Document Detail


The genetics of scleroderma: looking into the postgenomic era.
MedLine Citation:
PMID:  23026857     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Maureen D Mayes
Related Documents :
24549617 - Nucleotide kinase-based selection system for genetic switches.
11458707 - Familial orthostatic tachycardia due to norepinephrine transporter deficiency.
16923137 - Dominant dystrophic epidermolysis bullosa caused by a novel g2037r mutation and by a kn...
17875077 - Mutations in type i collagen genes in japanese osteogenesis imperfecta patients.
9455497 - Hla-b alleles associated with the b15 serologically defined antigens.
20935117 - Variability of bartonella genotypes among small mammals in spain.
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Genetic Predisposition to Disease*
Genome-Wide Association Study
Genomics / methods*
HLA Antigens / genetics*
Humans
Molecular Targeted Therapy
Polymorphism, Single Nucleotide
Scleroderma, Systemic / genetics*,  therapy
Grant Support
ID/Acronym/Agency:
R01 AR055258/AR/NIAMS NIH HHS
Chemical
Reg. No./Substance:
0/HLA Antigens
Comments/Corrections

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


Previous Document:  Long-term Outcomes of Pandemic 2009 Influenza A(H1N1)-Associated Severe ARDS.
Next Document:  Cerebrospinal fluid biomarkers in neurological diseases in children.