A gene network regulated by the transcription factor VGLL3 as a promoter of sex-biased autoimmune diseases

Y Liang, LC Tsoi, X Xing, MA Beamer… - Nature …, 2017 - nature.com
Y Liang, LC Tsoi, X Xing, MA Beamer, WR Swindell, MK Sarkar, CC Berthier, PE Stuart
Nature immunology, 2017nature.com
Abstract Autoimmune diseases affect 7.5% of the US population, and they are among the
leading causes of death and disability. A notable feature of many autoimmune diseases is
their greater prevalence in females than in males, but the underlying mechanisms of this
have remained unclear. Through the use of high-resolution global transcriptome analyses,
we demonstrated a female-biased molecular signature associated with susceptibility to
autoimmune disease and linked this to extensive sex-dependent co-expression networks …
Abstract
Autoimmune diseases affect 7.5% of the US population, and they are among the leading causes of death and disability. A notable feature of many autoimmune diseases is their greater prevalence in females than in males, but the underlying mechanisms of this have remained unclear. Through the use of high-resolution global transcriptome analyses, we demonstrated a female-biased molecular signature associated with susceptibility to autoimmune disease and linked this to extensive sex-dependent co-expression networks. This signature was independent of biological age and sex-hormone regulation and was regulated by the transcription factor VGLL3, which also had a strong female-biased expression. On a genome-wide level, VGLL3-regulated genes had a strong association with multiple autoimmune diseases, including lupus, scleroderma and Sjögren's syndrome, and had a prominent transcriptomic overlap with inflammatory processes in cutaneous lupus. These results identified a VGLL3-regulated network as a previously unknown inflammatory pathway that promotes female-biased autoimmunity. They demonstrate the importance of studying immunological processes in females and males separately and suggest new avenues for therapeutic development.
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