Research Report 2019_20


Devin Absher and Jun Song of the Absher Lab are focused on understanding the role of epigenetics in autoimmune disease, specifically systemic lupus erythematosus (SLE) They found that epigenetic defects in female African American patients with SLE were already present in immature B cells emerging from the bone mar- row, whereas epigenetic defects in female European American patients with SLE appeared later in B cell development. Furthermore, they showed that CpGs near IFN- regulated genes are hypomethylated in African Amer- ican patients with SLE from the earliest circulating B cell stage, indicating that B cells might be epigeneti- cally “primed” for an aberrant immune response pri- or to maturation in SLE patients of African American ancestry. These epigenetic differences may explain the differences in disease presentation and severity between the ethnic groups as well. These studies add to the breadth of work from Absher’s lab that reinforce the importance of epigenetics in understanding human health and disease. Through the work of Absher and others at the Institute, Hudson- Alpha continues to contribute to the growing body of knowledge about epigenetics. n

In addition to affecting women at a higher rate than men, epidemiologic studies have revealed that SLE also affects African American women with greater frequency and severity than women of European and Asian ethnic- ities. Epigenetic dysregulation of B cell differentiation is thought to be an important mechanism underlying the pathogenesis of SLE, however, the majority of epi- genetic SLE studies to date have focused on European and Asian populations. Absher’s lab sought to remedy this deficiency in diverse data sets by studying African American women with SLE 2 . The team used various statistical and machine- learning methods to better understand the biologic changes that occur throughout B cell development in SLE patients and to discern any differences in these ef- fects between African American and European Ameri- can subjects. They analyzed whole-genome DNA meth- ylation data from B cell subsets in African American and European American females with and without SLE. Results from the study indicate that SLE- specific methylation patterns are ethnicity dependent.

2019-20 Research Report 19

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