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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Related Experiment Video

Updated: Apr 27, 2026

Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
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Advances in lupus genetics and epigenetics.

Yun Deng1, Betty P Tsao

  • 1Division of Rheumatology, David Geffen School of Medicine, University of California, Los Angeles, California, USA.

Current Opinion in Rheumatology
|July 11, 2014
PubMed
Summary

Researchers are uncovering genetic and epigenetic factors influencing systemic lupus erythematosus (SLE) susceptibility. Understanding these interactions offers new diagnostic and therapeutic avenues for SLE.

Area of Science:

  • Genetics
  • Immunology
  • Epigenetics

Background:

  • Genome-wide association studies (GWAS) have identified over 50 loci linked to systemic lupus erythematosus (SLE) susceptibility.
  • Epigenetic modifications are increasingly recognized as crucial in mediating gene-environment interactions relevant to SLE pathogenesis.

Purpose of the Study:

  • To review advancements in identifying causative variants for SLE-associated loci.
  • To explore the epigenetic impact on lupus, focusing on genetic-epigenetic interactions that affect SLE susceptibility gene expression.

Main Methods:

  • Review of recent literature on SLE genetic and epigenetic research.
  • Analysis of identified SLE risk loci and their functional implications.
  • Examination of epigenetic modifications influencing gene expression in SLE.

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Main Results:

  • Refinement of a few SLE risk loci to pinpoint likely causative variants.
  • Most identified variants are in noncoding regions, regulating gene expression via transcriptional activity, splicing, mRNA stability, and epigenetic modifications.
  • Key SLE pathogenesis pathways, including type I interferon signaling, are influenced by genetic factors and epigenetic changes.

Conclusions:

  • Novel insights into SLE pathogenesis derived from genetic and epigenetic studies.
  • Potential for improved diagnostic accuracy and identification of new therapeutic targets for SLE management.