The genetics of systemic lupus erythematosus: understanding how SNPs confer disease susceptibility

ME Alarcón-Riquelme - Springer seminars in immunopathology, 2006 - Springer
Springer seminars in immunopathology, 2006Springer
The identification of genes for autoimmune diseases is just the first step towards our
understanding of disease pathogenesis. In investigating how mutations, deletions or other
types of polymorphic defects occur, it is important to determine the pathways and the
mechanisms through which susceptibility leads to disease. In this review I touch on three
examples of studies that have attempted to understand the mechanisms of genetic
susceptibility in three genes identified recently for systemic lupus erythematosus: PDCD1 …
Abstract
The identification of genes for autoimmune diseases is just the first step towards our understanding of disease pathogenesis. In investigating how mutations, deletions or other types of polymorphic defects occur, it is important to determine the pathways and the mechanisms through which susceptibility leads to disease. In this review I touch on three examples of studies that have attempted to understand the mechanisms of genetic susceptibility in three genes identified recently for systemic lupus erythematosus: PDCD1, PTPN22 and IRF5. We are just beginning to comprehend and much needs to be done.
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