Genetic risk variants for childhood nephrotic syndrome and corticosteroid response

• DOI: 10.3389/fped.2023.1248733
• Publication Date: 2023-10-06T09:57:38Z
• Authors: Rachel K. Cason; Eileen Chambers; Tiffany Tu; Megan Chryst-Stangl; Kinsie Huggins; Brandon M. Lane; Alejandro Ochoa; Annette M. Jackson; Rasheed A. Gbadeg...
• Keywords: Genome-wide Association Study

The etiology of most cases nephrotic syndrome (NS) remains unknown, therefore patients are phenotypically categorized based on response to corticosteroid therapy as steroid sensitive NS (SSNS), or resistant (SRNS). Genetic risk factors have been identified for SSNS from unbiased genome-wide association studies (GWAS), however it is unclear if these loci disease in other forms such SRNS. Additionally, unknown associated with therapy. Thus, we investigated the between and a large, multi-race cohort children along entire spectrum childhood-onset NS.We enrolled 1,000 comprised Genotyping was done using TaqMan Direct Sanger Sequencing 9 previously reported childhood loci. We compared allele frequencies (AF) variant burden vs. controls SRNS SSNS.All were healthy (p = 3.5 × 10-3-<2.2 10-16). Variant greater than 7 (OR 7.4, 95% CI 4.6-12.0, p 8.2 10-16).Our study showed that genetic pattern response, may help predict outcome, set stage individualized treatment NS.