Divisions of Genetics and Molecular Medicine and Immunology, Infection and Inflammatory Disease Department of Medical and Molecular Genetics, Kings College, London, UK.
Curr Opin Rheumatol. 2012 Sep;24(5):482-8. doi: 10.1097/BOR.0b013e3283562282.
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.
目的综述： 本文旨在总结目前关于系统性红斑狼疮（SLE）亚表型遗传关联的研究进展，并讨论统计方法和数据质量的改进将如何提高我们对 SLE 的总体认识。
最近发现： 最近关于 SLE 亚表型遗传关联的研究发现，表型之间的效应存在异质性。这些结果表明，在许多研究中观察到的与更普遍的 SLE 结果相关的关联是对复杂多变量遗传关联的简化。在相关表型关联分析的统计方法方面，最近有一些进展。由于这些方法比简单的病例对照设计更能检测表型之间存在异质性的遗传效应，因此，调查 SLE 易感性位点的科学界应更多地利用这些方法。
总结： 关注亚表型数据将使我们更好地了解疾病的生物学特性，因为我们可以研究特定基因影响疾病的哪些方面。这将使我们有机会了解遗传学如何有助于复杂疾病的更好诊断和预后。
