochiaro, P, Smith, RT, Barile, GR, Guymer, RH, Hogg, R, Chakravarthy, U, Robman, LD, Gustafsson, O, Sigurdsson, H, Ortmann, W, Behrens, TW, Stefansson, K, Uitterlinden, André, Duijn, Cornelia, Vingerling, Hans, Klaver, Caroline, Allikmets, R, Brantley, MA, Baird, PN, Katsanis, N, Thorsteinsdottir, U, Ioannidis, JPA, Daly, MJ, Graham, RR, and Seddon, JM

Abstract

Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date for advanced AMD. We imputed 6 036 699 single-nucleotide polymorphisms with the 1000 Genomes Project reference genotypes on 2594 cases and 4134 controls with follow-up replication of top signals in 5640 cases and 52 174 controls. We identified two new common susceptibility alleles, rs1999930 on 6q21-q22.3 near FRK/COL10A1 [odds ratio (OR) 0.87; P = 1.1 x 10(-8)] and rs4711751 on 6p12 near VEGFA (OR 1.15; P = 8.7 x 10(-9)). In addition to the two novel loci, 10 previously reported loci in ARMS2/HTRA1 (rs10490924), CFH (rs1061170, and rs1410996), CFB (rs641153), C3 (rs2230199), C2 (rs9332739), CFI (rs10033900), LIPC (rs10468017), TIMP3 (rs9621532) and CETP (rs3764261) were confirmed with genome-wide significant signals in this large study. Loci in the recently reported genes ABCA1 and COL8A1 were also detected with suggestive evidence of association with advanced AMD. The novel variants identified in this study suggest that angiogenesis (VEGFA) and extracellular collagen matrix (FRK/COL10A1) pathways contribute to the development of advanced AMD.

Published
2011

28. Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus

Author

Forabosco, P., Gorman, J. D., Cleveland, C., Kelly, J. A., Fisher, S. A., Ortmann, W. A., Johansson, Cecilia, Johanneson, Bo, Moser, K. L., Gaffney, P. M., Tsao, B. P., Cantor, R. M., Alarcón-Riquelme, Marta E., Behrens, T. W., Harley, J. B., Lewis, C. M., Criswell, Lindsey A., Forabosco, P., Gorman, J. D., Cleveland, C., Kelly, J. A., Fisher, S. A., Ortmann, W. A., Johansson, Cecilia, Johanneson, Bo, Moser, K. L., Gaffney, P. M., Tsao, B. P., Cantor, R. M., Alarcón-Riquelme, Marta E., Behrens, T. W., Harley, J. B., Lewis, C. M., and Criswell, Lindsey A.

Abstract

A genetic contribution to the development of systemic lupus erythematosus (SLE) is well established. Several genome-wide linkage scans have identified a number of putative susceptibility loci for SLE, some of which have been replicated in independent samples. This study aimed to identify the regions showing the most consistent evidence for linkage by applying the genome scan meta-analysis (GSMA) method. The study identified two genome-wide suggestive regions on 6p21.1-q15 and 20p11-q13.13 (P-value=0.0056 and P-value=0.0044, respectively) and a region with P-value<0.01 on 16p13-q12.2.The region on chromosome 6 contains the human leukocyte antigen cluster, and the chromosome 16 and 20 regions have been replicated in several cohorts. The potential importance of the identified genomic regions are also highlighted. These results, in conjunction with data emerging from dense single nucleotide polymorphism typing of specific regions or future genome-wide association studies will help guide efforts to identify the actual predisposing genetic variation contributing to this complex genetic disease.

Published
2006
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30. European population substructure correlates with systemic lupus erythematosus endophenotypes in North Americans of European descent

Author

Richman, I B, primary, Chung, S A, additional, Taylor, K E, additional, Kosoy, R, additional, Tian, C, additional, Ortmann, W A, additional, Nititham, J, additional, Lee, A T, additional, Rutman, S, additional, Petri, M, additional, Manzi, S, additional, Behrens, T W, additional, Gregersen, P K, additional, Seldin, M F, additional, and Criswell, L A, additional

Published
2009
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