Genetic variants found in regions that are involved in regulation of the immune response may be responsible for a type of kidney disease among kids, a new study has shown.
Nephrotic Syndrome (NS), the most common glomerular disorder of childhood, causes failure of the kidney’s filtration barrier to retain protein in the bloodstream. Massive amounts of protein are then lost in the urine, including important clotting factors and antibodies to fight infection.
The results showed that genetic variants in three regions within the human leukocyte antigen (HLA) region — associated with regulation of immune system — of the genome were associated with pediatric NS.
Further, two of these risk variants were associated with decreased expression of specific HLA genes within the kidney’s filtration barrier in patients with NS.
“It is remarkable that all risk variants that we have identified are associated with other immune-mediated diseases, which strongly support underlying immune dysregulation in NS,” said study lead, Pierre Ronco from INSERM (Institut national de la santé et de la recherche médicale) in Paris, France.
The study, published in the Journal of the American Society of Nephrology, analysed the genomes of nearly 400 children with the condition and also followed an additional 100 children.
“These robust discoveries suggest that as we continue to increase our sample sizes for genome-wide association studies in pediatric forms of NS, we should continue to identify additional risk variants,” Ronco said. IANS
