Genetics of systemic sclerosis

被引:6
作者
Ishikawa, Yuki [1 ,2 ]
Terao, Chikashi [2 ,3 ,4 ]
机构
[1] Harvard Med Sch, Joslin Diabet Ctr, Boston, MA 02115 USA
[2] RIKEN, Ctr Integrat Med Sci, Lab Stat & Translat Genet, Yokohama, Kanagawa 2300045, Japan
[3] Shizuoka Prefectural Gen Hosp, Clin Res Ctr, Shizuoka, Japan
[4] Univ Shizuoka, Dept Appl Genet, Sch Pharmaceut Sci, Shizuoka, Japan
关键词
Systemic sclerosis; genetics; single-nucleotide polymorphism; genome-wide association study; candidate gene analysis; ImmunoChip analysis; genome-wide significance; non-human leukocyte antigen genes; human leukocyte antigen genes; GENOME-WIDE ASSOCIATION; RISK-FACTOR; SUSCEPTIBILITY LOCI; STAT4; DISEASE; IRF5; IDENTIFICATION; SCLERODERMA; EXPRESSION; POLYMORPHISMS;
D O I
10.1177/2397198320913695
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Systemic sclerosis is an autoimmune disease characterized by generalized fibrosis in connective tissues and internal organs as consequences of microvascular dysfunction and immune dysfunctions, which leads to premature death in affected individuals. The etiology of systemic sclerosis is complex and poorly understood, but as with most autoimmune diseases, it is widely accepted that both environmental and genetic factors contribute to disease risk. During the last decade, the number of genetic markers convincingly associated with systemic sclerosis has exponentially increased. In this article, we briefly mention the genetic components of systemic sclerosis. Then, we review the classical and novel genetic associations with systemic sclerosis, analyzing the firmest and replicated signals within non-human leukocyte antigen genes, identified by both candidate gene approach and genome-wide association studies. We also provide an insight into the future perspectives that will shed more light into the complex genetic background of the disease. Despite the remarkable advance of systemic sclerosis genetics during the last decade, the use of the new genetic technologies such as next-generation sequencing, as well as the deep phenotyping of the study cohorts, to fully characterize the genetic component of this disease is imperative to identify causal variants, which leads to more targeted and effective treatment of systemic sclerosis.
引用
收藏
页码:192 / 201
页数:10
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