Literature DB >> 26218512

Advances in lupus genetics.

Timothy B Niewold1.   

Abstract

PURPOSE OF REVIEW: The field of systemic lupus erythematosus (SLE) genetics has been advancing rapidly in recent years. This review will summarize recent advances in SLE genetics. RECENT
FINDINGS: Genome-wide-association and follow-up studies have greatly expanded the list of associated polymorphisms, and much current work strives to integrate these polymorphisms into immune system biology and the pathogenic mediators involved in the disease. This review covers some current areas of interest, including genetic studies in non-European SLE patient populations, studies of pathogenic immune system subphenotypes such as type I interferon and autoantibodies, and a rapidly growing body of work investigating the functional consequences of the genetic polymorphisms associated with SLE.
SUMMARY: These studies provide a fascinating window into human SLE disease biology. As the work proceeds from genetic association signal to altered human biology, we move closer to tailoring interventions based upon an individual's genetic substrate.

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Year:  2015        PMID: 26218512      PMCID: PMC4540605          DOI: 10.1097/BOR.0000000000000205

Source DB:  PubMed          Journal:  Curr Opin Rheumatol        ISSN: 1040-8711            Impact factor:   5.006


  76 in total

1.  Genetic ancestry, serum interferon-α activity, and autoantibodies in systemic lupus erythematosus.

Authors:  Kichul Ko; Beverly S Franek; Miranda Marion; Kenneth M Kaufman; Carl D Langefeld; John B Harley; Timothy B Niewold
Journal:  J Rheumatol       Date:  2012-04-15       Impact factor: 4.666

2.  Network analysis of associations between serum interferon-α activity, autoantibodies, and clinical features in systemic lupus erythematosus.

Authors:  Corinna E Weckerle; Beverly S Franek; Jennifer A Kelly; Marissa Kumabe; Rachel A Mikolaitis; Stephanie L Green; Tammy O Utset; Meenakshi Jolly; Judith A James; John B Harley; Timothy B Niewold
Journal:  Arthritis Rheum       Date:  2011-04

3.  PTPN22 and invasive bacterial disease.

Authors:  Stephen J Chapman; Chiea C Khor; Fredrik O Vannberg; Nicholas A Maskell; Christopher W H Davies; Emma L Hedley; Shelley Segal; Catrin E Moore; Kyle Knox; Nicholas P Day; Stephen H Gillespie; Derrick W Crook; Robert J O Davies; Adrian V S Hill
Journal:  Nat Genet       Date:  2006-05       Impact factor: 38.330

4.  PTPN22 alters the development of regulatory T cells in the thymus.

Authors:  Christian J Maine; Emma E Hamilton-Williams; Jocelyn Cheung; Stephanie M Stanford; Nunzio Bottini; Linda S Wicker; Linda A Sherman
Journal:  J Immunol       Date:  2012-04-25       Impact factor: 5.422

5.  A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.

Authors:  Robert R Graham; Sergey V Kozyrev; Emily C Baechler; M V Prasad Linga Reddy; Robert M Plenge; Jason W Bauer; Ward A Ortmann; Thearith Koeuth; Ma Francisca González Escribano; Bernardo Pons-Estel; Michelle Petri; Mark Daly; Peter K Gregersen; Javier Martín; David Altshuler; Timothy W Behrens; Marta E Alarcón-Riquelme
Journal:  Nat Genet       Date:  2006-04-16       Impact factor: 38.330

6.  Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS.

Authors:  Dan L Nicolae; Eric Gamazon; Wei Zhang; Shiwei Duan; M Eileen Dolan; Nancy J Cox
Journal:  PLoS Genet       Date:  2010-04-01       Impact factor: 5.917

7.  Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo.

Authors:  Silvia N Kariuki; Kyriakos A Kirou; Emma J MacDermott; Lilliana Barillas-Arias; Mary K Crow; Timothy B Niewold
Journal:  J Immunol       Date:  2009-01-01       Impact factor: 5.422

8.  Age- and gender-specific modulation of serum osteopontin and interferon-alpha by osteopontin genotype in systemic lupus erythematosus.

Authors:  S N Kariuki; J G Moore; K A Kirou; M K Crow; T O Utset; T B Niewold
Journal:  Genes Immun       Date:  2009-04-02       Impact factor: 2.676

9.  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

10.  Meta-analysis of the TNFAIP3 region in psoriasis reveals a risk haplotype that is distinct from other autoimmune diseases.

Authors:  J Nititham; K E Taylor; R Gupta; H Chen; R Ahn; J Liu; M Seielstad; A Ma; A M Bowcock; L A Criswell; M Stahle; W Liao
Journal:  Genes Immun       Date:  2014-12-18       Impact factor: 2.676

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  20 in total

Review 1.  The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus.

Authors:  Adam J Fike; Irina Elcheva; Ziaur S M Rahman
Journal:  Curr Rheumatol Rep       Date:  2019-01-23       Impact factor: 4.592

Review 2.  Understanding B-cell activation and autoantibody repertoire selection in systemic lupus erythematosus: A B-cell immunomics approach.

Authors:  Christopher M Tipton; Jennifer R Hom; Christopher F Fucile; Alexander F Rosenberg; Inaki Sanz
Journal:  Immunol Rev       Date:  2018-07       Impact factor: 12.988

3.  Connective tissue diseases: Targeting type I interferon in systemic lupus erythematosus.

Authors:  Timothy B Niewold
Journal:  Nat Rev Rheumatol       Date:  2016-05-26       Impact factor: 20.543

4.  Defining biological subsets in systemic lupus erythematosus: progress toward personalized therapy.

Authors:  Nailú Angélica Sinicato; Mariana Postal; Simone Appenzeller; Timothy B Niewold
Journal:  Pharmaceut Med       Date:  2017-01-25

5.  Screening characteristics for enrichment of individuals at higher risk for transitioning to classified SLE.

Authors:  K A Young; M E Munroe; J M Guthridge; D L Kamen; G S Gilkensen; J B Harley; M H Weisman; D R Karp; D J Wallace; J A James; J M Norris
Journal:  Lupus       Date:  2019-03-07       Impact factor: 2.911

Review 6.  Autoreactive B cells in SLE, villains or innocent bystanders?

Authors:  Jennie A Hamilton; Hui-Chen Hsu; John D Mountz
Journal:  Immunol Rev       Date:  2019-10-21       Impact factor: 12.988

7.  Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.

Authors:  Erkan Demirkaya; Qing Zhou; Carolyne K Smith; Michael J Ombrello; Natalie Deuitch; Wanxia L Tsai; Patrycja Hoffmann; Elaine F Remmers; Masaki Takeuchi; Yong Hwan Park; JaeJin Chae; Kenan Barut; Dogan Simsek; Amra Adrovic; Sezgin Sahin; Salim Caliskan; Settara C Chandrasekharappa; Sarfaraz A Hasni; Amanda K Ombrello; Massimo Gadina; Daniel L Kastner; Mariana J Kaplan; Ozgur Kasapcopur; Ivona Aksentijevich
Journal:  Arthritis Rheumatol       Date:  2017-07-10       Impact factor: 10.995

8.  Intrinsic DNA topology as a prioritization metric in genomic fine-mapping studies.

Authors:  Hannah C Ainsworth; Timothy D Howard; Carl D Langefeld
Journal:  Nucleic Acids Res       Date:  2020-11-18       Impact factor: 16.971

9.  Dysregulation of innate and adaptive serum mediators precedes systemic lupus erythematosus classification and improves prognostic accuracy of autoantibodies.

Authors:  Rufei Lu; Melissa E Munroe; Joel M Guthridge; Krista M Bean; Dustin A Fife; Hua Chen; Samantha R Slight-Webb; Michael P Keith; John B Harley; Judith A James
Journal:  J Autoimmun       Date:  2016-06-20       Impact factor: 7.094

Review 10.  Lessons from precision medicine in rheumatology.

Authors:  Theresa L Wampler Muskardin; Jacqueline L Paredes; Simone Appenzeller; Timothy B Niewold
Journal:  Mult Scler       Date:  2020-01-22       Impact factor: 6.312

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