Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.

@article{Debiec2018TransethnicGA,
  title={Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.},
  author={Hanna Debiec and Claire Dossier and Eric Letouz{\'e} and Christopher E. Gillies and Marina Vivarelli and Rosemary K B Putler and Elisabet Ars and {\'E}velyne M. Jacqz-Aigrain and Val{\'e}ry Elie and Manuela Colucci and St{\'e}phanie Debette and Philippe Amouyel and Siham Chafai Elalaoui and Abdelaziz Sefiani and Val{\'e}rie Dubois and Tabassome Simon and Matthias Kretzler and Jose Ballarin and Francesco Emma and Matthew Gordon Sampson and Georges Desch{\^e}nes and Pierre Ronco},
  journal={Journal of the American Society of Nephrology : JASN},
  year={2018},
  volume={29 7},
  pages={
          2000-2013
        }
}
Background Steroid-sensitive nephrotic syndrome (SSNS) is a childhood disease with unclear pathophysiology and genetic architecture. We investigated the genomic basis of SSNS in children recruited in Europe and the biopsy-based North American NEPTUNE cohort.Methods We performed three ancestry-matched, genome-wide association studies (GWAS) in 273 children with NS (Children Cohort Nephrosis and Virus [NEPHROVIR] cohort: 132 European, 56 African, and 85 Maghrebian) followed by independent… 
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
TLDR
The results suggest that a genetically conferred risk of immune dysregulation may be a key component in the pathogenesis of SSNS, and find three loci that achieved genome-wide significance.
Association between HLA alleles and sub-phenotype of childhood steroid-sensitive nephrotic syndrome
TLDR
HLA-I antigens may be involved in steroid dependent or frequent relapse in children with SSNS as mediators of immunoregulation and provide novel genetic markers for SSNSWR and SDNS/FRNS.
GWAS-Based Discoveries in IgA Nephropathy, Membranous Nephropathy, and Steroid Sensitive Nephrotic Syndrome.
TLDR
New insights from the discovery of non-HLA risk loci reinforced the role of innate and adaptive immunity in the pathogenesis of these disorders, and highlighted important susceptibility overlaps between glomerular and other autoimmune and inflammatory conditions.
Genetics of Childhood Steroid Sensitive Nephrotic Syndrome: An Update
TLDR
What is currently known about the genetics of SSNS, the implications of recent findings on the authors' understanding of pathogenesis, and how to utilize these results and findings from future studies to improve the management of children with nephrotic syndrome are examined.
Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome
TLDR
It is suggested that a specific pathogenic link between SSNS development and alteration in CENPI exists, and identification of genetic defects underlying SSNS will help in understanding the precise aetiology of SSNS and improved management of children with NS.
An updated view of the pathogenesis of steroid-sensitive nephrotic syndrome
TLDR
An updated view of SSNS pathogenesis from immunological and genetic aspects, including interactions with infections or allergies, production of circulating factors, and an autoantibody hypothesis is described.
Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood
TLDR
New insights in the genetics of the disease provided by GWAS are highlighted and how these insights fit into the understanding of the pathogenesis of SSNS are identified.
Recent Advances in Genetic Aspects and Treatments for Steroid-Sensitive Nephrotic Syndrome in Children
TLDR
The understanding of pathogenesis and development of new treatments of steroid-sensitive nephrotic syndrome in children made a significant advance over the previous 5 years.
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