Recent findings on genetics of systemic autoimmune diseases

被引:68
作者
Delgado-Vega, Angelica [1 ]
Sanchez, Elena
Lofgren, Sara [1 ]
Castillejo-Lopez, Casimiro [1 ]
Alarcon-Riquelme, Marta E. [1 ,2 ,3 ]
机构
[1] Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, S-75185 Uppsala, Sweden
[2] Oklahoma Med Res Fdn, Arthrit & Immunol Program, Oklahoma City, OK 73104 USA
[3] Univ Granada, Ctr Genom & Oncol Res Pfizer, Granada 18007, Spain
基金
瑞典研究理事会;
关键词
GENOME-WIDE ASSOCIATION; RHEUMATOID-ARTHRITIS; LUPUS-ERYTHEMATOSUS; SUSCEPTIBILITY VARIANTS; FUNCTIONAL POLYMORPHISM; RISK LOCUS; REGION; SCLEROSIS; REPLICATION; TNFSF4;
D O I
10.1016/j.coi.2010.09.002
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Association studies of over 1 million SNPs capturing most of the human genome common variation became possible thanks to the information provided by the HapMap International project and the development of high-throughput genotyping technologies at accessible prices. Genome-wide scans analyzing thousands of individuals have now identified most if not all of the major genes involved in susceptibility for several systemic autoimmune diseases. In particular, results for rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and systemic sclerosis (SSc) are reviewed here. While most genes are shared between diseases, few seem to be unique reflecting that we still are long before knowing all genes, their interactions with other genes and the environment and their impact on biological functions.
引用
收藏
页码:698 / 705
页数:8
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