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The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis.

Commun Biol. 2019 Nov 15;2:416. eCollection 2019
Melanie A Govender 1 , June Fabian 2 , Errol Gottlich 3 , Cecil Levy 4 , Glenda Moonsamy 5 , Heather Maher 6 , Cheryl A Winkler 7 , Michèle Ramsay 1
Melanie A Govender 1 , June Fabian 2 , Errol Gottlich 3 , Cecil Levy 4 , Glenda Moonsamy 5 , Heather Maher 6 , Cheryl A Winkler 7 , Michèle Ramsay 1
+ et al

[No authors listed]

Author information
  • 1 1Sydney Brenner Institute for Molecular Bioscience and Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • 2 3Division of Nephrology, Department of Internal Medicine, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • 3 4Department of Paediatrics, University of Pretoria, Pretoria, South Africa.
  • 4 5Nelson Mandela Children's Hospital, Division of Nephrology, Department of Paediatrics, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • 5 6Charlotte Maxeke Johannesburg Academic Hospital, Division of Nephrology, Department of Paediatrics, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • 6 2Wits Donald Gordon Medical Centre, University of the Witwatersrand, Johannesburg, South Africa.
  • 7 7Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Leidos Biomedical Research, Inc., Frederick National Laboratory, Frederick, MD USA.

摘要

In black African children with focal segmental glomerulosclerosis (FSGS) there are high rates of steroid resistance. The aim was to determine genetic associations with apolipoprotein L1 (APOL1) renal risk variants and podocin (NPHS2) variants in 30 unrelated black South African children with FSGS. Three APOL1 variants were genotyped and the exons of the NPHS2 gene sequenced in the cases and controls. APOL1 risk alleles show a modest association with steroid sensitive nephrotic syndrome (SSNS) and steroid resistant nephrotic syndrome The NPHS2 V260E variant was present in cases (V/V = 5; V/E = 4; E/E = 11), and was absent in SSNS cases. Haplotype analysis suggests a single mutation origin for V260E and it was associated with a decline in kidney function over a 60-month period (p = 0.026). The V260E variant is a good predictor of autosomal recessive Sduanyu1668 in black South African children and could provide useful information in a clinical setting. © The Author(s) 2019.

KEYWORDS: Genetics, Molecular medicine

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