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An ETS2 Enhancer Variant May Modulate Gene Expression and Contribute to Defining a Genetic Risk Profile for SLE

Andrea Latini1, Giada De Benedittis2, Chiara Morgante2

  • 1UniCamillus, Saint Camillus International University of Health Sciences, 00131 Rome, Italy.

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|December 30, 2025
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Summary
This summary is machine-generated.

A genetic variant near the ETS2 gene increases systemic lupus erythematosus (SLE) risk by enhancing gene expression. This finding links non-coding DNA variations to autoimmune disease development and risk prediction.

Keywords:
ETS2genetic risk scoresingle-nucleotide variantsystemic lupus erythematosus

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Area of Science:

  • Genetics
  • Immunology
  • Autoimmune Diseases

Background:

  • Systemic lupus erythematosus (SLE) is a complex autoimmune disease with significant genetic underpinnings.
  • Genome-wide association studies (GWASs) have identified numerous non-coding genetic variants associated with SLE, but their functional significance is often unclear.
  • The single-nucleotide variant (SNV) rs2836882, located near the ETS2 proto-oncogene, has been proposed to influence immune regulation, but its role in SLE susceptibility requires elucidation.

Purpose of the Study:

  • To investigate the association of the SNV rs2836882 with SLE susceptibility in an Italian cohort.
  • To determine the functional impact of rs2836882 on ETS2 gene expression.
  • To assess the contribution of rs2836882 to the overall genetic burden of SLE.

Main Methods:

  • Genotyping of rs2836882 in 246 Italian SLE patients and 216 healthy controls using TaqMan assays.
  • Calculation of a weighted genetic risk score (wGRS) incorporating rs2836882 and other known SLE variants.
  • Quantification of ETS2 mRNA expression in peripheral blood mononuclear cells (PBMCs) via RT-qPCR and in silico functional analyses.

Main Results:

  • The rs2836882 risk allele was significantly associated with increased SLE susceptibility (OR = 1.54, p = 0.02).
  • SLE patients exhibited a significantly higher wGRS compared to controls (p < 0.00001), indicating an additive genetic risk.
  • In silico analysis revealed rs2836882 is located in an active enhancer region and acts as an expression quantitative trait locus (eQTL) for ETS2. Carriers of the risk allele showed significantly higher ETS2 expression (p = 0.002).

Conclusions:

  • rs2836882 is a functional regulatory variant that increases ETS2 transcription and contributes to SLE susceptibility.
  • This study establishes a mechanistic link between a non-coding GWAS locus and autoimmune disease risk.
  • Findings support the importance of functional non-coding variants in autoimmune pathogenesis and their potential integration into genetic risk models for SLE.