Analysis of systemic lupus erythematosus sub-phenotype data for genetic association

The purpose of this review is to summarise the current understanding of genetic associations with systemic lupus erythematosus (SLE) sub-phenotypes, and to discuss how improvement in statistical methodology and data quality will increase our understanding of SLE generally.

Recent studies of genetic association with SLE sub-phenotypes have found evidence of heterogeneity of effect over phenotype. These results suggest that the associations observed in many studies for the more general SLE outcome are a simplification of a complex multivariate genetic association.There has been some recent development in statistical methodology for the analysis of association across related phenotypes. These methodologies should be utilised more by the scientific community investigating SLE susceptibility loci as they are more powerful than simple case-control designs at detecting genetic effects that are heterogeneous across phenotypes.

A focus on sub-phenotype data will lead to a better understanding of the biology of disease as we can investigate what aspects of the disease are affected by particular genes. This will give us the opportunity to learn how genetics can contribute to better diagnosis and prognosis of complex disease.