Lupus: Open Access
Open Access

Audrey A Margery-Muir

Publications

• Research Article
  Genetic Variation at the DNASE I Locus in an Australian Cohort of SLE Patients
  Author(s): Audrey A Margery-Muir, John D Wetherall and David M Groth Audrey A Margery-Muir, John D Wetherall and David M Groth
  
  Objective: DNASE I serum concentrations and activity, as well as sequence mutations have been implicated in the pathology of systemic lupus erythematosus (SLE). This study was undertaken to assess the serum DNASE I concentrations and assess the DNASE I sequence variation in a cohort of SLE patients and controls. Methods: DNASE I serum concentrations were assayed in 56 SLE patients and 33 age and sex matched controls. All SLE patients and controls were genotyped for exomic alleles at the DNASE I locus and for the variable number tandem repeat alleles present in intron 4 (VNTR - HumDN1). Results: Skewed DNASE I protein concentration distributions were observed with the mean value for SLE patients being 44.2 U/mL compared to 56.4 U/mL in controls (NS). No sample tested negative for DNASE I protein. Only two of the pre.. View More»
  

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