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Literature DB >> 22753952

Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways.

Samuel E Vaughn¹, Leah C Kottyan, Melissa E Munroe, John B Harley.

Abstract

Over 50 genetic variants have been statistically associated with the development of SLE (or lupus). Each genetic association is a key component of a pathway to lupus pathogenesis, the majority of which requires further mechanistic studies to understand the functional changes to cellular physiology. Whereas their use in clinical practice has yet to be established, these genes guide efforts to develop more specific therapeutic approaches. The BCR signaling pathways are rich in lupus susceptibility genes and may well provide novel opportunities for the understanding and clinical treatment of this complex disease.

Entities: Disease Mutation

Mesh：

Substances：

Year: 2012 PMID： 22753952 PMCID： PMC3748338 DOI： 10.1189/jlb.0212095

Source DB: PubMed Journal: J Leukoc Biol ISSN： 0741-5400 Impact factor: 4.962

158 in total

1. ABIN1 protein cooperates with TAX1BP1 and A20 proteins to inhibit antiviral signaling.

Authors: Linlin Gao; Helen Coope; Susan Grant; Averil Ma; Steven C Ley; Edward W Harhaj
Journal: J Biol Chem Date: 2011-09-01 Impact factor: 5.157

2. A common SNP in the CD40 region is associated with systemic lupus erythematosus and correlates with altered CD40 expression: implications for the pathogenesis.

Authors: Vassilios M Vazgiourakis; Maria I Zervou; Christianna Choulaki; George Bertsias; Maria Melissourgaki; Neslihan Yilmaz; Prodromos Sidiropoulos; Darren Plant; Leendert A Trouw; Rene E Toes; Dimitris Kardassis; Sule Yavuz; Dimitrios T Boumpas; George N Goulielmos
Journal: Ann Rheum Dis Date: 2011-09-12 Impact factor: 19.103

3. Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets.

Authors: Xinli Hu; Hyun Kim; Eli Stahl; Robert Plenge; Mark Daly; Soumya Raychaudhuri
Journal: Am J Hum Genet Date: 2011-09-29 Impact factor: 11.025

4. The PTPN22 allele encoding an R620W variant interferes with the removal of developing autoreactive B cells in humans.

Authors: Laurence Menard; David Saadoun; Isabelle Isnardi; Yen-Shing Ng; Greta Meyers; Christopher Massad; Christina Price; Clara Abraham; Roja Motaghedi; Jane H Buckner; Peter K Gregersen; Eric Meffre
Journal: J Clin Invest Date: 2011-08-01 Impact factor: 14.808

5. Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study.

Authors: Elena Sánchez; Mary E Comeau; Barry I Freedman; Jennifer A Kelly; Kenneth M Kaufman; Carl D Langefeld; Elizabeth E Brown; Graciela S Alarcón; Robert P Kimberly; Jeffrey C Edberg; Rosalind Ramsey-Goldman; Michelle Petri; John D Reveille; Luis M Vilá; Joan T Merrill; Betty P Tsao; Diane L Kamen; Gary S Gilkeson; Judith A James; Timothy J Vyse; Patrick M Gaffney; Chaim O Jacob; Timothy B Niewold; Bruce C Richardson; John B Harley; Marta E Alarcón-Riquelme; Amr H Sawalha
Journal: Arthritis Rheum Date: 2011-11

6. Direct, noncatalytic mechanism of IKK inhibition by A20.

Authors: Brian Skaug; Jueqi Chen; Fenghe Du; Jin He; Averil Ma; Zhijian J Chen
Journal: Mol Cell Date: 2011-11-18 Impact factor: 17.970

7. Polyubiquitin binding to ABIN1 is required to prevent autoimmunity.

Authors: Sambit K Nanda; Ram K C Venigalla; Alban Ordureau; Janet C Patterson-Kane; David W Powell; Rachel Toth; J Simon C Arthur; Philip Cohen
Journal: J Exp Med Date: 2011-05-23 Impact factor: 14.307

8. A functional variant in microRNA-146a promoter modulates its expression and confers disease risk for systemic lupus erythematosus.

Authors: Xiaobing Luo; Wanling Yang; Dong-Qing Ye; Huijuan Cui; Yan Zhang; Nattiya Hirankarn; Xiaoxia Qian; Yuanjia Tang; Yu Lung Lau; Niek de Vries; Paul Peter Tak; Betty P Tsao; Nan Shen
Journal: PLoS Genet Date: 2011-06-30 Impact factor: 5.917

9. Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus.

Authors: Deborah S Cunninghame Graham; David L Morris; Tushar R Bhangale; Lindsey A Criswell; Ann-Christine Syvänen; Lars Rönnblom; Timothy W Behrens; Robert R Graham; Timothy J Vyse
Journal: PLoS Genet Date: 2011-10-27 Impact factor: 5.917

10. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

Authors: Gosia Trynka; Karen A Hunt; Nicholas A Bockett; Jihane Romanos; Vanisha Mistry; Agata Szperl; Sjoerd F Bakker; Maria Teresa Bardella; Leena Bhaw-Rosun; Gemma Castillejo; Emilio G de la Concha; Rodrigo Coutinho de Almeida; Kerith-Rae M Dias; Cleo C van Diemen; Patrick C A Dubois; Richard H Duerr; Sarah Edkins; Lude Franke; Karin Fransen; Javier Gutierrez; Graham A R Heap; Barbara Hrdlickova; Sarah Hunt; Leticia Plaza Izurieta; Valentina Izzo; Leo A B Joosten; Cordelia Langford; Maria Cristina Mazzilli; Charles A Mein; Vandana Midah; Mitja Mitrovic; Barbara Mora; Marinita Morelli; Sarah Nutland; Concepción Núñez; Suna Onengut-Gumuscu; Kerra Pearce; Mathieu Platteel; Isabel Polanco; Simon Potter; Carmen Ribes-Koninckx; Isis Ricaño-Ponce; Stephen S Rich; Anna Rybak; José Luis Santiago; Sabyasachi Senapati; Ajit Sood; Hania Szajewska; Riccardo Troncone; Jezabel Varadé; Chris Wallace; Victorien M Wolters; Alexandra Zhernakova; B K Thelma; Bozena Cukrowska; Elena Urcelay; Jose Ramon Bilbao; M Luisa Mearin; Donatella Barisani; Jeffrey C Barrett; Vincent Plagnol; Panos Deloukas; Cisca Wijmenga; David A van Heel
Journal: Nat Genet Date: 2011-11-06 Impact factor: 38.330

28 in total

1. Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.

Authors: F Yesim Demirci; Xingbin Wang; Jennifer A Kelly; David L Morris; M Michael Barmada; Eleanor Feingold; Amy H Kao; Kathy L Sivils; Sasha Bernatsky; Christian Pineau; Ann E Clarke; Rosalind Ramsey-Goldman; Timothy J Vyse; Patrick M Gaffney; Susan Manzi; M Ilyas Kamboh
Journal: Arthritis Rheumatol Date: 2016-01 Impact factor: 10.995

Review 2. Contribution of B-1a cells to systemic lupus erythematosus in the NZM2410 mouse model.

Authors: Zhiwei Xu; Laurence Morel
Journal: Ann N Y Acad Sci Date: 2015-02-26 Impact factor: 5.691

Review 3. Microarray to deep sequencing: transcriptome and miRNA profiling to elucidate molecular pathways in systemic lupus erythematosus.

Authors: Geeta Rai; Richa Rai; Amir Hossein Saeidian; Madhukar Rai
Journal: Immunol Res Date: 2016-02 Impact factor: 2.829

Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways.

1. ABIN1 protein cooperates with TAX1BP1 and A20 proteins to inhibit antiviral signaling.

2. A common SNP in the CD40 region is associated with systemic lupus erythematosus and correlates with altered CD40 expression: implications for the pathogenesis.

3. Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets.

4. The PTPN22 allele encoding an R620W variant interferes with the removal of developing autoreactive B cells in humans.

5. Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study.

6. Direct, noncatalytic mechanism of IKK inhibition by A20.

7. Polyubiquitin binding to ABIN1 is required to prevent autoimmunity.

8. A functional variant in microRNA-146a promoter modulates its expression and confers disease risk for systemic lupus erythematosus.

9. Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus.

10. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

1. Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.

Review 2. Contribution of B-1a cells to systemic lupus erythematosus in the NZM2410 mouse model.

Review 3. Microarray to deep sequencing: transcriptome and miRNA profiling to elucidate molecular pathways in systemic lupus erythematosus.

Review 4. Rationale for B cell targeting in SLE.

Review 5. Genetics and pathogenesis of systemic lupus erythematosus and lupus nephritis.

Review 6. MicroRNAs--novel regulators of systemic lupus erythematosus pathogenesis.

Review 7. Environmental influences on systemic lupus erythematosus expression.

Review 8. Chance, genetics, and the heterogeneity of disease and pathogenesis in systemic lupus erythematosus.

Review 9. Genetics and epigenetics of systemic lupus erythematosus.

10. Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus.