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Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression.

Xiaoming Lu1, Erin E Zoller2, Matthew T Weirauch3

  • 1Immunology Graduate Program, College of Medicine, University of Cincinnati, Cincinnati, OH 45229, USA; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

American Journal of Human Genetics
|April 14, 2015
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Summary

Genetic variants near the ETS1 gene are linked to systemic lupus erythematosus (SLE). A specific variant, rs6590330, increases SLE risk by altering transcription factor binding and reducing ETS1 gene expression.

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Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Genetic variants near the ETS1 gene on chromosome 11q23.3 are associated with systemic lupus erythematosus (SLE) in Asian populations.
  • ETS1 plays a crucial role in immune cell function and differentiation, with its deficiency leading to SLE-like autoimmunity in mice.

Purpose of the Study:

  • To fine-map genetic variants associated with SLE in the vicinity of the ETS1 gene.
  • To identify causal variants and elucidate their functional mechanisms in SLE pathogenesis.

Main Methods:

  • Fine-mapping analysis of 14,551 subjects across multi-ancestral cohorts using genotyped and imputed variants.
  • Construction of genetic models using frequentist and Bayesian association methods.
  • Functional assessment of variants focusing on transcription factor binding, miRNA binding, and chromatin state, including mass spectrometry, immunoblot analysis, and ChIP assays.

Main Results:

  • Identified 16 statistically likely causal variants near ETS1.
  • The variant rs6590330 showed differential binding in B cells and increased binding of the active form of signal transducer and activator of transcription 1 (STAT1) to DNA near the risk allele.
  • Expression quantitative trait loci analysis indicated that the rs6590330 risk allele is associated with decreased ETS1 expression in Han Chinese individuals.

Conclusions:

  • The risk allele of rs6590330 is associated with decreased ETS1 expression.
  • This variant increases SLE risk by enhancing the binding of phosphorylated STAT1 (pSTAT1) to DNA, potentially disrupting normal immune regulation.