Role of Cytokines in Systemic Lupus Erythematosus: Recent Progress from GWAS and Sequencing

被引：19

作者：

Connolly, John J. ^{[1
]}

Hakonarson, Hakon ^{[1
,2
]}

机构：

[1] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

[2] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA

来源：

JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY | 2012年

关键词：

GENOME-WIDE ASSOCIATION; LYMPHOID TYROSINE PHOSPHATASE; AICARDI-GOUTIERES-SYNDROME; MAJOR HISTOCOMPATIBILITY COMPLEX; JUVENILE IDIOPATHIC ARTHRITIS; INTERFERON REGULATORY FACTOR; COPY NUMBER VARIATION; INFLAMMATORY-BOWEL-DISEASE; GAMMA RECEPTOR-IIA; HUMAN IL-10 LOCUS;

D O I：

10.1155/2012/798924

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Systemic lupus erythematosus (SLE) is a complex autoimmune disorder, known to have a strong genetic component. Concordance between monozygotic twins is approximately 30-40%, which is 8-20 times higher than that of dizygotic twins. In the last decade, genome-wide approaches to understanding SLE have yielded many candidate genes, which are important to understanding the pathophysiology of the disease and potential targets for pharmaceutical intervention. In this paper, we focus on the role of cytokines and examine how genome-wide association studies, copy number variation studies, and next-generation sequencing are being employed to understand the etiology of SLE. Prominent genes identified by these approaches include BLK, FC gamma R3B, and TREX1. Our goal is to present a brief overview of genomic approaches to SLE and to introduce some of the key discussion points pertinent to the field.

引用

页数：17

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