OBJECTIVE: In a genome-wide association study of Caucasian patients with juvenile idiopathic arthritis (JIA), we have previously described findings limited to autoimmunity loci shared by JIA and other diseases. The present study was undertaken to identify novel JIA-predisposing loci using genome-wide approaches. METHODS: The discovery cohort consisted of Caucasian JIA cases (n = 814) and local controls (n = 658) genotyped on the Affymetrix Genome-Wide SNP 6.0 Array, along with 2,400 out-of-study controls. In a replication study, we genotyped 10 single-nucleotide polymorphisms (SNPs) in 1,744 cases and 7,010 controls from the US and Europe. RESULTS: Analysis within the discovery cohort provided evidence of associations at 3q13 within C3orf1 and near CD80 (rs4688011) (odds ratio [OR] 1.37, P = 1.88 × 10(-6) ) and at 10q21 near JMJD1C (rs647989 [OR 1.59, P = 6.1 × 10(-8) ], rs12411988 [OR 1.57, P = 1.16 × 10(-7) ], and rs10995450 [OR 1.31, P = 6.74 × 10(-5) ]). Meta-analysis provided further evidence of association for these 4 SNPs (P = 3.6 × 10(-7) for rs4688011, P = 4.33 × 10(-5) for rs6479891, P = 2.71 × 10(-5) for rs12411988, and P = 5.39 × 10(-5) for rs10995450). Gene expression data on 68 JIA cases and 23 local controls showed cis expression quantitative trait locus associations for C3orf1 SNP rs4688011 (P = 0.024 or P = 0.034, depending on the probe set) and JMJD1C SNPs rs6479891 and rs12411988 (P = 0.01 or P = 0.04, depending on the probe set and P = 0.008, respectively). Using a variance component liability model, it was estimated that common SNP variation accounts for approximately one-third of JIA susceptibility. CONCLUSION: Genetic association results and correlated gene expression findings provide evidence of JIA association at 3q13 and suggest novel genes as plausible candidates in disease pathology.
OBJECTIVE: In a genome-wide association study of Caucasian patients with juvenile idiopathic arthritis (JIA), we have previously described findings limited to autoimmunity loci shared by JIA and other diseases. The present study was undertaken to identify novel JIA-predisposing loci using genome-wide approaches. METHODS: The discovery cohort consisted of Caucasian JIA cases (n = 814) and local controls (n = 658) genotyped on the Affymetrix Genome-Wide SNP 6.0 Array, along with 2,400 out-of-study controls. In a replication study, we genotyped 10 single-nucleotide polymorphisms (SNPs) in 1,744 cases and 7,010 controls from the US and Europe. RESULTS: Analysis within the discovery cohort provided evidence of associations at 3q13 within C3orf1 and near CD80 (rs4688011) (odds ratio [OR] 1.37, P = 1.88 × 10(-6) ) and at 10q21 near JMJD1C (rs647989 [OR 1.59, P = 6.1 × 10(-8) ], rs12411988 [OR 1.57, P = 1.16 × 10(-7) ], and rs10995450 [OR 1.31, P = 6.74 × 10(-5) ]). Meta-analysis provided further evidence of association for these 4 SNPs (P = 3.6 × 10(-7) for rs4688011, P = 4.33 × 10(-5) for rs6479891, P = 2.71 × 10(-5) for rs12411988, and P = 5.39 × 10(-5) for rs10995450). Gene expression data on 68 JIA cases and 23 local controls showed cis expression quantitative trait locus associations for C3orf1 SNP rs4688011 (P = 0.024 or P = 0.034, depending on the probe set) and JMJD1C SNPs rs6479891 and rs12411988 (P = 0.01 or P = 0.04, depending on the probe set and P = 0.008, respectively). Using a variance component liability model, it was estimated that common SNP variation accounts for approximately one-third of JIA susceptibility. CONCLUSION: Genetic association results and correlated gene expression findings provide evidence of JIA association at 3q13 and suggest novel genes as plausible candidates in disease pathology.
Authors: Susan D Thompson; Marc Sudman; Paula S Ramos; Miranda C Marion; Mary Ryan; Monica Tsoras; Tracey Weiler; Michael Wagner; Mehdi Keddache; J Peter Haas; Cornelia Mueller; Sampath Prahalad; John Bohnsack; Carol A Wise; Marilynn Punaro; Dongping Zhang; Carlos D Rosé; Mary E Comeau; Jasmin Divers; David N Glass; Carl D Langefeld Journal: Arthritis Rheum Date: 2010-11
Authors: Anna L Dixon; Liming Liang; Miriam F Moffatt; Wei Chen; Simon Heath; Kenny C C Wong; Jenny Taylor; Edward Burnett; Ivo Gut; Martin Farrall; G Mark Lathrop; Gonçalo R Abecasis; William O C Cookson Journal: Nat Genet Date: 2007-09-16 Impact factor: 38.330
Authors: Thomas A Griffin; Michael G Barnes; Norman T Ilowite; Judyann C Olson; David D Sherry; Beth S Gottlieb; Bruce J Aronow; Paul Pavlidis; Claas H Hinze; Sherry Thornton; Susan D Thompson; Alexei A Grom; Robert A Colbert; David N Glass Journal: Arthritis Rheum Date: 2009-07
Authors: Edward M Behrens; Terri H Finkel; Jonathan P Bradfield; Cecilia E Kim; LaKenya Linton; Tracy Casalunovo; Edward C Frackelton; Erin Santa; F George Otieno; Joseph T Glessner; Rosetta M Chiavacci; Struan F A Grant; Hakon Hakonarson Journal: Arthritis Rheum Date: 2008-07
Authors: Mark S Fife; Laura Gathercole; Emma M Ogilvie; Carmel J W Stock; Lisa F Mack; Rachelle P Donn; Wendy Thomson; Patricia Woo Journal: Arthritis Rheum Date: 2007-03
Authors: Patrick C A Dubois; Gosia Trynka; Lude Franke; Karen A Hunt; Jihane Romanos; Alessandra Curtotti; Alexandra Zhernakova; Graham A R Heap; Róza Adány; Arpo Aromaa; Maria Teresa Bardella; Leonard H van den Berg; Nicholas A Bockett; Emilio G de la Concha; Bárbara Dema; Rudolf S N Fehrmann; Miguel Fernández-Arquero; Szilvia Fiatal; Elvira Grandone; Peter M Green; Harry J M Groen; Rhian Gwilliam; Roderick H J Houwen; Sarah E Hunt; Katri Kaukinen; Dermot Kelleher; Ilma Korponay-Szabo; Kalle Kurppa; Padraic MacMathuna; Markku Mäki; Maria Cristina Mazzilli; Owen T McCann; M Luisa Mearin; Charles A Mein; Muddassar M Mirza; Vanisha Mistry; Barbara Mora; Katherine I Morley; Chris J Mulder; Joseph A Murray; Concepción Núñez; Elvira Oosterom; Roel A Ophoff; Isabel Polanco; Leena Peltonen; Mathieu Platteel; Anna Rybak; Veikko Salomaa; Joachim J Schweizer; Maria Pia Sperandeo; Greetje J Tack; Graham Turner; Jan H Veldink; Wieke H M Verbeek; Rinse K Weersma; Victorien M Wolters; Elena Urcelay; Bozena Cukrowska; Luigi Greco; Susan L Neuhausen; Ross McManus; Donatella Barisani; Panos Deloukas; Jeffrey C Barrett; Paivi Saavalainen; Cisca Wijmenga; David A van Heel Journal: Nat Genet Date: 2010-02-28 Impact factor: 38.330
Authors: Laura A McIntosh; Miranda C Marion; Marc Sudman; Mary E Comeau; Mara L Becker; John F Bohnsack; Tasha E Fingerlin; Thomas A Griffin; J Peter Haas; Daniel J Lovell; Lisa A Maier; Peter A Nigrovic; Sampath Prahalad; Marilynn Punaro; Carlos D Rosé; Carol A Wallace; Carol A Wise; Halima Moncrieffe; Timothy D Howard; Carl D Langefeld; Susan D Thompson Journal: Arthritis Rheumatol Date: 2017-10-12 Impact factor: 10.995
Authors: Berta Almoguera; Lyam Vazquez; Frank Mentch; John Connolly; Jennifer A Pacheco; Agnes S Sundaresan; Peggy L Peissig; James G Linneman; Catherine A McCarty; David Crosslin; David S Carrell; Todd Lingren; Bahram Namjou-Khales; John B Harley; Eric Larson; Gail P Jarvik; Murray Brilliant; Marc S Williams; Iftikhar J Kullo; Erik B Hysinger; Patrick M A Sleiman; Hakon Hakonarson Journal: Am J Respir Crit Care Med Date: 2017-02-15 Impact factor: 21.405
Authors: Philip C Haycock; Stephen Burgess; Aayah Nounu; Jie Zheng; George N Okoli; Jack Bowden; Kaitlin Hazel Wade; Nicholas J Timpson; David M Evans; Peter Willeit; Abraham Aviv; Tom R Gaunt; Gibran Hemani; Massimo Mangino; Hayley Patricia Ellis; Kathreena M Kurian; Karen A Pooley; Rosalind A Eeles; Jeffrey E Lee; Shenying Fang; Wei V Chen; Matthew H Law; Lisa M Bowdler; Mark M Iles; Qiong Yang; Bradford B Worrall; Hugh Stephen Markus; Rayjean J Hung; Chris I Amos; Amanda B Spurdle; Deborah J Thompson; Tracy A O'Mara; Brian Wolpin; Laufey Amundadottir; Rachael Stolzenberg-Solomon; Antonia Trichopoulou; N Charlotte Onland-Moret; Eiliv Lund; Eric J Duell; Federico Canzian; Gianluca Severi; Kim Overvad; Marc J Gunter; Rosario Tumino; Ulrika Svenson; Andre van Rij; Annette F Baas; Matthew J Bown; Nilesh J Samani; Femke N G van t'Hof; Gerard Tromp; Gregory T Jones; Helena Kuivaniemi; James R Elmore; Mattias Johansson; James Mckay; Ghislaine Scelo; Robert Carreras-Torres; Valerie Gaborieau; Paul Brennan; Paige M Bracci; Rachel E Neale; Sara H Olson; Steven Gallinger; Donghui Li; Gloria M Petersen; Harvey A Risch; Alison P Klein; Jiali Han; Christian C Abnet; Neal D Freedman; Philip R Taylor; John M Maris; Katja K Aben; Lambertus A Kiemeney; Sita H Vermeulen; John K Wiencke; Kyle M Walsh; Margaret Wrensch; Terri Rice; Clare Turnbull; Kevin Litchfield; Lavinia Paternoster; Marie Standl; Gonçalo R Abecasis; John Paul SanGiovanni; Yong Li; Vladan Mijatovic; Yadav Sapkota; Siew-Kee Low; Krina T Zondervan; Grant W Montgomery; Dale R Nyholt; David A van Heel; Karen Hunt; Dan E Arking; Foram N Ashar; Nona Sotoodehnia; Daniel Woo; Jonathan Rosand; Mary E Comeau; W Mark Brown; Edwin K Silverman; John E Hokanson; Michael H Cho; Jennie Hui; Manuel A Ferreira; Philip J Thompson; Alanna C Morrison; Janine F Felix; Nicholas L Smith; Angela M Christiano; Lynn Petukhova; Regina C Betz; Xing Fan; Xuejun Zhang; Caihong Zhu; Carl D Langefeld; Susan D Thompson; Feijie Wang; Xu Lin; David A Schwartz; Tasha Fingerlin; Jerome I Rotter; Mary Frances Cotch; Richard A Jensen; Matthias Munz; Henrik Dommisch; Arne S Schaefer; Fang Han; Hanna M Ollila; Ryan P Hillary; Omar Albagha; Stuart H Ralston; Chenjie Zeng; Wei Zheng; Xiao-Ou Shu; Andre Reis; Steffen Uebe; Ulrike Hüffmeier; Yoshiya Kawamura; Takeshi Otowa; Tsukasa Sasaki; Martin Lloyd Hibberd; Sonia Davila; Gang Xie; Katherine Siminovitch; Jin-Xin Bei; Yi-Xin Zeng; Asta Försti; Bowang Chen; Stefano Landi; Andre Franke; Annegret Fischer; David Ellinghaus; Carlos Flores; Imre Noth; Shwu-Fan Ma; Jia Nee Foo; Jianjun Liu; Jong-Won Kim; David G Cox; Olivier Delattre; Olivier Mirabeau; Christine F Skibola; Clara S Tang; Merce Garcia-Barcelo; Kai-Ping Chang; Wen-Hui Su; Yu-Sun Chang; Nicholas G Martin; Scott Gordon; Tracey D Wade; Chaeyoung Lee; Michiaki Kubo; Pei-Chieng Cha; Yusuke Nakamura; Daniel Levy; Masayuki Kimura; Shih-Jen Hwang; Steven Hunt; Tim Spector; Nicole Soranzo; Ani W Manichaikul; R Graham Barr; Bratati Kahali; Elizabeth Speliotes; Laura M Yerges-Armstrong; Ching-Yu Cheng; Jost B Jonas; Tien Yin Wong; Isabella Fogh; Kuang Lin; John F Powell; Kenneth Rice; Caroline L Relton; Richard M Martin; George Davey Smith Journal: JAMA Oncol Date: 2017-05-01 Impact factor: 31.777
Authors: Justine A Ellis; Raul A Chavez; Angela Pezic; Anne-Louise Ponsonby; Jonathan D Akikusa; Roger C Allen; Jane E Munro Journal: Pediatr Rheumatol Online J Date: 2013-03-18 Impact factor: 3.054
Authors: Anne Hinks; Joanna Cobb; Miranda C Marion; Sampath Prahalad; Marc Sudman; John Bowes; Paul Martin; Mary E Comeau; Satria Sajuthi; Robert Andrews; Milton Brown; Wei-Min Chen; Patrick Concannon; Panos Deloukas; Sarah Edkins; Stephen Eyre; Patrick M Gaffney; Stephen L Guthery; Joel M Guthridge; Sarah E Hunt; Judith A James; Mehdi Keddache; Kathy L Moser; Peter A Nigrovic; Suna Onengut-Gumuscu; Mitchell L Onslow; Carlos D Rosé; Stephen S Rich; Kathryn J A Steel; Edward K Wakeland; Carol A Wallace; Lucy R Wedderburn; Patricia Woo; John F Bohnsack; Johannes Peter Haas; David N Glass; Carl D Langefeld; Wendy Thomson; Susan D Thompson Journal: Nat Genet Date: 2013-04-21 Impact factor: 38.330
Authors: Justine A Ellis; Anne-Louise Ponsonby; Angela Pezic; Raul A Chavez; Roger C Allen; Jonathan D Akikusa; Jane E Munro Journal: Pediatr Rheumatol Online J Date: 2012-11-15 Impact factor: 3.054