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

被引：49

作者：

Vaughn, Samuel E. ^{[1
,2
]}

Kottyan, Leah C. ^{[1
]}

Munroe, Melissa E. ^{[3
]}

Harley, John B. ^{[1
]}

机构：

[1] Cincinnati Childrens Hosp, Med Ctr, Cincinnati, OH 45229 USA

[2] Univ Cincinnati, Med Scientist Training Program, Cincinnati, OH USA

[3] Oklahoma Med Res Fdn, Oklahoma City, OK 73104 USA

来源：

JOURNAL OF LEUKOCYTE BIOLOGY | 2012年 / 92卷 / 03期

基金：

美国国家卫生研究院;

关键词：

LYN; BLK; BANK1; PTPN22; TNFAIP3; TNIP1; NF-KAPPA-B; LYMPHOID TYROSINE PHOSPHATASE; ERYTHEMATOSUS-LIKE SYNDROME; GENOME-WIDE ASSOCIATION; LYN-DEFICIENT MICE; RHEUMATOID-ARTHRITIS; AUTOIMMUNE-DISEASE; FUNCTIONAL VARIANT; COMPLEMENT DEFICIENCY; REVISED CRITERIA;

D O I：

10.1189/jlb.0212095

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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. J. Leukoc. Biol. 92: 577-591; 2012.

引用

页码：577 / 591

页数：15

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