Genetics of scleroderma: update on single nucleotide polymorphism analysis and microarrays

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Abstract
Recent family, twin, and genetic association studies suggest a genetic basis for the susceptibility to systemic sclerosis or scleroderma. The purpose of this review is to summarize the results of genetic association and gene expression profiling studies from January 2004 to May 2005. In the review period, only a handful reports on single nucleotide polymorphism analysis of candidate genes and transcriptional profiling have been published. Currently, single nucleotide polymorphism association studies in systemic sclerosis use small sample sizes and have low reproducibility. To detect associations with candidate genes that confer a modest relative risk for disease in the general population, studies are needed with much larger sample sizes that also account for the effects of population stratification. Candidate genes or pathways identified through microarrays can be explored as potential biomarkers, used for molecular phenotyping of systemic sclerosis, or targeted for future genetic association studies.