Genetics and Epigenetics of Systemic Lupus Erythematosus
被引:53
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作者:
Costa-Reis, Patricia
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机构:
Childrens Hosp Philadelphia, Abramson Res Ctr 1214, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA
Univ Lisbon, Fac Med, P-1699 Lisbon, PortugalChildrens Hosp Philadelphia, Abramson Res Ctr 1214, Philadelphia, PA 19104 USA
Costa-Reis, Patricia
[1
,2
,3
]
Sullivan, Kathleen E.
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Childrens Hosp Philadelphia, Abramson Res Ctr 1214, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Abramson Res Ctr 1214, Philadelphia, PA 19104 USA
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
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.
机构:
Department of Rheumatology, Renji Hospital, Shanghai Second Medical University, Shanghai 200001, ChinaDepartment of Rheumatology, Renji Hospital, Shanghai Second Medical University, Shanghai 200001, China
Feng, Xuebing
Chen, Sunle
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Department of Rheumatology, Renji Hospital, Shanghai Second Medical University, Shanghai 200001, ChinaDepartment of Rheumatology, Renji Hospital, Shanghai Second Medical University, Shanghai 200001, China
Chen, Sunle
Shen, Nan
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Department of Rheumatology, Renji Hospital, Shanghai Second Medical University, Shanghai 200001, ChinaDepartment of Rheumatology, Renji Hospital, Shanghai Second Medical University, Shanghai 200001, China
机构:
Univ Calif Los Angeles, Sch Med, Dept Med, Div Rheumatol, Los Angeles, CA 90095 USAUniv Calif Los Angeles, Sch Med, Dept Med, Div Rheumatol, Los Angeles, CA 90095 USA
机构:
Hosp Sick Children, Toronto, ON, CanadaHosp Sick Children, Toronto, ON, Canada
Carlomagno, Raffaella
Liao, Fangming
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Hosp Sick Children, Toronto, ON, CanadaHosp Sick Children, Toronto, ON, Canada
Liao, Fangming
Cao, Jingjing
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Hosp Sick Children, Toronto, ON, CanadaHosp Sick Children, Toronto, ON, Canada
Cao, Jingjing
Gladman, Dafna
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Toronto Western Hosp, Krembil Res Inst, Toronto, ON, CanadaHosp Sick Children, Toronto, ON, Canada
Gladman, Dafna
Klein-Gitelman, Marisa
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机构:
Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USAHosp Sick Children, Toronto, ON, Canada
Klein-Gitelman, Marisa
Knight, Andrea
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机构:
Hosp Sick Children, Toronto, ON, Canada
Univ Toronto, Toronto, ON, CanadaHosp Sick Children, Toronto, ON, Canada
Knight, Andrea
Levy, Deborah
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机构:
Univ Toronto, SickKids Hosp Fac Med, Div Rheumatol, Toronto, ON, CanadaHosp Sick Children, Toronto, ON, Canada
Levy, Deborah
Onel, Karen
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机构:
Hosp Special Surg, 535 E 70th St, New York, NY 10021 USAHosp Sick Children, Toronto, ON, Canada
Onel, Karen
Paterson, Andrew
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Hosp Sick Children, Toronto, ON, CanadaHosp Sick Children, Toronto, ON, Canada
Paterson, Andrew
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Peschken, Christine
Pope, Janet
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Univ Western Ontario, London, ON, CanadaHosp Sick Children, Toronto, ON, Canada
Pope, Janet
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Touma, Zahi
Urowitz, Murray
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机构:
Univ Toronto, Toronto, ON, CanadaHosp Sick Children, Toronto, ON, Canada
Urowitz, Murray
Webber, Declan
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机构:
Univ Toronto, Toronto, ON, CanadaHosp Sick Children, Toronto, ON, Canada
Webber, Declan
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Wither, Joan
Silverman, Earl
论文数: 0引用数: 0
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机构:
Hosp Sick Children, Div Rheumatol, Toronto, ON, Canada
Univ Toronto, SickKids Res Inst, Div Translat Med & Genet, Toronto, ON, CanadaHosp Sick Children, Toronto, ON, Canada
Silverman, Earl
Hiraki, Linda
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机构:
Hosp Sick Children, Div Rheumatol, Toronto, ON, Canada
Univ Toronto, SickKids Res Inst, Div Genet, Toronto, ON, Canada
Univ Toronto, Fac Med, Toronto, ON, CanadaHosp Sick Children, Toronto, ON, Canada