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Wednesday, 27 April 2016 13:27

Clinical Research: The role of APOL1 variants in the development of focal segmental glomerulosclerosis in South African children with idiopathic and HIV-related nephrotic syndrome

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image BhimmaName: Rajendra Bhimma

Hospital / Affiliation: University of KwaZulu-Natal

Home Country: South Africa

Host Country: USA

Year: 2014

Status of your program: COMPLETED

 

 

Title of the project:

The role of APOL1 variants in the development of focal segmental glomerulosclerosis in South African children
with idiopathic and HIV-related nephrotic syndrome

Topics:

Chronic Kidney Disease / Glomerular Diseases / Pediatric Nephrology

 

Short description of the project or abstract:

Background: To date the pathogenesis of idiopathic steroid resistant nephrotic syndrome (SRNS), the majority of which are on histology is found to be focal segmental glomerulosclerosis (FSGS) and HIV-related nephropathy (predominantly FSGS) remains elusive. Both these conditions are common glomerular diseases in children in our region. It has long been established that kidney disease is both more frequent and progresses more rapidly to end-stage kidney disease people of African descent. The genetic basis this increased risk of kidney disease with its propensity for progression to ESKD in patients of African ancestry remains elusive. The aim of this study was to determine the role of genetic variants at the APOL1 locus in the development of focal segmental glomerulosclerosis in South African children with idiopathic and HIV-related nephrotic syndrome).
For idiopathic FSGS the odds of carrying two copies of G1 and/or G2 risk alleles were 2.4(95%CI 0.26 to 30, p=0.38) and Inf =0.03(p=0.45) for the HIV associated FSGS in a recessive model. For HIV-associated FSGS, the allele frequencies were 10% for the G1 risk allele and 10% for the G2 deletion and X.XX % carried high risk genotypes compared to X.XX% of the controls. A majority of the HIV-associated FSGS (71.4%) showed absence of the APOL1 G1 and G2 risk alleles whilst forty-seven percent of patients with idiopathic FSGS (HIV-) showed absence of the APOL1 G1 and G2 risk alleles.
These results suggest no association between the APOL1 risk variants in biopsy proven HIV associated FSGS and idiopathic FSGS (HIV-) in a Black South African paediatric population.

 

Learning or Research objectives:

To determine the association of APOL1 genetic risk variants with biopsy proven, idiopathic and HIV-associated kidney disease, this study genotyped 173 Black South African children for the APOL1 risk alleles G1 comprising RS73885319 (S342G), RS60910145 (I384M) and the G2 allele, RS71785313 (2 amino acid deletion) within the KwaZulu-Natal Province, South Afica.

 

Additional Info

  • Year: 2014
  • Status: Completed
  • Partners: ISN only
  • Region: Africa
  • Country: South Africa
  • Topics: CKD, Paediatric nephrology, Glomerular Diseases
Read 7050 times Last modified on Wednesday, 27 April 2016 14:09

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