Literature DB >> 25034154

Clinical perspectives on lupus genetics: advances and opportunities.

Judith A James1.   

Abstract

In recent years, genome-wide association studies have led to an expansion in the identification of regions containing confirmed genetic risk variants within complex human diseases, such as systemic lupus erythematosus (SLE). Many of the strongest SLE genetic associations can be divided into groups based on their potential roles in different processes implicated in lupus pathogenesis, including ubiquitination, DNA degradation, innate immunity, cellular immunity, lymphocyte development, and antigen presentation. Recent advances have also shown several genetic associations with SLE subphenotypes and subcriteria. Many areas for further exploration remain to move lupus genetic studies toward clinically informative end points.
Copyright © 2014 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Autoantibodies; Clinical subphenotypes; GWAS; Genetics; Lupus; Nephritis; SLE

Mesh:

Year:  2014        PMID: 25034154      PMCID: PMC4104419          DOI: 10.1016/j.rdc.2014.04.002

Source DB:  PubMed          Journal:  Rheum Dis Clin North Am        ISSN: 0889-857X            Impact factor:   2.670


  149 in total

1.  Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene.

Authors:  S E Löfgren; J Frostegård; L Truedsson; B A Pons-Estel; S D'Alfonso; T Witte; B R Lauwerys; E Endreffy; L Kovács; C Vasconcelos; B Martins da Silva; S V Kozyrev; M E Alarcón-Riquelme
Journal:  Genes Immun       Date:  2012-01-05       Impact factor: 2.676

2.  Association of PHRF1-IRF7 region polymorphism with clinical manifestations of systemic lupus erythematosus in a Japanese population.

Authors:  A Kawasaki; H Furukawa; Y Kondo; S Ito; T Hayashi; M Kusaoi; I Matsumoto; S Tohma; Y Takasaki; H Hashimoto; T Sumida; N Tsuchiya
Journal:  Lupus       Date:  2012-03-20       Impact factor: 2.911

3.  Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis.

Authors:  C P Lin; I Adrianto; C J Lessard; J A Kelly; K M Kaufman; J M Guthridge; B I Freedman; J-M Anaya; M E Alarcón-Riquelme; B A Pons-Estel; J Martin; S Glenn; A Adler; S-C Bae; S-Y Park; S-Y Bang; Y-W Song; S A Boackle; E E Brown; J C Edberg; G S Alarcón; M A Petri; L A Criswell; R Ramsey-Goldman; J D Reveille; L M Vila; G S Gilkeson; D L Kamen; J Ziegler; C O Jacob; A Rasmussen; J A James; R P Kimberly; J T Merrill; T B Niewold; R H Scofield; A M Stevens; B P Tsao; T J Vyse; C D Langefeld; K L Moser; J B Harley; P M Gaffney; C G Montgomery
Journal:  Genes Immun       Date:  2011-12-22       Impact factor: 2.676

4.  Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study.

Authors:  Christopher J Lessard; Indra Adrianto; John A Ice; Graham B Wiley; Jennifer A Kelly; Stuart B Glenn; Adam J Adler; He Li; Astrid Rasmussen; Adrienne H Williams; Julie Ziegler; Mary E Comeau; Miranda Marion; Benjamin E Wakeland; Chaoying Liang; Paula S Ramos; Kiely M Grundahl; Caroline J Gallant; Marta E Alarcón-Riquelme; Graciela S Alarcón; Juan-Manuel Anaya; Sang-Cheol Bae; Susan A Boackle; Elizabeth E Brown; Deh-Ming Chang; Soo-Kyung Cho; Lindsey A Criswell; Jeffrey C Edberg; Barry I Freedman; Gary S Gilkeson; Chaim O Jacob; Judith A James; Diane L Kamen; Robert P Kimberly; Jae-Hoon Kim; Javier Martin; Joan T Merrill; Timothy B Niewold; So-Yeon Park; Michelle A Petri; Bernardo A Pons-Estel; Rosalind Ramsey-Goldman; John D Reveille; R Hal Scofield; Yeong Wook Song; Anne M Stevens; Betty P Tsao; Luis M Vila; Timothy J Vyse; Chack-Yung Yu; Joel M Guthridge; Kenneth M Kaufman; John B Harley; Edward K Wakeland; Carl D Langefeld; Patrick M Gaffney; Courtney G Montgomery; Kathy L Moser
Journal:  Am J Hum Genet       Date:  2012-03-29       Impact factor: 11.025

5.  Association study of C1qA polymorphisms with systemic lupus erythematosus in a Han population.

Authors:  C-W Cao; P Li; H-X Luan; W Chen; C-H Li; C-J Hu; S-L Zhang; X-F Zeng; F-C Zhang; Y-Z Li; C-Q Zeng
Journal:  Lupus       Date:  2012-01-11       Impact factor: 2.911

Review 6.  Associations between TLR polymorphisms and systemic lupus erythematosus: a systematic review and meta-analysis.

Authors:  Young Ho Lee; Hye-Soon Lee; Sung Jae Choi; Jong Dae Ji; Gwan Gyu Song
Journal:  Clin Exp Rheumatol       Date:  2012-04-13       Impact factor: 4.473

7.  Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.

Authors:  Angélica M Delgado-Vega; Mikhail G Dozmorov; Manuel Bernal Quirós; Ying-Yu Wu; Belén Martínez-García; Sergey V Kozyrev; Johan Frostegård; Lennart Truedsson; Enrique de Ramón; María F González-Escribano; Norberto Ortego-Centeno; Bernardo A Pons-Estel; Sandra D'Alfonso; Gian Domenico Sebastiani; Torsten Witte; Bernard R Lauwerys; Emoke Endreffy; László Kovács; Carlos Vasconcelos; Berta Martins da Silva; Jonathan D Wren; Javier Martin; Casimiro Castillejo-López; Marta E Alarcón-Riquelme
Journal:  Ann Rheum Dis       Date:  2012-07       Impact factor: 19.103

Review 8.  Gender differences in the pathogenesis and outcome of lupus and of lupus nephritis.

Authors:  Julie Schwartzman-Morris; Chaim Putterman
Journal:  Clin Dev Immunol       Date:  2012-05-29

9.  Transancestral mapping of the MHC region in systemic lupus erythematosus identifies new independent and interacting loci at MSH5, HLA-DPB1 and HLA-G.

Authors:  Michelle M A Fernando; Jan Freudenberg; Annette Lee; David Lester Morris; Lora Boteva; Benjamin Rhodes; María Francisca Gonzalez-Escribano; Miguel Angel Lopez-Nevot; Sandra V Navarra; Peter K Gregersen; Javier Martin; Timothy J Vyse
Journal:  Ann Rheum Dis       Date:  2012-01-10       Impact factor: 19.103

10.  Replicated associations of TNFAIP3, TNIP1 and ETS1 with systemic lupus erythematosus in a southwestern Chinese population.

Authors:  Hua Zhong; Xiao-lan Li; Ming Li; Li-xia Hao; Rong-wei Chen; Kun Xiang; Xue-bin Qi; Runlin Z Ma; Bing Su
Journal:  Arthritis Res Ther       Date:  2011-11-16       Impact factor: 5.156

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