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Genetics of scleroderma: update on single nucleotide polymorphism analysis and microarrays
Shervin Assassi1, Filemon K Tan
1Division of Rheumatology, Department of Internal Medicine, University of Texas-Houston Medical School, Houston, Texas 77030, USA. shervin.assassi@uth.tmc.edu
Current Opinion in Rheumatology
|October 15, 2005
Summary
Genetic studies suggest systemic sclerosis has a hereditary basis. However, current research on single nucleotide polymorphisms (SNPs) in systemic sclerosis (SSc) requires larger sample sizes for reproducibility and identifying modest genetic risks.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Family, twin, and genetic association studies indicate a genetic component to systemic sclerosis (SSc) susceptibility.
- The review focuses on genetic association and gene expression profiling studies published between January 2004 and May 2005.
Purpose of the Study:
- To summarize recent findings in the genetic basis of systemic sclerosis.
- To evaluate the state of genetic association and gene expression profiling in SSc research.
Main Methods:
- Review of published literature on genetic association studies (e.g., single nucleotide polymorphism analysis) and gene expression profiling in systemic sclerosis.
- Analysis of studies published from January 2004 to May 2005.
Main Results:
- Limited reports on single nucleotide polymorphism (SNP) analysis of candidate genes and transcriptional profiling were published during the review period.
- Existing SNP association studies in SSc are characterized by small sample sizes and low reproducibility.
Conclusions:
- Larger sample sizes and accounting for population stratification are crucial for detecting modest genetic risks in SSc.
- Microarray-identified candidate genes/pathways hold potential as biomarkers for molecular phenotyping or targets for future genetic association studies.