Document Detail

The genetics of scleroderma: looking into the postgenomic era.
MedLine Citation:
PMID:  23026857     Owner:  NLM     Status:  MEDLINE    
PURPOSE OF REVIEW: The last decade has seen enormous progress in understanding genetic associations of systemic sclerosis to explain the observed heritability. This review highlights the most recent findings and places them in the context of proposed functional roles.
RECENT FINDINGS: Over 30 genes and gene regions have now been identified as scleroderma susceptibility loci. These include both human leukocyte antigen (HLA) and non-HLA genes, most of which involve immune-related pathways and modifiers of immune function. Many of these associations have also been reported in other systemic autoimmune diseases and suggest that there are multiple autoimmunity genes resulting in disease occurrence.
SUMMARY: In spite of these advances, only a small proportion of the heritability of systemic sclerosis has been explained. Ongoing studies include fine mapping and sequencing studies to identify causal variants, whereas other studies focus on functional consequences of these variants in order to identify the link between these genetic variants and disease susceptibility. Such knowledge should lead to more targeted and effective treatment in this disease.
Maureen D Mayes
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Current opinion in rheumatology     Volume:  24     ISSN:  1531-6963     ISO Abbreviation:  Curr Opin Rheumatol     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-10-02     Completed Date:  2013-02-19     Revised Date:  2014-04-08    
Medline Journal Info:
Nlm Unique ID:  9000851     Medline TA:  Curr Opin Rheumatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  677-84     Citation Subset:  IM    
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MeSH Terms
Genetic Predisposition to Disease*
Genome-Wide Association Study
Genomics / methods*
HLA Antigens / genetics*
Molecular Targeted Therapy
Polymorphism, Single Nucleotide
Scleroderma, Systemic / genetics*,  therapy
Grant Support
Reg. No./Substance:
0/HLA Antigens

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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