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The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus

  • Systemic Lupus Erythematosus (G Tsokos, Section Editor)
  • Published:
Current Rheumatology Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

Systemic lupus erythematosus (SLE) is a complex autoimmune disease with strong genetic associations. Here, we provide an update on recent advancements in validating SLE candidate genes and risk variants identified in genome-wide association studies (GWAS).

Recent Findings

A pairing of computational biology with new and emerging techniques has significantly increased our understanding of SLE associated variants. Specifically, generation of mutations within mice and examination of patient samples has been the dominant mechanisms for variant validation.

Summary

While progress has been made in validating some genes, the number of associated genes is growing with minimal exploration of the effects of individual variants on SLE. This indicates that further examination of SLE risk variants in a cell-type-specific manner is required for better understanding of their contributions to SLE disease mechanisms.

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Funding

Rahman laboratory research has been supported by the National Institutes of Health grants (RO1A1091670 and R21 AI128111), Department of Defense grants (PR130012 and LR170078), and Lupus Research Alliance Grant (LRA548931) to Z.S.M.R.

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Authors and Affiliations

  1. Department of Microbiology and Immunology, Pennsylvania State University College of Medicine, H107, 500 University Drive, Hershey, PA, 17033-0850, USA

    Adam J. Fike & Ziaur S. M. Rahman

  2. Hematology and Oncology, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA, 17033-0850, USA

    Irina Elcheva

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  1. Adam J. Fike
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Correspondence to Ziaur S. M. Rahman.

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This article is part of the Topical Collection on Systemic Lupus Erythematosus

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Fike, A.J., Elcheva, I. & Rahman, Z.S.M. The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus. Curr Rheumatol Rep 21, 3 (2019). https://doi.org/10.1007/s11926-019-0801-5

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