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

Research output: Contribution to journalReview article

2 Citations (Scopus)

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.

Original languageEnglish (US)
Article number3
JournalCurrent rheumatology reports
Volume21
Issue number1
DOIs
StatePublished - Jan 1 2019

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Genome-Wide Association Study
Systemic Lupus Erythematosus
Genes
Computational Biology
Autoimmune Diseases
Mutation

All Science Journal Classification (ASJC) codes

  • Rheumatology

Cite this

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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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The Post-GWAS Era : How to Validate the Contribution of Gene Variants in Lupus. / Fike, Adam J.; Elcheva, Irina; Rahman, Ziaur.

In: Current rheumatology reports, Vol. 21, No. 1, 3, 01.01.2019.

Research output: Contribution to journalReview article

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AB - 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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