Social Factors, Epigenomics and Lupus in African American Women (SELA) Study: protocol for an observational mechanistic study examining the interplay of multiple individual and social factors on lupus outcomes in a health disparity population

Abstract

IntroductionDespite the disproportional impact of SLE on historically marginalised communities, the individual and sociocultural factors underlying these health disparities remain elusive. We report the design and methods for a study aimed at identifying epigenetic biomarkers associated with racism and resiliency that affect gene function and thereby influence SLE in a health disparity population.Methods and analysisThe Social Factors, Epigenomics and Lupus in African American Women (SELA) Study is a cross-sectional, case–control study. A total of 600 self-reported African American women will be invited to participate. All participants will respond to questionnaires that capture detailed sociodemographic and medical history, validated measures of racial discrimination, social support, as well as disease activity and damage for cases. Participants who wish will receive their genetic ancestry estimates and be involved in research. Blood samples are required to provide peripheral blood mononuclear cell counts, DNA and RNA. The primary goals of SELA are to identify variation in DNA methylation (DNAm) associated with self-reported exposure to racial discrimination and social support, to evaluate whether social DNAm sites affect gene expression, to identify the synergistic effects of social factors on DNAm changes on SLE and to develop a social factors-DNAm predictive model for disease outcomes. This study is conducted in cooperation with the Sea Island Families Project Citizen Advisory Committee.Discussion and disseminationSELA will respond to the pressing need to clarify the interplay and regulatory mechanism by which various positive and negative social exposures influence SLE. Results will be published and shared with patients and the community. Knowledge of the biological impact of social exposures on SLE, as informed by the results of this study, can be leveraged by advocacy efforts to develop psychosocial interventions that prevent or mitigate risk exposures, and services or interventions that promote positive exposures. Implementation of such interventions is paramount to the closure of the health disparities gap.

Unraveling Complexity: A Case of Possible Overlapping Between Mixed Connective Tissue Disease and Systemic Lupus Erythematosus With Renal Involvement

“…Systemic lupus erythematosus (SLE) is an autoimmune disease that manifests with varying degrees of diverse organ involvement, primarily affecting minority women [ 1 ]. Among the many clinical presentations, approximately 50% of SLE patients present with renal disease related to lupus nephritis, which has serious comorbidity implications and should be identified and treated early to avoid end-organ failure [ 1 ]. Clinically, a patient often presents with symptoms of fever and arthralgia [ 1 ].…”

“…Among the many clinical presentations, approximately 50% of SLE patients present with renal disease related to lupus nephritis, which has serious comorbidity implications and should be identified and treated early to avoid end-organ failure [ 1 ]. Clinically, a patient often presents with symptoms of fever and arthralgia [ 1 ]. The cutaneous manifestation of the malar rash is especially telling [ 1 ].…”

“…Clinically, a patient often presents with symptoms of fever and arthralgia [ 1 ]. The cutaneous manifestation of the malar rash is especially telling [ 1 ]. Subsequent laboratory tests for serological biomarkers associated with SLE include antigen-specific antinuclear antibody (ANA), with positive results prompting additional testing targeting double-stranded DNA (dsDNA) or ribonucleoprotein (RNP) complexes (Ro/SSA, La/SSB, Smith, and RNP) [ 1 ].…”