Article
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Scientific reports - 19 Jul 2018
Tang Dave, Fakiola Michaela, Syn Genevieve, Anderson Denise, Cordell Heather J, Scaman Elizabeth S H, Davis Elizabeth, Miles Simon J, McLeay Toby, Jamieson Sarra E, Lassmann Timo, Blackwell Jenefer M
Abstract excerpt
Chronic renal disease (CRD) associated with cardiovascular disease (CVD) and/or type 2 diabetes (T2D) is a significant problem in Aboriginal Australians. Whole exome sequencing data (N = 72) showed enrichment for ClinVar pathogenic variants in gene sets/pathways linking lipoprotein, lipid and glucose metabolism. The top Ingenuity Pathway Analysis canonical pathways were Farsenoid X Receptor and Retinoid Receptor...
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