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Study uncovers insights on nephrotic syndrome
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Research that will appear in the Journal of the American Society of Nephrology provided insights on the genetics underlying nephrotic syndrome in children and could lead to new diagnostic tests and treatments.
“Through trans-ethnic [genome-wide association studies] GWAS and integrative analyses of children with steroid-sensitive nephrotic syndrome [SSNS] across countries and continents, we demonstrated that informative genomic discoveries in rare, pediatric kidney diseases can be accomplished using creative, robust methodologies,” Matthew G. Sampson, MD, MSCE, a co-author of the study from the department of pediatrics and communicable diseases at the University of Michigan School of Medicine, told Healio Nephrology. “In doing so, we found that these nephrotic syndrome-risk alleles were associated with increased odds of achieving complete remission and a younger age of onset, independent of the child’s histologic diagnosis. This suggests that a genetic classification of a child’s NS may be more helpful in predicting outcomes than a descriptive, histologic diagnosis.”
The researchers, led by Pierre Ronco, MD, PhD, from the Sorbonne University, analyzed the genomes of about 400 children with steroid-sensitive nephrotic syndrome (SSNS) in France, Italy and Spain and examined those of almost 100 children in North America.
According to a press release, the team discovered genetic variants in three regions within the human leukocyte antigen (HLA) region of the genome were associated with pediatric NS in Europe. Analyses of North American children with NS of diverse microscopic forms revealed these variants were both associated with a significantly increased likelihood of experiencing complete remission. Across both continents, children with NS and these risk variants were significantly younger at the age of disease onset. Two of these risk variants were associated with decreased expression of specific HLA genes within the kidney’s filtration barrier in patients with NS.
“[These] robust discoveries found in a modest number of children with SSNS suggest that as we continue to increase our sample sizes for GWAS in pediatric forms of NS, we should continue to identify additional risk alleles,” Sampson said. “This motivates us to continue efforts to collaborate with investigators around the world for larger GWAS of this condition.” – by Jake Scott
Reference:
www.newswise.com/articles/view/695811/?sc=dwhr&xy=10007438
Disclosures: The authors report no relevant financial disclosures.
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Debiec H, et al. J Am Soc Nephrol. 2018;doi:10.1681/ASN.201711185
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