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10.1038/s41598-018-29279-9 http://scihub22266oqcxt.onion/10.1038/s41598-018-29279-9 C6053446!6053446 !30026549     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\30026549 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Sci+Rep 2018 ; 8 (1 ): 10912 Nephropedia Template TP {{tp|p=30026549 |t=2018. Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians |pdf=|usr=}}{{30026549 }} gab.com Text Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians JO: Sci Rep http://www.kidney.de/pget.php?&tw=1&pmid=30026549 #FOAvip 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 (FXR/RXR; (P?=?1.86?×?10(-7)), Liver X Receptor and Retinoid Receptor (LXR/RXR; P?=?2.88?×?10(-6)), and atherosclerosis signalling (P?=?3.80?×?10(-6)). Top pathways/processes identified using Enrichr included: Reactome 2016 chylomicron-mediated lipid transport (P?=?3.55?×?10(-7)); Wiki 2016 statin (P?=?8.29?×?10(-8)); GO Biological Processes 2017 chylomicron remodelling (P?=?1.92?×?10(-8)). ClinVar arylsulfatase A pseudodeficiency (ARSA-PD) pathogenic variants were common, including the missense variant c.511?G?>?A (p.Asp171Asn; rs74315466; frequency 0.44) only reported in Polynesians. This variant is in cis with known ARSA-PD 3' regulatory c.*96?A?>?G (rs6151429; frequency 0.47) and missense c.1055?A?>?G (p.Asn352Ser; rs2071421; frequency 0.47) variants. These latter two variants are associated with T2D (risk haplotype GG; odds ratio 2.67; 95% CI 2.32-3.08; P?=?2.43?×?10(-4)) in genome-wide association data (N?=?402), but are more strongly associated with quantitative traits (DBP, SBP, ACR, eGFR) for hypertension and renal function in non-diabetic than diabetic subgroups. Traits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of ARSA-PD variants. Twit Text FOAVip Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians ????Sci Rep http://www.kidney.de/pget.php?&tw=1&pmid=30026549 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=30026549 #FOAvip English Wikipedia <ref>{{Cite pmid|30026549 }}</ref> Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians #MMPMID30026549 Tang D ; Fakiola M ; Syn G ; Anderson D ; Cordell HJ ; Scaman ESH ; Davis E ; Miles SJ ; McLeay T ; Jamieson SE ; Lassmann T ; Blackwell JM Sci Rep 2018[Jul]; 8 (1 ): 10912 PMID30026549 show ga 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 (FXR/RXR; (P?=?1.86?×?10(-7)), Liver X Receptor and Retinoid Receptor (LXR/RXR; P?=?2.88?×?10(-6)), and atherosclerosis signalling (P?=?3.80?×?10(-6)). Top pathways/processes identified using Enrichr included: Reactome 2016 chylomicron-mediated lipid transport (P?=?3.55?×?10(-7)); Wiki 2016 statin (P?=?8.29?×?10(-8)); GO Biological Processes 2017 chylomicron remodelling (P?=?1.92?×?10(-8)). ClinVar arylsulfatase A pseudodeficiency (ARSA-PD) pathogenic variants were common, including the missense variant c.511?G?>?A (p.Asp171Asn; rs74315466; frequency 0.44) only reported in Polynesians. This variant is in cis with known ARSA-PD 3' regulatory c.*96?A?>?G (rs6151429; frequency 0.47) and missense c.1055?A?>?G (p.Asn352Ser; rs2071421; frequency 0.47) variants. These latter two variants are associated with T2D (risk haplotype GG; odds ratio 2.67; 95% CI 2.32-3.08; P?=?2.43?×?10(-4)) in genome-wide association data (N?=?402), but are more strongly associated with quantitative traits (DBP, SBP, ACR, eGFR) for hypertension and renal function in non-diabetic than diabetic subgroups. Traits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of ARSA-PD variants. |Australia/ethnology [MESH] |Case-Control Studies [MESH] |Cerebroside-Sulfatase/deficiency/*genetics [MESH] |Exome Sequencing [MESH] |Female [MESH] |Gene Regulatory Networks [MESH] |Genetic Predisposition to Disease [MESH] |Genome-Wide Association Study [MESH] |Humans [MESH] |Hypertension/*genetics [MESH] |Male [MESH] |Odds Ratio [MESH] |Polymorphism, Single Nucleotide [MESH]Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic (epmc).pdf DeepDyve Pubget Overpricing