Genetics and Epigenetics of Systemic Lupus Erythematosus

被引:53
|
作者
Costa-Reis, Patricia [1 ,2 ,3 ]
Sullivan, Kathleen E. [1 ,2 ]
机构
[1] Childrens Hosp Philadelphia, Abramson Res Ctr 1214, Philadelphia, PA 19104 USA
[2] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA
[3] Univ Lisbon, Fac Med, P-1699 Lisbon, Portugal
关键词
Lupus; Systemic lupus erythematosus; SLE; Genetics; Epigenetics; Autoimmune diseases; CHRONIC GRANULOMATOUS-DISEASE; INTERFERON-ALPHA ACTIVITY; GENOME-WIDE ASSOCIATION; I INTERFERON; RISK-FACTOR; FC-GAMMA-RIIIA-158F ALLELE; FUNCTIONAL VARIANTS; SUSCEPTIBILITY LOCI; REGULATORY FACTOR-5; CONFERS RISK;
D O I
10.1007/s11926-013-0369-4
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Genetics unquestionably contributes to systemic lupus erythematosus (SLE) predisposition, progression and outcome. Nevertheless, single-gene defects causing lupus-like phenotypes have been infrequently documented. The majority of the identified genetic SLE risk factors are, therefore, common variants, responsible for a small effect on the global risk. Recently, genome wide association studies led to the identification of a growing number of gene variants associated with SLE susceptibility, particular disease phenotypes, and antibody profiles. Further studies addressed the biological effects of these variants. In addition, the role of epigenetics has recently been revealed. These combined efforts contributed to a better understanding of SLE pathogenesis and to the characterization of clinically relevant pathways. In this review, we describe SLE-associated single-gene defects, common variants, and epigenetic changes. We also discuss the limitations of currentmethods and the challenges that we still have to face in order to incorporate genomic and epigenomic data into clinical practice.
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页数:9
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