GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

Authors: Elena López-Isac, Marialbert Acosta-Herrera, Martin Kerick, Shervin Assassi, Ansuman T. Satpathy, Jeffrey Granja, Maxwell R. Mumbach, Lorenzo Beretta, Carmen P. Simeón, Patricia Carreira, Norberto Ortego-Centeno, Ivan Castellvi, Lara Bossini-Castillo, F. David Carmona, Gisela Orozco, Nicolas Hunzelmann, Jörg H. W. Distler, Andre Franke, Claudio Lunardi, Gianluca Moroncini, Armando Gabrielli, Jeska de Vries-Bouwstra, Cisca Wijmenga, Bobby P. C. Koeleman, Annika Nordin, Leonid Padyukov, Anna-Maria Hoffmann-Vold, Benedicte Lie, European Scleroderma Group, Susanna Proudman, Wendy Stevens, Mandana Nikpour, Australian Scleroderma Interest Group (ASIG), Timothy Vyse, Ariane L. Herrick, Jane Worthington, Christopher P. Denton, Yannick Allanore, Matthew A. Brown, Timothy R. D. J. Radstake, Carmen Fonseca, Howard Y. Chang, Maureen D. Mayes, Javier Martin

Source: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/2c83b5b19dd94142a96da7824aa29e78

Increased DNA methylation variability in rheumatoid arthritis-discordant monozygotic twins

Authors: Amy P. Webster, Darren Plant, Simone Ecker, Flore Zufferey, Jordana T. Bell, Andrew Feber, Dirk S. Paul, Stephan Beck, Anne Barton, Frances M. K. Williams, Jane Worthington

Source: Genome Medicine, Vol 10, Iss 1, Pp 1-12 (2018)

Subject Terms: Autoimmune disease, Rheumatoid arthritis, Epigenetics, DNA methylation, Twins, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-018-0575-9; https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/32c0c5c3851c446a9a59cd9cd1a9608c

Genotypic variability based association identifies novel non-additive loci DHCR7 and IRF4 in sero-negative rheumatoid arthritis

Authors: Wen-Hua Wei, Sebastien Viatte, Tony R. Merriman, Anne Barton, Jane Worthington

Source: Scientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/8b4958a4495d40b89377dd5449f32cbc

A Role for Noncoding Variation in Schizophrenia

Authors: Panos Roussos, Amanda C. Mitchell, Georgios Voloudakis, John F. Fullard, Venu M. Pothula, Jonathan Tsang, Eli A. Stahl, Anastasios Georgakopoulos, Douglas M. Ruderfer, Alexander Charney, Yukinori Okada, Katherine A. Siminovitch, Jane Worthington, Leonid Padyukov, Lars Klareskog, Peter K. Gregersen, Robert M. Plenge, Soumya Raychaudhuri, Menachem Fromer, Shaun M. Purcell, Kristen J. Brennand, Nikolaos K. Robakis, Eric E. Schadt, Schahram Akbarian, Pamela Sklar

Source: Cell Reports, Vol 9, Iss 4, Pp 1417-1429 (2014)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124714008699; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/21a929781d864d7ab346669358864257

Identifying Causal Genes at the Multiple Sclerosis Associated Region 6q23 Using Capture Hi-C.

Authors: Paul Martin, Amanda McGovern, Jonathan Massey, Stefan Schoenfelder, Kate Duffus, Annie Yarwood, Anne Barton, Jane Worthington, Peter Fraser, Stephen Eyre, Gisela Orozco

Source: PLoS ONE, Vol 11, Iss 11, p e0166923 (2016)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/8522a4146c414caba49e01a735871ae1

TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits.

Authors: Dorothée Diogo, Lisa Bastarache, Katherine P Liao, Robert R Graham, Robert S Fulton, Jeffrey D Greenberg, Steve Eyre, John Bowes, Jing Cui, Annette Lee, Dimitrios A Pappas, Joel M Kremer, Anne Barton, Marieke J H Coenen, Barbara Franke, Lambertus A Kiemeney, Xavier Mariette, Corrine Richard-Miceli, Helena Canhão, João E Fonseca, Niek de Vries, Paul P Tak, J Bart A Crusius, Michael T Nurmohamed, Fina Kurreeman, Ted R Mikuls, Yukinori Okada, Eli A Stahl, David E Larson, Tracie L Deluca, Michelle O'Laughlin, Catrina C Fronick, Lucinda L Fulton, Roman Kosoy, Michael Ransom, Tushar R Bhangale, Ward Ortmann, Andrew Cagan, Vivian Gainer, Elizabeth W Karlson, Isaac Kohane, Shawn N Murphy, Javier Martin, Alexandra Zhernakova, Lars Klareskog, Leonid Padyukov, Jane Worthington, Elaine R Mardis, Michael F Seldin, Peter K Gregersen, Timothy Behrens, Soumya Raychaudhuri, Joshua C Denny, Robert M Plenge

Source: PLoS ONE, Vol 10, Iss 4, p e0122271 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4388675?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/beb6d79c3e184701a89299ca92e0df4f

Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.

Authors: Yukinori Okada, Dorothee Diogo, Jeffrey D Greenberg, Faten Mouassess, Walid A L Achkar, Robert S Fulton, Joshua C Denny, Namrata Gupta, Daniel Mirel, Stacy Gabriel, Gang Li, Joel M Kremer, Dimitrios A Pappas, Robert J Carroll, Anne E Eyler, Gosia Trynka, Eli A Stahl, Jing Cui, Richa Saxena, Marieke J H Coenen, Henk-Jan Guchelaar, Tom W J Huizinga, Philippe Dieudé, Xavier Mariette, Anne Barton, Helena Canhão, João E Fonseca, Niek de Vries, Paul P Tak, Larry W Moreland, S Louis Bridges, Corinne Miceli-Richard, Hyon K Choi, Yoichiro Kamatani, Pilar Galan, Mark Lathrop, Towfique Raj, Philip L De Jager, Soumya Raychaudhuri, Jane Worthington, Leonid Padyukov, Lars Klareskog, Katherine A Siminovitch, Peter K Gregersen, Elaine R Mardis, Thurayya Arayssi, Layla A Kazkaz, Robert M Plenge

Source: PLoS ONE, Vol 9, Iss 2, p e87645 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3919745?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/2190887409354955965ee70f47ab4ea7

Correction: Predicting the Risk of Rheumatoid Arthritis and Its Age of Onset through Modelling Genetic Risk Variants with Smoking.

Authors: Ian C. Scott, Seth D. Seegobin, Sophia Steer, Rachael Tan, Paola Forabosco, Anne Hinks, Stephen Eyre, Ann W. Morgan, Anthony G. Wilson, Lynne J. Hocking, Paul Wordsworth, Anne Barton, Jane Worthington, Andrew P. Cope, Cathryn M. Lewis

Source: PLoS Genetics, Vol 9, Iss 10 (2013)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3806684; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/dea36ebbb53f4fdab84e7fb35c8ce65a

Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway.

Authors: Gang Li, Dorothée Diogo, Di Wu, Jim Spoonamore, Vlado Dancik, Lude Franke, Fina Kurreeman, Elizabeth J Rossin, Grant Duclos, Cathy Hartland, Xuezhong Zhou, Kejie Li, Jun Liu, Philip L De Jager, Katherine A Siminovitch, Alexandra Zhernakova, Soumya Raychaudhuri, John Bowes, Steve Eyre, Leonid Padyukov, Peter K Gregersen, Jane Worthington, Rheumatoid Arthritis Consortium International (RACI), Namrata Gupta, Paul A Clemons, Eli Stahl, Nicola Tolliday, Robert M Plenge

Source: PLoS Genetics, Vol 9, Iss 5, p e1003487 (2013)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3656093?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/603abdaa6bb84998953d03c9d0b32fa5

Predicting the risk of rheumatoid arthritis and its age of onset through modelling genetic risk variants with smoking.

Authors: Ian C Scott, Seth D Seegobin, Sophia Steer, Rachael Tan, Paola Forabosco, Anne Hinks, Stephen Eyre, Ann W Morgan, Anthony G Wilson, Lynne J Hocking, Paul Wordsworth, Anne Barton, Jane Worthington, Andrew P Cope, Cathryn M Lewis

Source: PLoS Genetics, Vol 9, Iss 9, p e1003808 (2013)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24068971/?tool=EBI; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/3993128f7c024764988b842cfe98dea4

Identification of the tyrosine-protein phosphatase non-receptor type 2 as a rheumatoid arthritis susceptibility locus in europeans.

Authors: Joanna E Cobb, Darren Plant, Edward Flynn, Meriem Tadjeddine, Philippe Dieudé, François Cornélis, Lisbeth Ärlestig, Solbritt Rantapää Dahlqvist, George Goulielmos, Dimitrios T Boumpas, Prodromos Sidiropoulos, Sophine B Krintel, Lykke M Ørnbjerg, Merete L Hetland, Lars Klareskog, Thomas Haeupl, Andrew Filer, Christopher D Buckley, Karim Raza, Torsten Witte, Reinhold E Schmidt, Oliver FitzGerald, Douglas Veale, Stephen Eyre, Jane Worthington

Source: PLoS ONE, Vol 8, Iss 6, p e66456 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23840476/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/628ccdef86944f8a88af42fb2ef3e519

Quantifying missing heritability at known GWAS loci.

Authors: Alexander Gusev, Gaurav Bhatia, Noah Zaitlen, Bjarni J Vilhjalmsson, Dorothée Diogo, Eli A Stahl, Peter K Gregersen, Jane Worthington, Lars Klareskog, Soumya Raychaudhuri, Robert M Plenge, Bogdan Pasaniuc, Alkes L Price

Source: PLoS Genetics, Vol 9, Iss 12, p e1003993 (2013)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3873246?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/9993d2512a404b03bdb0dac3d986201c

The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.

Authors: F David Carmona, Jose-Ezequiel Martin, Lorenzo Beretta, Carmen P Simeón, Patricia E Carreira, José Luis Callejas, Mónica Fernández-Castro, Luis Sáez-Comet, Emma Beltrán, María Teresa Camps, María Victoria Egurbide, Spanish Scleroderma Group, Paolo Airó, Raffaella Scorza, Claudio Lunardi, Nicolas Hunzelmann, Gabriela Riemekasten, Torsten Witte, Alexander Kreuter, Jörg H W Distler, Rajan Madhok, Paul Shiels, Jacob M van Laar, Carmen Fonseca, Christopher Denton, Ariane Herrick, Jane Worthington, Annemie J Schuerwegh, Madelon C Vonk, Alexandre E Voskuyl, Timothy R D J Radstake, Javier Martín

Source: PLoS ONE, Vol 8, Iss 1, p e54419 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3553151?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/afa8ae7b7ebd4fc38220c9d307612f84

Informed conditioning on clinical covariates increases power in case-control association studies.

Authors: Noah Zaitlen, Sara Lindström, Bogdan Pasaniuc, Marilyn Cornelis, Giulio Genovese, Samuela Pollack, Anne Barton, Heike Bickeböller, Donald W Bowden, Steve Eyre, Barry I Freedman, David J Friedman, John K Field, Leif Groop, Aage Haugen, Joachim Heinrich, Brian E Henderson, Pamela J Hicks, Lynne J Hocking, Laurence N Kolonel, Maria Teresa Landi, Carl D Langefeld, Loic Le Marchand, Michael Meister, Ann W Morgan, Olaide Y Raji, Angela Risch, Albert Rosenberger, David Scherf, Sophia Steer, Martin Walshaw, Kevin M Waters, Anthony G Wilson, Paul Wordsworth, Shanbeh Zienolddiny, Eric Tchetgen Tchetgen, Christopher Haiman, David J Hunter, Robert M Plenge, Jane Worthington, David C Christiani, Debra A Schaumberg, Daniel I Chasman, David Altshuler, Benjamin Voight, Peter Kraft, Nick Patterson, Alkes L Price

Source: PLoS Genetics, Vol 8, Iss 11, p e1003032 (2012)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003032&type=printable; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/708d0c6242ad40ada417d4c7a6f43814

Interaction analysis between HLA-DRB1 shared epitope alleles and MHC class II transactivator CIITA gene with regard to risk of rheumatoid arthritis.

Authors: Marcus Ronninger, Maria Seddighzadeh, Morten Christoph Eike, Darren Plant, Nina A Daha, Beate Skinningsrud, Jane Worthington, Tore K Kvien, Rene E M Toes, Benedicte A Lie, Lars Alfredsson, Leonid Padyukov

Source: PLoS ONE, Vol 7, Iss 3, p e32861 (2012)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3312880?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/8a36cd766198420392d7d345949bfe68

Correction: Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy.

Authors: Olga Gorlova, Jose-Ezequiel Martin, Blanca Rueda, Bobby P. C. Koeleman, Jun Ying, Maria Teruel, Lina-Marcela Diaz-Gallo, Jasper C. Broen, Madelon C. Vonk, Carmen P. Simeon, Behrooz Z. Alizadeh, Marieke J. H. Coenen, Alexandre E. Voskuyl, Annemie J. Schuerwegh, Piet L. C. M. van Riel, Marie Vanthuyne, Ruben van 't Slot, Annet Italiaander, Roel A. Ophoff, Nicolas Hunzelmann, Vicente Fonollosa, Norberto Ortego-Centeno, Miguel A. González-Gay, Francisco J. García-Hernández, María F. González-Escribano, Paolo Airo, Jacob van Laar, Jane Worthington, Roger Hesselstrand, Vanessa Smith, Filip de Keyser, Fredric Houssiau, Meng May Chee, Rajan Madhok, Paul G. Shiels, Rene Westhovens, Alexander Kreuter, Elfride de Baere, Torsten Witte, Leonid Padyukov, Annika Nordin, Raffaella Scorza, Claudio Lunardi, Benedicte A. Lie, Anna-Maria Hoffmann-Vold, Øyvind Palm, Paloma García de la Peña, Patricia Carreira, John Varga, Monique Hinchcliff, Annette T. Lee, Pravitt Gourh, Christopher I. Amos, Frederick M. Wigley, Laura K. Hummers, J. Lee Nelson, Gabriella Riemekasten, Ariane Herrick, Lorenzo Beretta, Carmen Fonseca, Christopher P. Denton, Peter K. Gregersen, Sandeep Agarwal, Shervin Assassi, Filemon K. Tan, Frank C. Arnett, Timothy R. D. J. Radstake, Maureen D. Mayes, Javier Martin

Source: PLoS Genetics, Vol 7, Iss 8 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3166261; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/4d5606e9cb53448b8c0723d7f6339f4c

Pervasive sharing of genetic effects in autoimmune disease.

Authors: Chris Cotsapas, Benjamin F Voight, Elizabeth Rossin, Kasper Lage, Benjamin M Neale, Chris Wallace, Gonçalo R Abecasis, Jeffrey C Barrett, Timothy Behrens, Judy Cho, Philip L De Jager, James T Elder, Robert R Graham, Peter Gregersen, Lars Klareskog, Katherine A Siminovitch, David A van Heel, Cisca Wijmenga, Jane Worthington, John A Todd, David A Hafler, Stephen S Rich, Mark J Daly, FOCiS Network of Consortia

Source: PLoS Genetics, Vol 7, Iss 8, p e1002254 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3154137?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/42c5fc70902a4cdf9097cdf576794c8d

Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.

Authors: Olga Gorlova, Jose-Ezequiel Martin, Blanca Rueda, Bobby P C Koeleman, Jun Ying, Maria Teruel, Lina-Marcela Diaz-Gallo, Jasper C Broen, Madelon C Vonk, Carmen P Simeon, Behrooz Z Alizadeh, Marieke J H Coenen, Alexandre E Voskuyl, Annemie J Schuerwegh, Piet L C M van Riel, Marie Vanthuyne, Ruben van 't Slot, Annet Italiaander, Roel A Ophoff, Nicolas Hunzelmann, Vicente Fonollosa, Norberto Ortego-Centeno, Miguel A González-Gay, Francisco J García-Hernández, María F González-Escribano, Paolo Airo, Jacob van Laar, Jane Worthington, Roger Hesselstrand, Vanessa Smith, Filip de Keyser, Fredric Houssiau, Meng May Chee, Rajan Madhok, Paul G Shiels, Rene Westhovens, Alexander Kreuter, Elfride de Baere, Torsten Witte, Leonid Padyukov, Annika Nordin, Raffaella Scorza, Claudio Lunardi, Benedicte A Lie, Anna-Maria Hoffmann-Vold, Oyvind Palm, Paloma García de la Peña, Patricia Carreira, Spanish Scleroderma Group, John Varga, Monique Hinchcliff, Annette T Lee, Pravitt Gourh, Christopher I Amos, Frederick M Wigley, Laura K Hummers, J Lee Nelson, Gabriella Riemekasten, Ariane Herrick, Lorenzo Beretta, Carmen Fonseca, Christopher P Denton, Peter K Gregersen, Sandeep Agarwal, Shervin Assassi, Filemon K Tan, Frank C Arnett, Timothy R D J Radstake, Maureen D Mayes, Javier Martin

Source: PLoS Genetics, Vol 7, Iss 7, p e1002178 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3136437?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/a5f42acd89a14eab989b4aae529eeb02

Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

Authors: Alexandra Zhernakova, Eli A Stahl, Gosia Trynka, Soumya Raychaudhuri, Eleanora A Festen, Lude Franke, Harm-Jan Westra, Rudolf S N Fehrmann, Fina A S Kurreeman, Brian Thomson, Namrata Gupta, Jihane Romanos, Ross McManus, Anthony W Ryan, Graham Turner, Elisabeth Brouwer, Marcel D Posthumus, Elaine F Remmers, Francesca Tucci, Rene Toes, Elvira Grandone, Maria Cristina Mazzilli, Anna Rybak, Bozena Cukrowska, Marieke J H Coenen, Timothy R D J Radstake, Piet L C M van Riel, Yonghong Li, Paul I W de Bakker, Peter K Gregersen, Jane Worthington, Katherine A Siminovitch, Lars Klareskog, Tom W J Huizinga, Cisca Wijmenga, Robert M Plenge

Source: PLoS Genetics, Vol 7, Iss 2, p e1002004 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3044685?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/b66c2858e3224c6bb9fe0fcefec2095b

A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.

Authors: Ying Liu, Cynthia Helms, Wilson Liao, Lisa C Zaba, Shenghui Duan, Jennifer Gardner, Carol Wise, Andrew Miner, M J Malloy, Clive R Pullinger, John P Kane, Scott Saccone, Jane Worthington, Ian Bruce, Pui-Yan Kwok, Alan Menter, James Krueger, Anne Barton, Nancy L Saccone, Anne M Bowcock

Source: PLoS Genetics, Vol 4, Iss 3, p e1000041 (2008)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC2274885?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/509b68171b7e4068bca514340aa78af2