Progress in Understanding Type 1 Diabetes Through Its Genetic Overlap with Other Autoimmune Diseases

被引:18
|
作者
Roizen, Jeffrey D. [1 ,3 ]
Bradfield, Jonathan P. [2 ]
Hakonarson, Hakon [2 ,3 ,4 ]
机构
[1] Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19103 USA
[2] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA
[3] Childrens Hosp Philadelphia, Div Pulm Med, Philadelphia, PA 19104 USA
[4] Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA
关键词
Type 1 diabetes mellitus; Autoimmunity; Genomic; GWAS; ENCODE; GENOME-WIDE ASSOCIATION; PANCREAS-KIDNEY TRANSPLANTATION; SUSCEPTIBILITY LOCUS; RISK VARIANTS; T-CELLS; COLOCALIZATION; COMMON; EPIDEMIOLOGY; METAANALYSIS;
D O I
10.1007/s11892-015-0668-4
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Type 1 diabetes mellitus (T1DM) is the most common autoimmune disease in pediatrics with a prevalence of roughly 1 in 500 children in the USA. Genome-wide association studies have identified more than 50 variants associated with increased risk for type 1 diabetes. Comparison of these variants with those identified in other autoimmune diseases reveals three important findings: (1) there is a high degree of overlap in implicated variants in diseases with similar pathophysiology, (2) in diseases with differing pathophysiology the same variants are often implicated in opposite roles, (3) in diseases with differing pathophysiology that have many non-overlapping or oppositely implicated variants there are still several variants which are overlapping or shared. Thus, the genetic overlap between T1DM and other autoimmune diseases forms the basis for our understanding of druggable targets in type 1 diabetes.
引用
收藏
页数:7
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