The genetics of scleroderma: looking into the postgenomic era.

ABSTRACT:

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 heritabili

SUBMITTER: Mayes MD 

PROVIDER: S-EPMC3678376 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature