Arg206Cys substitution in DNASE1L3 causes a defect in DNASE1L3 protein secretion that confers risk of systemic lupus erythematosus.

doi:10.1136/annrheumdis-2020-218810

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Article

Arg206Cys substitution in DNASE1L3 causes a defect in DNASE1L3 protein secretion that confers risk of systemic lupus erythematosus.

Annals of the rheumatic diseases - 1 Jun 2021

Coke Latanya N, Wen Hongxiu, Comeau Mary, Ghanem Mustafa H, Shih Andrew, Metz Christine N, Li Wentian, Langefeld Carl D, Gregersen Peter K, Simpfendorfer Kim R

Abstract excerpt

OBJECTIVES: To determine if the polymorphism encoding the Arg206Cys substitution in DNASE1L3 explains the association of the DNASE1L3/PXK gene locus with systemic lupus erythematosus (SLE) and to examine the effect of the Arg206Cys sequence change on DNASE1L3 protein function. METHODS: Conditional analysis for rs35677470 was performed on cases and controls with European ancestry from the SLE Immunochip study, and...

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Identifiers

PMID: 33455918
DOI: 10.1136/annrheumdis-2020-218810
PMCID: PMC8142439

Genes

DNASE1L3
PXK

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