Literature DB >> 19838195

A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

Vesela Gateva, Johanna K Sandling, Geoff Hom, Kimberly E Taylor, Sharon A Chung, Xin Sun, Ward Ortmann, Roman Kosoy, Ricardo C Ferreira, Gunnel Nordmark, Iva Gunnarsson, Elisabet Svenungsson, Leonid Padyukov, Gunnar Sturfelt, Andreas Jönsen, Anders A Bengtsson, Solbritt Rantapää-Dahlqvist, Emily C Baechler, Elizabeth E Brown, Graciela S Alarcón, Jeffrey C Edberg, Rosalind Ramsey-Goldman, Gerald McGwin, John D Reveille, Luis M Vilá, Robert P Kimberly, Susan Manzi, Michelle A Petri, Annette Lee, Peter K Gregersen, Michael F Seldin, Lars Rönnblom, Lindsey A Criswell, Ann-Christine Syvänen, Timothy W Behrens, Robert R Graham.   

Abstract

Genome-wide association studies have recently identified at least 15 susceptibility loci for systemic lupus erythematosus (SLE). To confirm additional risk loci, we selected SNPs from 2,466 regions that showed nominal evidence of association to SLE (P < 0.05) in a genome-wide study and genotyped them in an independent sample of 1,963 cases and 4,329 controls. This replication effort identified five new SLE susceptibility loci (P < 5 x 10(-8)): TNIP1 (odds ratio (OR) = 1.27), PRDM1 (OR = 1.20), JAZF1 (OR = 1.20), UHRF1BP1 (OR = 1.17) and IL10 (OR = 1.19). We identified 21 additional candidate loci with P< or = 1 x 10(-5). A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P < 1 x 10(-3)) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3. These results expand the number of confirmed and candidate SLE susceptibility loci and implicate several key immunologic pathways in SLE pathogenesis.

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Year:  2009        PMID: 19838195      PMCID: PMC2925843          DOI: 10.1038/ng.468

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  37 in total

Review 1.  Genome-wide association studies for common diseases and complex traits.

Authors:  Joel N Hirschhorn; Mark J Daly
Journal:  Nat Rev Genet       Date:  2005-02       Impact factor: 53.242

2.  A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.

Authors:  Richard H Duerr; Kent D Taylor; Steven R Brant; John D Rioux; Mark S Silverberg; Mark J Daly; A Hillary Steinhart; Clara Abraham; Miguel Regueiro; Anne Griffiths; Themistocles Dassopoulos; Alain Bitton; Huiying Yang; Stephan Targan; Lisa Wu Datta; Emily O Kistner; L Philip Schumm; Annette T Lee; Peter K Gregersen; M Michael Barmada; Jerome I Rotter; Dan L Nicolae; Judy H Cho
Journal:  Science       Date:  2006-10-26       Impact factor: 47.728

3.  Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.

Authors:  Robert M Plenge; Chris Cotsapas; Leela Davies; Alkes L Price; Paul I W de Bakker; Julian Maller; Itsik Pe'er; Noel P Burtt; Brendan Blumenstiel; Matt DeFelice; Melissa Parkin; Rachel Barry; Wendy Winslow; Claire Healy; Robert R Graham; Benjamin M Neale; Elena Izmailova; Ronenn Roubenoff; Alexander N Parker; Roberta Glass; Elizabeth W Karlson; Nancy Maher; David A Hafler; David M Lee; Michael F Seldin; Elaine F Remmers; Annette T Lee; Leonid Padyukov; Lars Alfredsson; Jonathan Coblyn; Michael E Weinblatt; Stacey B Gabriel; Shaun Purcell; Lars Klareskog; Peter K Gregersen; Nancy A Shadick; Mark J Daly; David Altshuler
Journal:  Nat Genet       Date:  2007-11-04       Impact factor: 38.330

4.  Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.

Authors:  Snaevar Sigurdsson; Gunnel Nordmark; Harald H H Göring; Katarina Lindroos; Ann-Christin Wiman; Gunnar Sturfelt; Andreas Jönsen; Solbritt Rantapää-Dahlqvist; Bozena Möller; Juha Kere; Sari Koskenmies; Elisabeth Widén; Maija-Leena Eloranta; Heikki Julkunen; Helga Kristjansdottir; Kristjan Steinsson; Gunnar Alm; Lars Rönnblom; Ann-Christine Syvänen
Journal:  Am J Hum Genet       Date:  2005-01-18       Impact factor: 11.025

5.  Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis.

Authors:  Swapan K Nath; John B Harley; Young Ho Lee
Journal:  Hum Genet       Date:  2005-11-15       Impact factor: 4.132

Review 6.  Genetic analysis of autoimmune disease.

Authors:  T J Vyse; J A Todd
Journal:  Cell       Date:  1996-05-03       Impact factor: 41.582

7.  A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region.

Authors:  Deborah J Smyth; Jason D Cooper; Rebecca Bailey; Sarah Field; Oliver Burren; Luc J Smink; Cristian Guja; Constantin Ionescu-Tirgoviste; Barry Widmer; David B Dunger; David A Savage; Neil M Walker; David G Clayton; John A Todd
Journal:  Nat Genet       Date:  2006-05-14       Impact factor: 38.330

8.  Structure-function analysis of the A20-binding inhibitor of NF-kappa B activation, ABIN-1.

Authors:  Karen Heyninck; Marja M Kreike; Rudi Beyaert
Journal:  FEBS Lett       Date:  2003-02-11       Impact factor: 4.124

9.  Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.

Authors:  Bert Gold; Joanna E Merriam; Jana Zernant; Lisa S Hancox; Andrew J Taiber; Karen Gehrs; Kevin Cramer; Julia Neel; Julie Bergeron; Gaetano R Barile; R Theodore Smith; Gregory S Hageman; Michael Dean; Rando Allikmets
Journal:  Nat Genet       Date:  2006-03-05       Impact factor: 38.330

10.  Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility.

Authors:  Alison Sutherland; Jocelyn Davies; Catherine J Owen; Suresh Vaikkakara; Christine Walker; Timothy D Cheetham; R Andrew James; Petros Perros; Peter T Donaldson; Heather J Cordell; Richard Quinton; Simon H S Pearce
Journal:  J Clin Endocrinol Metab       Date:  2007-05-29       Impact factor: 5.958

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  397 in total

1.  Myeloid dendritic cells from B6.NZM Sle1/Sle2/Sle3 lupus-prone mice express an IFN signature that precedes disease onset.

Authors:  Uma Sriram; Linda Varghese; Heather L Bennett; Neelakshi R Jog; Debra K Shivers; Yue Ning; Edward M Behrens; Roberto Caricchio; Stefania Gallucci
Journal:  J Immunol       Date:  2012-06-01       Impact factor: 5.422

2.  Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

Authors:  Eli A Stahl; Soumya Raychaudhuri; Elaine F Remmers; Gang Xie; Stephen Eyre; Brian P Thomson; Yonghong Li; Fina A S Kurreeman; Alexandra Zhernakova; Anne Hinks; Candace Guiducci; Robert Chen; Lars Alfredsson; Christopher I Amos; Kristin G Ardlie; Anne Barton; John Bowes; Elisabeth Brouwer; Noel P Burtt; Joseph J Catanese; Jonathan Coblyn; Marieke J H Coenen; Karen H Costenbader; Lindsey A Criswell; J Bart A Crusius; Jing Cui; Paul I W de Bakker; Philip L De Jager; Bo Ding; Paul Emery; Edward Flynn; Pille Harrison; Lynne J Hocking; Tom W J Huizinga; Daniel L Kastner; Xiayi Ke; Annette T Lee; Xiangdong Liu; Paul Martin; Ann W Morgan; Leonid Padyukov; Marcel D Posthumus; Timothy R D J Radstake; David M Reid; Mark Seielstad; Michael F Seldin; Nancy A Shadick; Sophia Steer; Paul P Tak; Wendy Thomson; Annette H M van der Helm-van Mil; Irene E van der Horst-Bruinsma; C Ellen van der Schoot; Piet L C M van Riel; Michael E Weinblatt; Anthony G Wilson; Gert Jan Wolbink; B Paul Wordsworth; Cisca Wijmenga; Elizabeth W Karlson; Rene E M Toes; Niek de Vries; Ann B Begovich; Jane Worthington; Katherine A Siminovitch; Peter K Gregersen; Lars Klareskog; Robert M Plenge
Journal:  Nat Genet       Date:  2010-05-09       Impact factor: 38.330

3.  Histone deacetylase inhibitors upregulate B cell microRNAs that silence AID and Blimp-1 expression for epigenetic modulation of antibody and autoantibody responses.

Authors:  Clayton A White; Egest J Pone; Tonika Lam; Connie Tat; Ken L Hayama; Guideng Li; Hong Zan; Paolo Casali
Journal:  J Immunol       Date:  2014-11-12       Impact factor: 5.422

4.  [Genetics of common chronic inflammatory skin diseases : An update on atopic dermatitis and psoriasis].

Authors:  E Rodríguez; K Eyerich; S Weidinger
Journal:  Hautarzt       Date:  2011-02       Impact factor: 0.751

Review 5.  Unraveling the genetic component of systemic sclerosis.

Authors:  José Ezequiel Martín; Lara Bossini-Castillo; Javier Martín
Journal:  Hum Genet       Date:  2012-01-05       Impact factor: 4.132

6.  The autoimmune disease risk allele of UBE2L3 in African American patients with systemic lupus erythematosus: a recessive effect upon subphenotypes.

Authors:  Sandra Agik; Beverly S Franek; Akaash A Kumar; Marissa Kumabe; Tammy O Utset; Rachel A Mikolaitis; Meenakshi Jolly; Timothy B Niewold
Journal:  J Rheumatol       Date:  2011-11-01       Impact factor: 4.666

7.  Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis.

Authors:  Sharon A Chung; Gang Xie; Delnaz Roshandel; Richard Sherva; Jeffrey C Edberg; Megan Kravitz; Paul F Dellaripa; Gary S Hoffman; Alfred D Mahr; Philip Seo; Ulrich Specks; Robert F Spiera; E William St Clair; John H Stone; Robert M Plenge; Katherine A Siminovitch; Peter A Merkel; Paul A Monach
Journal:  Arthritis Rheum       Date:  2012-10

Review 8.  Immunology in the clinic review series; focus on type 1 diabetes and viruses: the innate immune response to enteroviruses and its possible role in regulating type 1 diabetes.

Authors:  K Lind; M H Hühn; M Flodström-Tullberg
Journal:  Clin Exp Immunol       Date:  2012-04       Impact factor: 4.330

9.  ATG5 regulates plasma cell differentiation.

Authors:  Kara L Conway; Petric Kuballa; Bernard Khor; Mei Zhang; Hai Ning Shi; Herbert W Virgin; Ramnik J Xavier
Journal:  Autophagy       Date:  2013-01-17       Impact factor: 16.016

10.  Association of a single nucleotide polymorphism in TNIP1 with type-1 autoimmune hepatitis in the Japanese population.

Authors:  Shomi Oka; Takashi Higuchi; Hiroshi Furukawa; Minoru Nakamura; Atsumasa Komori; Seigo Abiru; Shinya Nagaoka; Satoru Hashimoto; Atsushi Naganuma; Noriaki Naeshiro; Kaname Yoshizawa; Masaaki Shimada; Hideo Nishimura; Minoru Tomizawa; Masahiro Kikuchi; Fujio Makita; Haruhiro Yamashita; Keisuke Ario; Hiroshi Yatsuhashi; Shigeto Tohma; Aya Kawasaki; Naoyuki Tsuchiya; Kiyoshi Migita
Journal:  J Hum Genet       Date:  2018-03-20       Impact factor: 3.172

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