Type 1 diabetes genetic susceptibility markers and their functional implications
Journal of Genetic Medicine
; : 1-10, 2014.
Article
in En
| WPRIM
| ID: wpr-7135
Responsible library:
WPRO
ABSTRACT
Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by selective destruction of pancreatic beta-cells resulting in insulin deficiency. The genetic determinants of T1D susceptibility have been linked to several loci, in particular to the human leukocyte antigen (HLA) region, which accounts for 50% of the genetic risk of developing T1D. Multiple genes in the HLA region, which are in strong linkage disequilibrium, are thought to be involved. Another important locus, with a smaller effect on genetic predisposition to T1D, is the insulin gene. The advent of numerous single nucleotide polymorphism markers and genome screening has enabled the identification of dozens of new T1D susceptibility loci. Some of them appear to predispose to T1D independently of the HLA and may be important in families with T1D who lack strong HLA susceptibility. Other loci may interact with each other to cause susceptibility. The autoimmune response against beta-cells can also be triggered by environmental factors in the presence of a predisposing genetic background. Deciphering the environmental and genetic factors involved should help to understand the origin of T1D and aid in the design of individualized prevention programs.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Autoimmune Diseases
/
Autoimmunity
/
Linkage Disequilibrium
/
Mass Screening
/
Genome
/
Genetic Predisposition to Disease
/
Polymorphism, Single Nucleotide
/
Diabetes Mellitus, Type 1
/
Genetics
/
HLA Antigens
Type of study:
Prognostic_studies
/
Screening_studies
Limits:
Humans
Language:
En
Journal:
Journal of Genetic Medicine
Year:
2014
Document type:
Article